diseaseId	diseaseName	diseaseClass	diseaseClassName
mesh:D014355	Chagas Disease	C03	Parasitic Diseases
omim:606367	Interleukin-2 receptor, alpha chain, deficiency of	C20	Immune System Diseases
mesh:D013771	Tetralogy of Fallot	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606369	Epileptic encephalopathy, Lennox-Gastaut type	C10	Nervous system Diseases
mesh:D017088	AIDS-Related Opportunistic Infections	C01; C02; C03; C20	Bacterial Infections and Mycoses; Virus Diseases; Parasitic Diseases; Immune System Diseases
omim:211900	Tumoral calcinosis, hyperphosphatemic	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D011504	Protein-Losing Enteropathies	C06	Digestive System Diseases
mesh:D011507	Proteinuria	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:601884	Bone mineral density variability 1	C05	Musculoskeletal Diseases
omim:601885	Cataract, zonular pulverulent-3	C11	Eye Diseases
omim:188890	Nicotine addiction, protection from	C21; F03	Disorders of Environmental Origin; Mental Disorders
omim:601887	Malignant hyperthermia susceptibility 5	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:610069	Polyposis syndrome, hereditary mixed, 2	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:302950	Chondrodysplasia punctata, X-linked recessive	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D017086	beta-Thalassemia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:264600	Pseudovaginal perineoscrotal hypospadias	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D017085	alpha-Thalassemia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603218	Huntington disease-like 1	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D017098	IgA Deficiency	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D005310	Fetal Alcohol Syndrome	C13; C16; C21	Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disorders of Environmental Origin
mesh:D005313	Fetal Death	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:611182	Congenital disorder of glycosylation, type IIh	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:253800	Muscular dystrophy, Fukuyama congenital	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609942	Noonan syndrome 3	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D015812	Glaucoma, Angle-Closure	C11	Eye Diseases
mesh:D005315	Fetal Diseases	C13; C16	Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D028921	Biotinidase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005317	Fetal Growth Retardation	C13; C16; C23	Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D005316	Fetal Distress	C23	Pathological Conditions, Signs and Symptoms
mesh:D028922	Holocarboxylase Synthetase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:176450	Currarino syndrome	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
omim:601894	Glomerulopathy with fibronectin deposits 2	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D017091	Colitis, Ischemic	C06; C14	Digestive System Diseases; Cardiovascular Diseases
mesh:D017093	Liver Failure	C06	Digestive System Diseases
mesh:D017092	Porphyria, Erythropoietic	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D017095	Kidney Failure	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D017094	Porphyrias, Hepatic	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:611185	Restless legs syndrome, susceptibility to, 6	C10; F03	Nervous system Diseases; Mental Disorders
omim:606353	Primary lateral sclerosis, juvenile	C10	Nervous system Diseases
mesh:D017096	Prion Diseases	C10	Nervous system Diseases
omim:606346	Deafness, autosomal dominant 22	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:609939	Systemic lupus erythematous, association with susceptibility to, 6	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D014376	Tuberculosis	C01	Bacterial Infections and Mycoses
mesh:D003966	Camurati-Engelmann Syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003967	Diarrhea	C23	Pathological Conditions, Signs and Symptoms
mesh:D052919	Refsum Disease, Infantile	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015826	Langer-Giedion Syndrome	C05	Musculoskeletal Diseases
mesh:D008413	Mastitis	C13; C17	Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
mesh:D008415	Mastocytosis	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:601098	Charcot-Marie-Tooth disease, type 1C	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610042	Cortical dysplasia-focal epilepsy syndrome	C10	Nervous system Diseases
omim:610048	Corneal dystrophy, congenital stromal	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611162	Malaria, resistance to	C03	Parasitic Diseases
mesh:D015831	Osteochondroma	C04; C05	Neoplasms; Musculoskeletal Diseases
omim:609924	Aminoacylase 1 deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:228300	Fertile eunuch syndrome	C19	Endocrine System Diseases
omim:222700	Lysinuric protein intolerance	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609923	Retinitis pigmentosa-31	C11	Eye Diseases
omim:608471	Corneal dystrophy, lattice type IIIA	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:176430	Premature chromatid separation trait	NA	Unclassified
mesh:D017074	Common Variable Immunodeficiency	C20	Immune System Diseases
omim:608470	Corneal dystrophy, Reis-Bucklers type	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003969	Vipoma	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
omim:303350	CRASH syndrome	C05; C10; C16; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D015845	Tonic Pupil	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011553	Pseudomyxoma Peritonei	C04	Neoplasms
omim:115310	Paraganglioma, familial chromaffin, 4	C04	Neoplasms
mesh:D011556	Pseudopseudohypoparathyroidism	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606324	Parkinson disease 7, autosomal recessive early-onset	C10	Nervous system Diseases
mesh:D017044	Polycystic Kidney, Autosomal Recessive	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:150800	Multiple cutaneous and uterine leiomyomata	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:610024	Retinal cone dystrophy 3	C11	Eye Diseases
omim:610021	Hyperinsulinemic hypoglycemia, familial, 7	C18	Nutritional and Metabolic Diseases
omim:610896	Branchiootorenal syndrome 2	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014328	Trophoblastic Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
omim:604906	Schizophrenia, susceptibility to	F03	Mental Disorders
omim:204650	Amelogenesis imperfecta, type IC	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:248360	Malonyl-CoA decarboxylase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D011542	Pseudarthrosis	C21	Disorders of Environmental Origin
mesh:D003141	Communicable Diseases	C01	Bacterial Infections and Mycoses
mesh:D011546	Pseudohypoaldosteronism	C12; C13; C16; C18; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:604901	Cirrhosis, North American Indian childhood type	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011547	Pseudohypoparathyroidism	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000690	Amyotrophic Lateral Sclerosis	C10	Nervous system Diseases
omim:222765	Chondrodysplasia punctata, rhizomelic, type 2	C05; C16; C17; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D011545	Pseudohermaphroditism	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D003147	Communication Disorders	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D000699	Pain Insensitivity, Congenital	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:278300	Xanthinuria, type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D029481	Bronchitis, Chronic	C08	Respiratory Tract Diseases
omim:610015	Glutamine deficiency, congenital	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:176410	Leydig cell adenoma, somatic, with precocious puberty	C16; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:610017	Multiple synostoses syndrome 2	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608456	Adenomas, multiple colorectal	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015863	Iridocyclitis	C11	Eye Diseases
mesh:D013796	Thanatophoric Dysplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609975	Hyperinsulinemic hypoglycemia, familial, 4	C18	Nutritional and Metabolic Diseases
omim:608446	Myocardial infarction, susceptibility to	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D014339	Truncus Arteriosus, Persistent	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:248370	Mandibuloacral dysplasia	C05; C16; C17; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D006402	Hematologic Diseases	C15	Hemic and Lymphatic Diseases
mesh:D015861	Retinal Neovascularization	C11; C23	Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000686	Amyloidosis	C18	Nutritional and Metabolic Diseases
omim:610003	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:603233	Pseudohypoparathyroidism Ib	C12; C13; C16; C18; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:608443	Mental retardation, autosomal recessive 3	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610006	2-methylbutyrylglycinuria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610878	Vesicoureteral reflux 2	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:115300	Hypercarotenemia and vitamin A deficiency, autosomal dominant	C18	Nutritional and Metabolic Diseases
mesh:D003161	Compartment Syndromes	C05; C14	Musculoskeletal Diseases; Cardiovascular Diseases
omim:609968	Hyperinsulinemic hypoglycemia, familial, 5	C18	Nutritional and Metabolic Diseases
mesh:D013789	Thalassemia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017036	Epilepsia Partialis Continua	C10	Nervous system Diseases
mesh:D022124	Hyperammonemia	C23	Pathological Conditions, Signs and Symptoms
mesh:D017034	Epilepsy, Frontal Lobe	C10	Nervous system Diseases
omim:226200	Enterokinase deficiency	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D052120	Glycogen Storage Disease Type IIb	C10; C14; C16; C18	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:241410	Hypoparathyroidism-retardation-dysmorphism syndrome	C19	Endocrine System Diseases
omim:248310	Plasmodium falciparum blood infection level	C03; C20	Parasitic Diseases; Immune System Diseases
omim:610854	Osteogenesis imperfecta, type IIB	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:610852	Ciliary dyskinesia, primary, 6	C08; C09; C14; C16	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:268150	Anemia, hemolytic, Rh-null, regulator type	C15	Hemic and Lymphatic Diseases
omim:605637	Inclusion body myopathy-3	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D001796	Blood Protein Disorders	C15	Hemic and Lymphatic Diseases
mesh:D050723	Fractures, Bone	C21	Disorders of Environmental Origin
omim:181030	Adenomas, salivary gland pleomorphic	C04; C07	Neoplasms; Stomatognathic Diseases
omim:217300	Cornea plana congenita, recessive	C11	Eye Diseases
omim:142945	Holoprosencephaly-3	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:142946	Holoprosencephaly-4	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001791	Blood Platelet Disorders	C15	Hemic and Lymphatic Diseases
mesh:D008471	Meconium Aspiration Syndrome	C08; C13; C16	Respiratory Tract Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:143200	Wagner syndrome 1	C08; C11; C14	Respiratory Tract Diseases; Eye Diseases; Cardiovascular Diseases
omim:611105	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	C02; C10	Virus Diseases; Nervous system Diseases
omim:153870	Macular dystrophy, concentric annular	C11	Eye Diseases
mesh:D054179	Angioedema, Hereditary	C14; C16; C17; C20	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
omim:259770	Osteoporosis-pseudoglioma syndrome	C05; C10; C11; C16; C17; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:259775	Raine syndrome	C05; C07; C10; C11; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002056	Burns	C21	Disorders of Environmental Origin
omim:608415	Bradyopsia	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002054	Burning Mouth Syndrome	C07	Stomatognathic Diseases
mesh:D002051	Burkitt Lymphoma	C02; C04; C15; C20	Virus Diseases; Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:610832	Fanconi anemia, complementation group N	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D010438	Peptic Ulcer Hemorrhage	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D010437	Peptic Ulcer	C06	Digestive System Diseases
mesh:D054975	Pallister-Hall Syndrome	C04; C05; C10; C16	Neoplasms; Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054973	Perivascular Epithelioid Cell Neoplasms	C04	Neoplasms
mesh:D054972	Postural Orthostatic Tachycardia Syndrome	C10	Nervous system Diseases
mesh:D054971	Orthostatic Intolerance	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D052159	Frasier Syndrome	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054969	Primary Dysautonomias	C10	Nervous system Diseases
omim:135150	Birt-Hogg-Dube syndrome	C04; C08; C12; C13; C17	Neoplasms; Respiratory Tract Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
mesh:D001778	Blood Coagulation Disorders	C15	Hemic and Lymphatic Diseases
mesh:D018636	Hypoplastic Left Heart Syndrome	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:140700	Heinz body anemia	C15	Hemic and Lymphatic Diseases
omim:610829	Holoprosencephaly-9	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610828	Holoprosencephaly-7	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016403	Lymphoma, Large B-Cell, Diffuse	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D018630	Vitreoretinopathy, Proliferative	C11	Eye Diseases
omim:608404	Platelet glycoprotein IV deficiency	C15	Hemic and Lymphatic Diseases
omim:610842	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:304400	Deafness, X-linked 2	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009958	Orofaciodigital Syndromes	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009959	Oropharyngeal Neoplasms	C04; C07; C09	Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
mesh:D029461	Sialic Acid Storage Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001768	Blister	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:107250	Anterior segment mesenchymal dysgenesis	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:206800	Anonychia congenita	C23	Pathological Conditions, Signs and Symptoms
mesh:D001766	Blindness	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:214800	CHARGE syndrome	C05; C08; C09; C10; C11; C14; C16; C19; C23; F03	Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D001764	Blepharospasm	C11	Eye Diseases
mesh:D001762	Blepharitis	C11	Eye Diseases
omim:607864	Caudal duplication anomaly	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605670	Retinal degeneration, late-onset, autosomal dominant	C11	Eye Diseases
mesh:D054990	Idiopathic Pulmonary Fibrosis	C08	Respiratory Tract Diseases
mesh:D052177	Kidney Diseases, Cystic	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:600791	Enlarged vestibular aqueduct	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600794	Neuropathy, distal hereditary motor, type V	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:600795	Dementia, familial, nonspecific	C10; F03	Nervous system Diseases; Mental Disorders
omim:142900	Holt-Oram syndrome	C05; C14; C16	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004213	Dissociative Disorders	F03	Mental Disorders
mesh:D054989	Nephrogenic Fibrosing Dermopathy	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D054988	Idiopathic Interstitial Pneumonias	C08	Respiratory Tract Diseases
mesh:D004211	Disseminated Intravascular Coagulation	C15	Hemic and Lymphatic Diseases
omim:605676	Dilated cardiomyopathy with woolly hair and keratoderma	C14; C16; C17	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:606392	MODY, type IV	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:301040	Alpha-thalassemia/mental retardation syndrome	C10; C15; C16; C23; F03	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:174200	Polydactyly, postaxial, types A1 and B	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D045169	Severe Acute Respiratory Syndrome	C02; C08	Virus Diseases; Respiratory Tract Diseases
mesh:D008444	Maxillary Sinus Neoplasms	C04; C08; C09	Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
omim:602111	Spondyloepimetaphyseal dysplasia, Missouri type	C05	Musculoskeletal Diseases
mesh:D010409	Penile Diseases	C12	Male Urogenital Diseases
mesh:D010412	Penile Neoplasms	C04; C12	Neoplasms; Male Urogenital Diseases
omim:117210	Spinocerebellar ataxia 4, pure Japanese type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010411	Penile Induration	C12; C17	Male Urogenital Diseases; Skin and Connective Tissue Diseases
omim:610092	Microphthalmia, isolated, with coloboma 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610093	Microphthalmia, isolated 2	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610090	Pyridoxamine 5'-phosphate oxidase deficiency	C10	Nervous system Diseases
omim:270550	Spastic ataxia, Charlevoix-Saguenay type	C05; C10; C23	Musculoskeletal Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016410	Lymphoma, T-Cell, Cutaneous	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D016411	Lymphoma, T-Cell, Peripheral	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D008010	Lichen Planus	C17	Skin and Connective Tissue Diseases
omim:173100	Growth hormone deficiency, isolated, type II	C05; C10; C19	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases
omim:611131	Retinitis pigmentosa-37	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:268130	Revesz syndrome	C04; C07; C10; C11; C17; C23; F03	Neoplasms; Stomatognathic Diseases; Nervous system Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:611136	Epilepsy, childhood absence, 4	C10	Nervous system Diseases
omim:611134	Meckel syndrome type 4	C05; C06; C10; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008457	Measles	C02	Virus Diseases
omim:166780	Otofaciocervical syndrome	C05; C09; C10; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:305390	Exudative vitreoretinopathy, X-linked	C11	Eye Diseases
omim:312600	Retinitis pigmentosa-2	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054198	Precursor Cell Lymphoblastic Leukemia-Lymphoma	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:611126	ACAD9 deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009999	Ossification, Heterotopic	C23	Pathological Conditions, Signs and Symptoms
omim:301830	Spinal muscular atrophy, X-linked 2, infantile	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:301835	Arts syndrome	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004204	Dislocations	C21	Disorders of Environmental Origin
mesh:D029424	Pulmonary Disease, Chronic Obstructive	C08	Respiratory Tract Diseases
omim:607801	Muscular dystrophy, limb-girdle, type IC	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002820	Hydatidiform Mole, Invasive	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D002822	Choriocarcinoma	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
omim:132700	Cylindromatosis, familial	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D002821	Chorioamnionitis	C13; C16	Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:201710	Lipoid adrenal hyperplasia	C12; C13; C16; C18; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:111750	Blood group, Scianna system	NA	Unclassified
omim:600882	Charcot-Marie-Tooth disease, type 2B	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012626	Sebaceous Gland Neoplasms	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:600881	Cataract, congenital zonular, with sutural opacities	C11	Eye Diseases
mesh:D002817	Chordoma	C04	Neoplasms
omim:600886	Hyperferritinemia-cataract syndrome	C11; C16; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002819	Chorea	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008039	Linitis Plastica	C04	Neoplasms
omim:607812	Craniolenticulosutural dysplasia	C05; C11; C16	Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002813	Chondrosarcoma	C04	Neoplasms
mesh:D002812	Chondroma	C04	Neoplasms
omim:274270	5-fluorouracil toxicity	C18	Nutritional and Metabolic Diseases
mesh:D012640	Seizures	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002100	Cachexia	C23	Pathological Conditions, Signs and Symptoms
mesh:D002805	Chondrocalcinosis	C05	Musculoskeletal Diseases
mesh:D002806	Chondrodysplasia Punctata	C05	Musculoskeletal Diseases
mesh:D002804	Chondroblastoma	C04	Neoplasms
omim:612291	Joubert syndrome	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:158810	Bethlem myopathy	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612290	Microtia, hearing impairment, and cleft palate	C05; C07; C09; C10; C16; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D008067	Lipoma	C04	Neoplasms
mesh:D008068	Lipomatosis	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D002114	Calcinosis	C18	Nutritional and Metabolic Diseases
omim:612292	Birk-Barel mental retardation dysmorphism syndrome	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:300200	Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism	C19; C20	Endocrine System Diseases; Immune System Diseases
mesh:D029503	Anemia, Diamond-Blackfan	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:259710	Osteopetrosis, autosomal recessive 2	C05	Musculoskeletal Diseases
omim:268100	Enhanced S-cone syndrome	C11	Eye Diseases
omim:245150	Keutel syndrome	C05; C09; C10; C14; C16; C17; C18; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006390	Hemangioendothelioma	C04	Neoplasms
mesh:D008060	Lipodystrophy	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D006392	Hemangioma, Cavernous	C04; C14; C15	Neoplasms; Cardiovascular Diseases; Hemic and Lymphatic Diseases
mesh:D002836	Hemophilia B	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006391	Hemangioma	C04	Neoplasms
mesh:D008065	Lipoid Proteinosis of Urbach and Wiethe	C08; C16; C17	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006394	Hemangiosarcoma	C04	Neoplasms
mesh:D008064	Lipidoses	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008059	Mucopolysaccharidosis I	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:300215	Hydranencephaly with abnormal genitalia	C10; C12; C13; C16	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300210	Mental retardation, X-linked 58	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:259700	Osteopetrosis, recessive 1	C05	Musculoskeletal Diseases
mesh:D012618	Sea-Blue Histiocyte Syndrome	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:224050	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion	C10	Nervous system Diseases
omim:611960	Asthma-related traits, susceptibility to, 7	C08; C20	Respiratory Tract Diseases; Immune System Diseases
omim:300209	Simpson-Golabi-Behmel syndrome, type 2	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D008052	Lipid Metabolism, Inborn Errors	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020417	Nystagmus, Congenital	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:202110	17,20-lyase deficiency, isolated	C16; C18; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:120100	Cold-induced autoinflammatory syndrome, familial	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
omim:300220	Mental retardation, X-linked syndromic 10	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:128230	Dystonia, dopa-responsive	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001745	Urinary Bladder Diseases	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:607847	Neutropenia, nonimmune chronic idiopathic, of adults	C15	Hemic and Lymphatic Diseases
omim:128235	Dystonia-12	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:607039	Deafness, autosomal recessive 22	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018746	Systemic Inflammatory Response Syndrome	C23	Pathological Conditions, Signs and Symptoms
omim:607841	Deafness, autosomal dominant nonsyndromic sensorineural	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:259730	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	C05; C12; C13; C16; C18	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D055653	Muir-Torre Syndrome	C04; C16; C17	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:106210	Aniridia	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008088	Listeria Infections	C01	Bacterial Infections and Mycoses
omim:177820	von Willebrand disease, platelet-type	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008080	Liposarcoma	C04	Neoplasms
omim:308100	Ichthyosis, X-linked	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D012600	Scoliosis	C05	Musculoskeletal Diseases
omim:273750	3-M syndrome	C05; C08; C13; C16; C19; C23	Musculoskeletal Diseases; Respiratory Tract Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:612281	Ichthyosis, congenital, autosomal recessive	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D016388	Tooth Loss	C07	Stomatognathic Diseases
omim:612284	Meckel syndrome, type 6	C05; C06; C10; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607855	Muscular dystrophy, congenital merosin-deficient	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001752	Blast Crisis	C04; C15; C23	Neoplasms; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001750	Urinary Bladder, Neurogenic	C10; C12; C13; C23	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:607850	Osteoarthritis susceptibility 3	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:259720	Osteopetrosis, autosomal recessive 5	C05	Musculoskeletal Diseases
mesh:D001749	Urinary Bladder Neoplasms	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	C05; C12; C13	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:612285	Joubert syndrome 9	C06; C08; C09; C11; C12; C13; C16	Digestive System Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008072	Hyperlipoproteinemia Type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	C05; C12; C13	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:300243	Mental retardation, X-linked syndromic, Christianson type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300240	Hoyeraal-Hreidarsson syndrome	C13; C15; C16; C23	Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:124900	Deafness, autosomal dominant 1	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007409	Intestinal Atresia	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607822	Alzheimer disease, type 3	C10; F03	Nervous system Diseases; Mental Disorders
omim:607821	Deafness, autosomal recessive 37	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004165	Diphtheria	C01	Bacterial Infections and Mycoses
omim:607823	Hypotrichosis-lymphedema-telangiectasia syndrome	C15; C17	Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases
omim:612251	Systemic lupus erythematosus, susceptibility to, 10	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D016399	Lymphoma, T-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D001714	Bipolar Disorder	F03	Mental Disorders
omim:254450	Myelofibrosis, idiopathic	C15; C23	Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
omim:612253	Systemic lupus erythematous, association with susceptibility to, 11	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D016393	Lymphoma, B-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D055673	Acrocallosal Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:311150	Jensen syndrome	C10; C11; F03	Nervous system Diseases; Eye Diseases; Mental Disorders
mesh:D007416	Intestinal Perforation	C06	Digestive System Diseases
mesh:D010485	Periapical Periodontitis	C07	Stomatognathic Diseases
mesh:D007417	Intestinal Polyps	C23	Pathological Conditions, Signs and Symptoms
mesh:D007418	Intestinal Pseudo-Obstruction	C06	Digestive System Diseases
mesh:D010484	Periapical Granuloma	C07	Stomatognathic Diseases
omim:607832	Glomerulosclerosis, focal segmental, 3	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:607831	Charcot-Marie-Tooth disease, axonal, type 2K	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007410	Intestinal Diseases	C06	Digestive System Diseases
omim:607836	Autoimmune disease, susceptibility to, 1	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
omim:612260	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	C01	Bacterial Infections and Mycoses
omim:147510	Insulin-related dna polymorphism; irdn	NA	Unclassified
omim:612261	Crohn disease, ileal, protection against	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007414	Intestinal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D038061	Lower Extremity Deformities, Congenital	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612267	Skin/hair/eye pigmentation 10, blond/brown hair	C17	Skin and Connective Tissue Diseases
omim:600858	Cardiomyopathy, hypertrophic 6, with WPW	C14	Cardiovascular Diseases
omim:612269	Epilepsy, childhood absence, 5	C10	Nervous system Diseases
omim:155755	Melanoma and neural system tumor syndrome	C04	Neoplasms
omim:600852	Retinitis pigmentosa-17	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:172870	Pigmented paravenous chorioretinal atrophy	C11	Eye Diseases
omim:600850	Schizophrenia, susceptibility to, 4	F03	Mental Disorders
omim:104500	Amelogenesis imperfecta, type IB	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:105120	Amyloidosis, Finnish type	C10; C18	Nervous system Diseases; Nutritional and Metabolic Diseases
omim:600802	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
omim:612237	Chondrosarcoma, extraskeletal myxoid	C04	Neoplasms
mesh:D005271	Femur Head Necrosis	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
omim:612233	Leukodystrophy, hypomyelinating, 4	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D051799	Delayed Graft Function	C23	Pathological Conditions, Signs and Symptoms
omim:136900	Sorsby fundus dystrophy	C11	Eye Diseases
omim:300260	Mental retardation, X-linked, Lubs type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300263	Mental retardation syndrome, X-linked, Siderius type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603285	Cerebral cavernous malformations 3	C10	Nervous system Diseases
omim:603284	Cerebral cavernous malformations-2	C04; C10; C14; C15; C16	Neoplasms; Nervous system Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612247	Crouzon syndrome with acanthosis nigricans	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612245	Inflammatory bowel disease 14, susceptibility to	NA	Unclassified
omim:612244	Inflammatory bowel disease 13, susceptibility to	NA	Unclassified
omim:610102	C7 deficiency	C20	Immune System Diseases
omim:604187	Spastic paraplegia 10	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:612242	Chromosome 10q23 deletion syndrome	NA	Unclassified
omim:104510	Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612240	Atrial fibrillation, familial, 7	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D005265	Femoral Neck Fractures	C21	Disorders of Environmental Origin
omim:239200	Hyperparathyroidism, neonatal	C19	Endocrine System Diseases
omim:163955	Noonan-like/multiple giant cell lesion syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D003230	Conjunctival Neoplasms	C04; C11	Neoplasms; Eye Diseases
omim:159001	Muscular dystrophy, limb-girdle, type 1B	C05; C10; C14; C16	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:121200	Epilepsy, benign, neonatal, type 1	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003233	Conjunctivitis, Allergic	C11; C20	Eye Diseases; Immune System Diseases
omim:121201	Epilepsy, benign neonatal, type 2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:159000	Muscular dystrophy, limb-girdle, type 1A	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011596	Psychomotor Disorders	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003231	Conjunctivitis	C11	Eye Diseases
omim:601001	Epidermolysis bullosa simplex, recessive	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612219	Ewing sarcoma	NA	Unclassified
omim:305400	Aarskog-Scott syndrome	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:601003	Brody myopathy	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:601005	Timothy syndrome	C05; C10; C14; C16; C18; C20; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:266900	Senior-Loken syndrome-1	C10; C11; C12; C13; C23	Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:601954	Muscular dystrophy, limb-girdle, type 2G	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:258660	Nonarteritic anterior ischemic optic neuropathy, susceptibility to	C10; C11; C14	Nervous system Diseases; Eye Diseases; Cardiovascular Diseases
mesh:D039141	Muscular Dystrophy, Oculopharyngeal	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006314	Hearing Loss, Conductive	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:236670	Muscular dystrophy, congenital, plus mental retardation	C05; C10; C11; C16	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011561	Pseudoxanthoma Elasticum	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006311	Hearing Disorders	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003248	Constipation	C23	Pathological Conditions, Signs and Symptoms
mesh:D006317	Hearing Loss, Noise-Induced	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:112310	Boomerang dysplasia	C05	Musculoskeletal Diseases
mesh:D011565	Psoriasis	C17	Skin and Connective Tissue Diseases
omim:604804	Microcephaly, primary autosomal recessive, 3	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006319	Hearing Loss, Sensorineural	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:275355	Squamous cell carcinoma, head and neck	C04	Neoplasms
mesh:D003240	Connective Tissue Diseases	C17	Skin and Connective Tissue Diseases
omim:612229	Colorectal cancer, susceptiblity to, 3	NA	Unclassified
omim:300291	Ectodermal dysplasia, hypohidrotic, with immune deficiency	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612227	Diabetes mellitus, ketosis-prone	NA	Unclassified
omim:612228	Stature quantitative trait locus 14; stqtl14	NA	Unclassified
mesh:D055623	Keratosis, Actinic	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:612221	Stature quantitative trait locus 10; stqtl10	NA	Unclassified
omim:601942	Diabetes, mellitus, insulin-dependent, susceptibility to, 10	C18	Nutritional and Metabolic Diseases
omim:208150	Fetal akinesia deformation sequence	C05; C13; C16	Musculoskeletal Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612225	Maturity-onset diabetes of the young, type IX	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:612226	Stature quantitative trait locus 13; stqtl13	NA	Unclassified
omim:179620	Blood group, Raph	C12; C13; C16; C17	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612223	Stature quantitative trait locus 11; stqtl11	NA	Unclassified
omim:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:236680	Hydrolethalus syndrome	C05; C07; C10; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604168	Congenital cataracts, facial dysmorphism, and neuropathy	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D006323	Heart Arrest	C14	Cardiovascular Diseases
omim:604169	Left ventricular noncompaction, familial isolated, 1	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300299	Neutropenia, severe congenital, X-linked	C15	Hemic and Lymphatic Diseases
mesh:D006327	Heart Block	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003251	Constriction, Pathologic	C23	Pathological Conditions, Signs and Symptoms
mesh:D020426	Sciatic Neuropathy	C10	Nervous system Diseases
omim:192605	Ventricular tachycardia, idiopathic	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:184460	Stapes ankylosis with broad thumb and toes	C05; C09; C10; C11; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D013716	Tennis Elbow	C05; C21	Musculoskeletal Diseases; Disorders of Environmental Origin
omim:255960	Myxoma, intracardiac	C04; C14	Neoplasms; Cardiovascular Diseases
omim:611953	Macular degeneration, age-related, 11	C11	Eye Diseases
omim:601067	Usher syndrome, type 1D	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:611955	Prostate cancer, hereditary, 11; hpc11	C04; C12	Neoplasms; Male Urogenital Diseases
mesh:D013724	Teratoma	C04	Neoplasms
mesh:D019320	Embolism, Paradoxical	C14	Cardiovascular Diseases
mesh:D006338	Heart Neoplasms	C04; C14	Neoplasms; Cardiovascular Diseases
mesh:D006337	Heart Murmurs	C23	Pathological Conditions, Signs and Symptoms
mesh:D006333	Heart Failure	C14	Cardiovascular Diseases
mesh:D005235	Fatty Liver, Alcoholic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
mesh:D006332	Cardiomegaly	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006331	Heart Diseases	C14	Cardiovascular Diseases
omim:609909	Cardiomyopathy, dilated, 1P	C14	Cardiovascular Diseases
mesh:D006330	Heart Defects, Congenital	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604864	Osteoarthritis with mild chondrodysplasia	C05	Musculoskeletal Diseases
mesh:D005234	Fatty Liver	C06	Digestive System Diseases
omim:612201	Atrial fibrillation, familial, 6	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:611943	RIDDLE syndrome	C10; C20; C23; F03	Nervous system Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:611942	Epilepsy, idiopathic generalized, susceptibility to, 6	C10	Nervous system Diseases
mesh:D019337	Hematologic Neoplasms	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:601072	Deafness, autosomal recessive 8, childhood onset	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D013733	Testicular Diseases	C12; C19	Male Urogenital Diseases; Endocrine System Diseases
mesh:D006349	Heart Valve Diseases	C14	Cardiovascular Diseases
omim:601071	Auditory neuropathy, autosomal recessive, 1	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D013734	Androgen-Insensitivity Syndrome	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D013736	Testicular Neoplasms	C04; C12; C19	Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
omim:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:604145	Cardiomyopathy, dilated, 1G	C14	Cardiovascular Diseases
mesh:D006345	Heart Septal Defects, Ventricular	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:113000	Brachydactyly, type B1	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006344	Heart Septal Defects, Atrial	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005221	Fatigue	C23	Pathological Conditions, Signs and Symptoms
omim:210370	Bietti crystalline corneoretinal dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:149730	LADD syndrome	C05; C07; C09; C10; C11; C16; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D006343	Heart Septal Defects	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D019339	Port-Wine Stain	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D003929	Diabetic Neuropathies	C10; C19	Nervous system Diseases; Endocrine System Diseases
omim:608393	Microcephaly, primary autosomal recessive, 6	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:165300	Optic atrophy and cataract	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D003925	Diabetic Angiopathies	C14; C19	Cardiovascular Diseases; Endocrine System Diseases
mesh:D003928	Diabetic Nephropathies	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:608395	Karak syndrome	C10; C16; C18; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:274800	Thyroid hormonogenesis, genetic defect in, 4	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:611928	Prostate cancer, hereditary, 13	C04; C12	Neoplasms; Male Urogenital Diseases
mesh:D013700	Giant Cell Arteritis	C10; C14; C17; C20	Nervous system Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
omim:604116	Cone-rod dystrophy 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604117	Vohwinkel syndrome with ichthyosis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:604841	Stickler syndrome, type II	C05; C11; C17	Musculoskeletal Diseases; Eye Diseases; Skin and Connective Tissue Diseases
omim:159900	Dystonia, myoclonic	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003930	Diabetic Retinopathy	C11; C14; C19	Eye Diseases; Cardiovascular Diseases; Endocrine System Diseases
mesh:D003919	Diabetes Insipidus	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D003914	Dextrocardia	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:167320	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia	C05; C10; F03	Musculoskeletal Diseases; Nervous system Diseases; Mental Disorders
mesh:D013708	Tendon Injuries	C21	Disorders of Environmental Origin
mesh:D013705	Temporomandibular Joint Disorders	C05; C07	Musculoskeletal Diseases; Stomatognathic Diseases
mesh:D003924	Diabetes Mellitus, Type 2	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:302060	Barth syndrome	C05; C10; C14; C15; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003922	Diabetes Mellitus, Type 1	C18; C19; C20	Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System Diseases
omim:604129	Epidermolysis bullosa pruriginosa	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D003921	Diabetes Mellitus, Experimental	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D003920	Diabetes Mellitus	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:115210	Cardiomyopathy, familial restrictive	C14	Cardiovascular Diseases
mesh:D003095	Collagen Diseases	C17	Skin and Connective Tissue Diseases
mesh:D005402	Fistula	C23	Pathological Conditions, Signs and Symptoms
omim:125595	Dermatopathia pigmentosa reticularis	C16; C17; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:113100	Brachydactyly, type C	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611291	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	C05; C10; C16; C18; C20; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:235730	Mowat-Wilson syndrome	C05; C06; C10; C16; C23; F03	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610163	Immunodeficiency due to defect in CD3-zeta	C20	Immune System Diseases
omim:610168	Loeys-Dietz syndrome, type 1B	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D017180	Tachycardia, Ventricular	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:610798	Immunodeficiency due to defect in MAPBP-interacting protein	C20	Immune System Diseases
omim:610799	Invasive pneumococcal disease, recurrent isolated, 1	C01	Bacterial Infections and Mycoses
omim:601780	Ceroid-lipofuscinosis, neuronal-6, variant late infantile	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:249500	Mental retardation, autosomal recessive 1	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D003092	Colitis	C06	Digestive System Diseases
mesh:D003093	Colitis, Ulcerative	C06	Digestive System Diseases
omim:606217	Atrioventricular septal defect, partial, with heterotaxy syndrome	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611283	Isobutyryl-CoA dehydrogenase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610153	Deafness, autosomal recessive 49	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:610155	Diabetes mellitus, insulin-dependent, 19	C18; C19; C20	Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System Diseases
omim:255110	Myopathy due to CPT II deficiency	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008305	Malignant Hyperthermia	C23	Pathological Conditions, Signs and Symptoms
omim:117300	Dementia, familial Danish	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D013896	Thoracic Diseases	C08	Respiratory Tract Diseases
omim:610188	Joubert syndrome 5	C08; C10; C11; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610189	Senior-Loken syndrome 6	C11; C12; C13; C16	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:262650	Kowarski syndrome	C05; C10; C19	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases
omim:610187	Diaphragmatic hernia 3	C23	Pathological Conditions, Signs and Symptoms
omim:612400	Osteoarthritis susceptibility 5; os5	C05	Musculoskeletal Diseases
mesh:D011625	Pterygium	C11	Eye Diseases
mesh:D003072	Cognition Disorders	F03	Mental Disorders
mesh:D011628	Puberty, Delayed	C19	Endocrine System Diseases
mesh:D011629	Puberty, Precocious	C19	Endocrine System Diseases
mesh:D009889	Opisthorchiasis	C03	Parasitic Diseases
mesh:D009886	Ophthalmoplegia	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D053307	Hyper-IgM Immunodeficiency Syndrome, Type 1	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D053306	Hyper-IgM Immunodeficiency Syndrome	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:601777	Cone-rod dystrophy 6	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606232	Chromosome 22q13.3 deletion syndrome	C10; C16; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D009896	Optic Atrophy	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D011618	Psychotic Disorders	F03	Mental Disorders
mesh:D006523	Hepatitis, Toxic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
mesh:D006521	Hepatitis, Chronic	C06	Digestive System Diseases
mesh:D011654	Pulmonary Edema	C08	Respiratory Tract Diseases
mesh:D011655	Pulmonary Embolism	C08; C14	Respiratory Tract Diseases; Cardiovascular Diseases
mesh:D011656	Pulmonary Emphysema	C08	Respiratory Tract Diseases
mesh:D006529	Hepatomegaly	C23	Pathological Conditions, Signs and Symptoms
mesh:D011657	Pulmonary Eosinophilia	C08; C15	Respiratory Tract Diseases; Hemic and Lymphatic Diseases
mesh:D006528	Carcinoma, Hepatocellular	C04; C06	Neoplasms; Digestive System Diseases
omim:608569	Cardiomyopathy, dilated, 1O	C14	Cardiovascular Diseases
mesh:D006527	Hepatolenticular Degeneration	C06; C10; C16; C18	Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006526	Hepatitis C	C02; C06	Virus Diseases; Digestive System Diseases
omim:608567	Sick sinus syndrome 1	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003057	Cockayne Syndrome	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608565	Deafness, autosomal recessive 35	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D049290	Tay-Sachs Disease, AB Variant	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610127	Ceroid lipofuscinosis, neuronal, 10	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610756	Cerebrooculofacioskeletal syndrome 2	C04; C05; C10; C11; C16; C17; C18; C23; F03	Neoplasms; Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610755	Multiple endocrine neoplasia, type IV	C04; C16; C19	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:610758	Cerebrooculofacioskeletal syndrome 4	C05; C10; C11; C16; F03	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D049292	Leukoaraiosis	C23	Pathological Conditions, Signs and Symptoms
omim:610759	Cornelia de Lange syndrome 3	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011649	Pulmonary Alveolar Proteinosis	C08	Respiratory Tract Diseases
omim:610125	Microphthalmia, syndromic 5	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:176500	Dementia, familial British	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D000799	Angioedema	C14; C17; C20	Cardiovascular Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D000795	Fabry Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000793	Angioid Streaks	C11	Eye Diseases
mesh:D006519	Hepatitis, Alcoholic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
omim:219500	Cystathioninuria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608556	Legionaire disease, susceptibility to	C20; C23	Immune System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D049288	Muscular Dystrophies, Limb-Girdle	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610765	Ichthyosis with hypotrichosis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:229070	Follicle-stimulating hormone deficiency, isolated	C13; C19; C23	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:610768	Congenital disorder of glycosylation, type Im	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:208085	ARC syndrome	C05; C06; C16	Musculoskeletal Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:278400	Albinism, rufous	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D006501	Hepatic Encephalopathy	C06; C10; C18	Digestive System Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
mesh:D011671	Pulpitis	C07	Stomatognathic Diseases
mesh:D006505	Hepatitis	C06	Digestive System Diseases
mesh:D006504	Hepatic Veno-Occlusive Disease	C06; C14	Digestive System Diseases; Cardiovascular Diseases
mesh:D006502	Budd-Chiari Syndrome	C06; C14	Digestive System Diseases; Cardiovascular Diseases
omim:184500	Steatocystoma multiplex	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D006509	Hepatitis B	C02; C06	Virus Diseases; Digestive System Diseases
mesh:D006506	Hepatitis A	C02; C06	Virus Diseases; Digestive System Diseases
omim:305450	Opitz-Kaveggia syndrome	C05; C06; C10; C16; C23; F03	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:608584	Asthma, susceptibility to, 2	C08; C18	Respiratory Tract Diseases; Nutritional and Metabolic Diseases
omim:608583	Atrial fibrillation	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:301900	Borjeson-Forssman-Lehmann syndrome	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D019294	Xanthomatosis, Cerebrotendinous	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:255125	Myopathy with exercise intolerance, Swedish type	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:610149	Macular degeneration, age-related, 7	C11	Eye Diseases
omim:255120	CPT deficiency, hepatic, type IA	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610773	Micochondrial phosphate carrier deficiency	C10; C14; C18; C23	Nervous system Diseases; Cardiovascular Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:610141	QT interval, modifier of	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:610140	Heart-hand syndrome, slovenian type	C05; C14; C16	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011660	Pulmonary Heart Disease	C14	Cardiovascular Diseases
mesh:D003027	Cluster Headache	C10	Nervous system Diseases
mesh:D003025	Clubfoot	C05	Musculoskeletal Diseases
omim:608579	Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to	C07; C17; C20; C21	Stomatognathic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Disorders of Environmental Origin
mesh:D014202	Tremor	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011668	Pulmonary Veno-Occlusive Disease	C08; C14	Respiratory Tract Diseases; Cardiovascular Diseases
mesh:D011666	Pulmonary Valve Stenosis	C14	Cardiovascular Diseases
omim:153700	Best macular dystrophy	C11	Eye Diseases
mesh:D019280	Branchio-Oto-Renal Syndrome	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:229050	Folate malabsorption, hereditary	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
mesh:D011658	Pulmonary Fibrosis	C08	Respiratory Tract Diseases
omim:256300	Nephrosis-1, congenital, Finnish type	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D029593	Jervell-Lange Nielsen Syndrome	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:602025	Obesity, severe, susceptibility to, BMIQ9	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:188000	Thrombocytopenia-2	C15	Hemic and Lymphatic Diseases
omim:610713	Brachydactyly-syndactyly syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008375	Maple Syrup Urine Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007619	Kartagener Syndrome	C08; C09; C14; C16	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018512	Parasitemia	C03; C23	Parasitic Diseases; Pathological Conditions, Signs and Symptoms
omim:225753	Pontocerebellar hypoplasia type 4	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610706	Deafness, congenital with inner ear agenesis, microtia, and microdontia	C07; C09; C10; C16; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D016523	Foot Ulcer	C17	Skin and Connective Tissue Diseases
mesh:D029597	Romano-Ward Syndrome	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D015785	Eye Diseases, Hereditary	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015783	Aniridia	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:225750	Aicardi-Goutieres syndrome 1, dominant and recessive	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009837	Oligodendroglioma	C04	Neoplasms
omim:246200	Leprechaunism	C05; C16; C18; C19; C23	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:602014	Hypomagnesemia with secondary hypocalcemia	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
omim:141200	Hematuria, benign familial	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:611209	Cerebrocostomandibular-like syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610725	Nephrotic syndrome, type 3	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D008382	Marfan Syndrome	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D038901	Mental Retardation, X-Linked	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610717	Neutral lipid storage disease with myopathy	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:308050	CHILD syndrome	C05; C16; C17; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D016518	Neurofibromatosis 2	C04; C09; C10; C16	Neoplasms; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017119	Porphyria Cutanea Tarda	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D008380	Marek Disease	C02; C04; C15; C20; C22	Virus Diseases; Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases; Animal Diseases
mesh:D017118	Porphyria, Acute Intermittent	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:151623	Li Fraumeni syndrome	C04; C16; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607748	Hypercholanemia, familial	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
mesh:D015792	Retinal Dysplasia	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016511	Severe Combined Immunodeficiency	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
omim:118800	Paroxysmal nonkinesigenic dyskinesia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016510	Corneal Neovascularization	C11	Eye Diseases
mesh:D017114	Liver Failure, Acute	C06	Digestive System Diseases
mesh:D015794	Choroideremia	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607745	Seizures, benign familial neonatal-infantile	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D054069	Multiple Acyl Coenzyme A Dehydrogenase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D052016	Mucositis	C06; C07	Digestive System Diseases; Stomatognathic Diseases
mesh:D054066	Leukemia, Large Granular Lymphocytic	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D009807	Odontogenic Cysts	C04; C05; C07	Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
mesh:D009808	Odontogenic Tumors	C04	Neoplasms
omim:610738	Neutropenia, severe congenital, autosomal recessive 3	C15	Hemic and Lymphatic Diseases
omim:608540	Congenital disorder of glycosylation, type Ik	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610733	Noonan syndrome 4	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D009800	Oculocerebrorenal Syndrome	C10; C12; C13; C16; C18	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D016506	Pemphigus, Benign Familial	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D017121	Porphyria, Hepatoerythropoietic	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:607778	Acrocapitofemoral dysplasia	C05; C16; C23	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D010580	Peutz-Jeghers Syndrome	C04; C06; C16; C17	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D054058	Acute Coronary Syndrome	C14	Cardiovascular Diseases
omim:610743	Spinocerebellar ataxia, autosomal recessive 8	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602036	Erythrokeratoderma, progressive symmetric	C17	Skin and Connective Tissue Diseases
omim:611228	Charcot-Marie-Tooth disease, type 4J	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602032	Ectodermal dysplasia, 'pure' hair-nail type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D015776	Keratoderma, Palmoplantar, Diffuse	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:310468	Nephrolithiasis, type I	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D008363	alpha-Mannosidosis	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607765	Cholestasis, progressive familial intrahepatic 4	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D052018	Bulimia Nervosa	F03	Mental Disorders
mesh:D010518	Periodontitis	C07	Stomatognathic Diseases
omim:253700	Muscular dystrophy, limb-girdle, type 2C	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D053360	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D054082	Lissencephaly	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:104290	Alternating hemiplegia of childhood	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:264700	Vitamin D-dependent rickets, type I	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
omim:607791	Charcot-Marie-Tooth disease, dominant intermediate 3	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:261100	Megaloblastic anemia-1, Finnish type	C15	Hemic and Lymphatic Diseases
mesh:D053359	Ectodermal Dysplasia 3, Anhidrotic	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D004310	Double Outlet Right Ventricle	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010524	Peripheral Nervous System Neoplasms	C04; C10	Neoplasms; Nervous system Diseases
mesh:D004314	Down Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010523	Peripheral Nervous System Diseases	C10	Nervous system Diseases
mesh:D016569	Blepharophimosis	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D035583	Rare Diseases	C23	Pathological Conditions, Signs and Symptoms
mesh:D010520	Aggressive Periodontitis	C07	Stomatognathic Diseases
mesh:D012769	Shock	C23	Pathological Conditions, Signs and Symptoms
mesh:D009877	Endophthalmitis	C01; C11	Bacterial Infections and Mycoses; Eye Diseases
mesh:D008342	Mandibulofacial Dysostosis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010505	Familial Mediterranean Fever	C16; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:610198	3-methylglutaconic aciduria, type V	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606255	Stature as a quantitative trait	NA	Unclassified
mesh:D054078	Mevalonate Kinase Deficiency	C10; C15; C16; C18; C20	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D054079	Vascular Malformations	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	C05; C16; C18; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:270450	Insulin-like growth factor I, resistance to	NA	Unclassified
mesh:D016553	Purpura, Thrombocytopenic, Idiopathic	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018567	Breast Neoplasms, Male	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D012772	Shock, Septic	C01; C23	Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms
omim:147480	Cholestasis, familial intrahepatic, of pregnancy	C06	Digestive System Diseases
mesh:D010510	Periodontal Diseases	C07	Stomatognathic Diseases
mesh:D012778	Short Bowel Syndrome	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
omim:265380	Alveolar capillary dysplasia with misalignment of pulmony veins	C08; C16	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010538	Peritonitis	C06	Digestive System Diseases
mesh:D009845	Oligospermia	C12	Male Urogenital Diseases
omim:611277	Febrile convulsions, familial, 8	C10	Nervous system Diseases
omim:124000	Mitochondrial complex III deficiency	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D002971	Cleft Lip	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:262600	Pituitary hormone deficiency, combined	C05; C10; C19	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases
mesh:D002972	Cleft Palate	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002973	Cleidocranial Dysplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054091	Periventricular Nodular Heterotopia	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009855	Onchocerciasis	C03; C17	Parasitic Diseases; Skin and Connective Tissue Diseases
mesh:D008325	Mammary Neoplasms, Experimental	C04	Neoplasms
mesh:D054098	Thrombocytopenia, Neonatal Alloimmune	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054882	Antley-Bixler Syndrome Phenotype	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D053358	Ectodermal Dysplasia 1, Anhidrotic	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:235700	Hemolytic anemia due to hexokinase deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611263	Asphyxiating thoracic dystrophy 2	C05; C08; C11; C12; C13; C16; C21; C23	Musculoskeletal Diseases; Respiratory Tract Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disorders of Environmental Origin; Pathological Conditions, Signs and Symptoms
mesh:D012791	Shy-Drager Syndrome	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D054877	Wolf-Hirschhorn Syndrome	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004342	Drug Hypersensitivity	C20	Immune System Diseases
mesh:D012793	Sialadenitis	C07	Stomatognathic Diseases
omim:605543	Parkinson disease 4, autosomal dominant Lewy body	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D016532	Mucopolysaccharidosis II	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:206700	Aniridia, cerebellar ataxia, and mental deficiency	C10; C11; C16; C23; F03	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D016535	Bronchial Hyperreactivity	C08	Respiratory Tract Diseases
mesh:D016537	Gangliosidosis, GM1	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D018589	Gastroparesis	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016538	Mucopolysaccharidosis VII	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:203400	Hypoaldosteronism, congenital, due to CMO I deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D012734	Sex Differentiation Disorders	C12; C13; C16; C19; F03	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders
mesh:D007569	Jaw Abnormalities	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602093	Cone dystrophy-3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602092	Deafness, autosomal recessive 18	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001035	Aphakia	C11	Eye Diseases
mesh:D001037	Aphasia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007562	Creutzfeldt-Jakob Syndrome	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D016472	Motor Neuron Disease	C10	Nervous system Diseases
mesh:D016471	Ovarian Hyperstimulation Syndrome	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D007567	Jaundice, Neonatal	C16; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:212500	Cataract, congenital or juvenile	C11	Eye Diseases
mesh:D007566	Jaundice, Chronic Idiopathic	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007565	Jaundice	C23	Pathological Conditions, Signs and Symptoms
mesh:D004240	Diverticulum	C23	Pathological Conditions, Signs and Symptoms
mesh:D041781	Jaundice, Obstructive	C23	Pathological Conditions, Signs and Symptoms
mesh:D020528	Multiple Sclerosis, Chronic Progressive	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D020529	Multiple Sclerosis, Relapsing-Remitting	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D016470	Bacteremia	C01; C23	Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms
mesh:D001022	Aortic Valve Insufficiency	C14	Cardiovascular Diseases
mesh:D004238	Diverticulitis	C06	Digestive System Diseases
omim:111620	Blood group, Radin	NA	Unclassified
mesh:D016483	Lymphoma, AIDS-Related	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D001024	Aortic Valve Stenosis	C14	Cardiovascular Diseases
mesh:D002006	Brucellosis	C01	Bacterial Infections and Mycoses
mesh:D016489	Head Injuries, Closed	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
omim:270420	Diarrhea 3, secretory sodium, congenital, syndromic	C23	Pathological Conditions, Signs and Symptoms
omim:268210	Rhabdomyosarcoma	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D016481	Helicobacter Infections	C01	Bacterial Infections and Mycoses
omim:254300	Myasthenia, limb-girdle, familial	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012751	Sezary Syndrome	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D001017	Aortic Coarctation	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605588	Charcot-Marie-Tooth disease, type 2B1	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001018	Aortic Diseases	C14	Cardiovascular Diseases
omim:157170	Holoprosencephaly-2	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020512	Myopathy, Central Core	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D001014	Aortic Aneurysm	C14	Cardiovascular Diseases
mesh:D041761	Cholecystolithiasis	C06	Digestive System Diseases
omim:245010	Haim-Munk syndrome	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:605583	Deafness, autosomal dominant 25	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:268200	Myoglobinuria, acute recurrent, autosomal recessive	C05	Musculoskeletal Diseases
mesh:D001816	Bloom Syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611879	Cardiomyopathy, dilated, 1Z	C14	Cardiovascular Diseases
omim:611878	Cardiomyopathy, dilated, 1Y	C14	Cardiovascular Diseases
omim:611876	Brugada syndrome 4	NA	Unclassified
omim:611875	Brugada syndrome 3	NA	Unclassified
omim:202200	Glucocorticoid deficiency, due to ACTH unresponsiveness	C19	Endocrine System Diseases
omim:127700	Dyslexia, susceptibility to, 1	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D001008	Anxiety Disorders	F03	Mental Disorders
mesh:D016464	Lysosomal Storage Diseases	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001006	Anus, Imperforate	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020521	Stroke	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D020520	Brain Infarction	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D001005	Anus Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D001002	Anuria	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D020522	Lymphoma, Mantle-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D020513	Paralysis, Hyperkalemic Periodic	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020514	Hypokalemic Periodic Paralysis	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611862	White blood cell count QTL	NA	Unclassified
mesh:D002925	Ciliary Motility Disorders	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
omim:605594	Deafness, autosomal dominant 36, with dentinogenesis	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020518	Focal Nodular Hyperplasia	C06	Digestive System Diseases
omim:611868	Prostate cancer, hereditary, 12	C04; C12	Neoplasms; Male Urogenital Diseases
omim:230200	Galactokinase deficiency with cataracts	C11; C16; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612371	Major affective disorder-7, susceptibility to	F03	Mental Disorders
mesh:D002037	Bundle-Branch Block	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:612370	Kallmann syndrome 5	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D004283	Dog Diseases	C22	Animal Diseases
mesh:D001072	Apraxias	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002032	Bulimia	C23	Pathological Conditions, Signs and Symptoms
omim:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:158000	Monilethrix	C17	Skin and Connective Tissue Diseases
omim:243800	Johanson-Blizzard syndrome	C06; C07; C08; C09; C10; C12; C13; C16; C19; C23; F03	Digestive System Diseases; Stomatognathic Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:251880	Mitochondrial DNA depletion syndrome, hepatocerebral form	C05; C06; C10; C18	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
omim:612376	Leukemia, acute promyelocytic	NA	Unclassified
mesh:D009912	Oral Manifestations	C07; C23	Stomatognathic Diseases; Pathological Conditions, Signs and Symptoms
omim:611890	Arthrogryposis, lethal, with anterior horn cell disease	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009914	Oral Submucous Fibrosis	C07	Stomatognathic Diseases
omim:611895	Amyotrophic lateral sclerosis 9	C10	Nervous system Diseases
mesh:D002916	Chylothorax	C08	Respiratory Tract Diseases
mesh:D001851	Bone Diseases, Metabolic	C05	Musculoskeletal Diseases
mesh:D001068	Eating Disorders	F03	Mental Disorders
mesh:D012700	Serositis	C23	Pathological Conditions, Signs and Symptoms
omim:260300	Parkinson disease 15, autosomal recessive	C10	Nervous system Diseases
mesh:D001064	Appendicitis	C06	Digestive System Diseases
omim:602875	Acromesomelic dysplasia, Maroteaux type	C05	Musculoskeletal Diseases
omim:169500	Leukodystrophy, adult-onset, autosomal dominant	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001848	Bone Diseases, Developmental	C05	Musculoskeletal Diseases
mesh:D002908	Chronic Disease	C23	Pathological Conditions, Signs and Symptoms
mesh:D001849	Bone Diseases, Endocrine	C05	Musculoskeletal Diseases
mesh:D009902	Optic Neuritis	C10; C11	Nervous system Diseases; Eye Diseases
omim:611880	Cardiomyopathy, dilated, 2A	C14	Cardiovascular Diseases
omim:612387	Sarcoidosis, susceptibility to, 2	NA	Unclassified
mesh:D009901	Optic Nerve Diseases	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D001847	Bone Diseases	C05	Musculoskeletal Diseases
omim:611881	Glycogen storage disease XII	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612389	Pontocerebellar hypoplasia type 2B	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611884	Ciliary dyskinesia, primary, 7, with out without situs inversus	C08; C09; C14; C16	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600737	Inclusion body myopathy, autosomal recessive	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612394	Lysyl hydroxylase 3 deficiency	C05; C09; C10; C14; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:612391	Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism	C09; C10; C14; C16; C17; C19; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:612390	Pontocerebellar hypoplasia type 2C	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602075	Special at-rich sequence-binding protein 1; satb1	NA	Unclassified
mesh:D038921	Coffin-Lowry Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602079	Trimethylaminuria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:241200	Bartter syndrome, type 2	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:602078	Fibrosis of extraocular muscles, congenital, 2	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012707	Sertoli Cell Tumor	C04; C12; C19	Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
mesh:D016491	Peripheral Vascular Diseases	C14	Cardiovascular Diseases
omim:600721	D-2-hydroxyglutaric aciduria	C05; C10; C16; C18; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001859	Bone Neoplasms	C04; C05	Neoplasms; Musculoskeletal Diseases
mesh:D055534	Bulbo-Spinal Atrophy, X-Linked	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:128100	Dystonia-1, torsion	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007511	Ischemia	C23	Pathological Conditions, Signs and Symptoms
omim:607736	Charcot-Marie-Tooth disease, type 2J	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607734	Charcot-Marie-Tooth disease, type 1F	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:140600	Osteoarthritis susceptibility 2	C05	Musculoskeletal Diseases
omim:602083	Usher syndrome, type 1F	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:602082	Corneal dystrophy, Thiel-Behnke type	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:212550	Microphthalmia, isolated, with cataract 2	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602088	Nephronophthisis 2, infantile	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602089	Hemangioma, capillary infantile, somatic	C04	Neoplasms
omim:259600	Torg-Winchester syndrome	C05	Musculoskeletal Diseases
omim:267430	Renal tubular dysgenesis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:108300	Stickler syndrome, type I	C05; C10; C11; C14; C17; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000746	Anemia, Hemolytic, Congenital Nonspherocytic	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:177720	Pseudohyperkalemia, familial	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000749	Anemia, Megaloblastic	C15	Hemic and Lymphatic Diseases
omim:612336	Thrombophilia due to protein S deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603147	Congenital disorder of glycosylation, type Ic	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D011686	Purine-Pyrimidine Metabolism, Inborn Errors	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003123	Colorectal Neoplasms, Hereditary Nonpolyposis	C04; C06; C16; C18	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300166	Microphthalmia, syndromic 2	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000752	Anemia, Pernicious	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
mesh:D000751	Anemia, Neonatal	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000754	Anemia, Refractory, with Excess of Blasts	C15	Hemic and Lymphatic Diseases
mesh:D000753	Anemia, Refractory	C15	Hemic and Lymphatic Diseases
mesh:D003128	Coma	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006432	Hemochromatosis	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000756	Anemia, Sideroblastic	C15	Hemic and Lymphatic Diseases
mesh:D011681	Pupil Disorders	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000755	Anemia, Sickle Cell	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000757	Anencephaly	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610202	Cataract, congenital, cerulean type, 4	C11	Eye Diseases
omim:179850	Dowling-Degos disease	C17	Skin and Connective Tissue Diseases
omim:612347	Jervell and Lange-Nielsen syndrome 2	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:612348	Hyperfibrinolysis, familial, due to increased release of PLAT	C15	Hemic and Lymphatic Diseases
omim:603965	Glomerulosclerosis, focal segmental, 2	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:251850	Microvillus inclusion disease	C23	Pathological Conditions, Signs and Symptoms
mesh:D011697	Purpura, Thrombotic Thrombocytopenic	C14; C15	Cardiovascular Diseases; Hemic and Lymphatic Diseases
mesh:D011696	Purpura, Thrombocytopenic	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:121300	Coproporphyria	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D013005	Somatostatinoma	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
mesh:D005368	Filariasis	C03	Parasitic Diseases
mesh:D013001	Somatoform Disorders	F03	Mental Disorders
mesh:D003139	Common Cold	C02; C08	Virus Diseases; Respiratory Tract Diseases
mesh:D011693	Purpura	C15; C23	Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
omim:146300	Hypophosphatasia, adult	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:601815	Phosphoglycerate dehydrogenase deficiency	C05; C10; C16; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:612356	Thrombophilia due to heparin cofactor II deficiency	C14; C15	Cardiovascular Diseases; Hemic and Lymphatic Diseases
omim:601813	Exudative vitreoretinopathy 4	C11	Eye Diseases
omim:610217	Neurodegeneration with brain iron accumulation	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612359	Cowden-like syndrome	C18	Nutritional and Metabolic Diseases
omim:275210	Restrictive dermopathy, lethal	C05; C13; C16; C17; C23	Musculoskeletal Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:110100	Blepharophimosis, epicanthus inversus, and ptosis, type 1	C11; C16; C17	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:125500	Dentinogenesis imperfecta, Shields type III	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300143	Mental retardation, X-linked, 21/34	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006417	Hematuria	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D003103	Coloboma	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612350	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D049309	Acanthoma	C04	Neoplasms
omim:102900	Adenosine triphosphate, elevated, of erythrocytes	NA	Unclassified
omim:208050	Arterial tortuosity syndrome	C14	Cardiovascular Diseases
omim:610220	Deafness, autosomal recessive 59	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D043183	Irritable Bowel Syndrome	C06	Digestive System Diseases
omim:612362	Obesity, susceptiblity to, BMIQ12	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:601800	Skin/hair/eye pigmentation 3, freckling	C17	Skin and Connective Tissue Diseases
omim:610227	Seborrhea-like dermatitis with psoriasiform elements	C17	Skin and Connective Tissue Diseases
mesh:D006429	Hemiplegia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D049310	Distal Myopathies	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003111	Colonic Polyps	C23	Pathological Conditions, Signs and Symptoms
omim:603175	Schizophrenia 5	F03	Mental Disorders
mesh:D003110	Colonic Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D003117	Color Vision Defects	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000789	Angina, Unstable	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000788	Angina Pectoris, Variant	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000787	Angina Pectoris	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:604931	Cortisone reductase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000783	Aneurysm	C14	Cardiovascular Diseases
omim:308800	Keratosis follicularis spinulosa decalvans	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:258501	3-methylglutaconic aciduria, type III	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611812	SERKAL syndrome	C08; C12; C13; C16; C19; F03	Respiratory Tract Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders
omim:208000	Arterial calcification, generalized, of infancy	C12; C13; C14; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Nutritional and Metabolic Diseases
mesh:D006470	Hemorrhage	C23	Pathological Conditions, Signs and Symptoms
mesh:D000707	Anaphylaxis	C20	Immune System Diseases
mesh:D000708	Anaplasia	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D005334	Fever	C23	Pathological Conditions, Signs and Symptoms
mesh:D006474	Hemorrhagic Disorders	C15	Hemic and Lymphatic Diseases
mesh:D014188	Transposition of Great Vessels	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006478	Hemorrhagic Fever, American	C02	Virus Diseases
mesh:D000712	Anaplasmosis	C01; C22	Bacterial Infections and Mycoses; Animal Diseases
omim:611809	Bestrophinopathy	C11	Eye Diseases
omim:260370	Pancreatic agenesis	C06	Digestive System Diseases
omim:222900	Sucrase-isomaltase deficiency, congenital	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:156400	Metaphyseal chondrodysplasia, Murk Jansen type	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612304	Thrombophilia due to protein C deficiency, autosomal recessive	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611804	Elliptocytosis-1	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:192950	Vertical talus, congenital	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:601868	Deafness, autosomal dominant 13	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006480	Hemorrhagic Fever with Renal Syndrome	C02	Virus Diseases
omim:612301	Osteopetrosis, autosomal recessive 7	C05	Musculoskeletal Diseases
omim:612300	CD59 deficiency	C15	Hemic and Lymphatic Diseases
mesh:D005322	Fetal Membranes, Premature Rupture	C13	Female Urogenital Diseases and Pregnancy Complications
omim:133701	Exostoses, multiple, type 2	C04; C05; C16	Neoplasms; Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604004	Megalencephalic leukoencephalopathy with subcortical cysts	C10; C14; F03	Nervous system Diseases; Cardiovascular Diseases; Mental Disorders
omim:139300	Aromatase excess syndrome	C16; C17; C18; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:612318	Pseudofolliculitis barbae, susceptibility to	C17	Skin and Connective Tissue Diseases
omim:601859	Autoimmune lymphoproliferative syndrome, type IA	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:612310	Premature ovarian failure 6	NA	Unclassified
omim:224230	Dyskeratosis congenita	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006457	Hemoglobinuria, Paroxysmal	C15	Hemic and Lymphatic Diseases
omim:310600	Norrie disease	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D005350	Fibroma	C04	Neoplasms
mesh:D007589	Job's Syndrome	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D005351	Fibromatosis, Gingival	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006453	Hemoglobinopathies	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005356	Fibromyalgia	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D005357	Fibrous Dysplasia of Bone	C05	Musculoskeletal Diseases
mesh:D013035	Spasm	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D005354	Fibrosarcoma	C04	Neoplasms
mesh:D005355	Fibrosis	C23	Pathological Conditions, Signs and Symptoms
omim:300183	Noncompaction of left ventricular myocardium, isolated	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013036	Spasms, Infantile	C10	Nervous system Diseases
omim:260350	Pancreatic cancer	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
mesh:D005359	Fibrous Dysplasia, Polyostotic	C05	Musculoskeletal Diseases
omim:611820	Long QT syndrome-11	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:252150	Molybdenum cofactor deficiency, type A	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007592	Joint Diseases	C05	Musculoskeletal Diseases
omim:256370	Mesangial sclerosis, isolated diffuse	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:601847	Cholestasis, progressive familial intrahepatic 2	C06	Digestive System Diseases
mesh:D000744	Anemia, Hemolytic, Autoimmune	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D000745	Anemia, Hemolytic, Congenital	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000742	Anemia, Dyserythropoietic, Congenital	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000743	Anemia, Hemolytic	C15	Hemic and Lymphatic Diseases
mesh:D006467	Hemophilia A	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000740	Anemia	C15	Hemic and Lymphatic Diseases
mesh:D000741	Anemia, Aplastic	C15	Hemic and Lymphatic Diseases
mesh:D006463	Hemolytic-Uremic Syndrome	C12; C13; C15	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases
mesh:D013851	Thinness	C23	Pathological Conditions, Signs and Symptoms
omim:240600	Glycogen storage disease, type 0	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300194	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	C10; C12; C13; C16; C17; C23; F03	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D019214	Gingival Overgrowth	C07	Stomatognathic Diseases
omim:611819	Long QT syndrome-10	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:611818	Long QT syndrome-9	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:104310	Alzheimer disease-2	C10; F03	Nervous system Diseases; Mental Disorders
omim:609753	Celiac disease, susceptibility to, 4	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
mesh:D017714	Community-Acquired Infections	C01	Bacterial Infections and Mycoses
mesh:D009050	Fluorosis, Dental	C07	Stomatognathic Diseases
mesh:D003397	Craniopharyngioma	C04	Neoplasms
omim:609755	Celiac disease, susceptibility to	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
mesh:D003398	Craniosynostoses	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002690	Chlamydia Infections	C01; C12; C13	Bacterial Infections and Mycoses; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:604307	Cataract, Coppock-like	C11	Eye Diseases
mesh:D003394	Craniofacial Dysostosis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D024821	Metabolic Syndrome X	C18	Nutritional and Metabolic Diseases
mesh:D009056	Mouth Abnormalities	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604308	MASS syndrome	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D022861	Hermanski-Pudlak Syndrome	C11; C15; C16; C17; C18	Eye Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D014552	Urinary Tract Infections	C01; C12; C13	Bacterial Infections and Mycoses; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:125250	Optic atrophy and deafness	C09; C10; C11; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:604302	Rheumatoid arthritis, systemic juvenile, susceptibility to	C05; C17; C20	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
omim:228900	Fibular hypoplasia and complex brachydactyly	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D029241	Optic Atrophy, Autosomal Dominant	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008607	Mental Retardation	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D053632	X-Linked Combined Immunodeficiency Diseases	C16; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:162091	Schwannomatosis	C04; C10	Neoplasms; Nervous system Diseases
omim:609741	Cataract, congenital nuclear, 2	C11	Eye Diseases
mesh:D015614	Histiocytosis	C15	Hemic and Lymphatic Diseases
mesh:D011782	Quadriplegia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D005512	Food Hypersensitivity	C20	Immune System Diseases
mesh:D014565	Urogenital Neoplasms	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D003384	Coxsackievirus Infections	C02	Virus Diseases
omim:193670	WHIM syndrome	C01; C02; C04; C15; C17; C20	Bacterial Infections and Mycoses; Virus Diseases; Neoplasms; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D029242	Optic Atrophy, Hereditary, Leber	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:131850	Epidermolysis bullosa, pretibial	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:209880	Central hypoventilation syndrome	C08; C18; C23	Respiratory Tract Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:143095	Humerospinal dysostosis	C05	Musculoskeletal Diseases
omim:277410	Homocystinuria, cblD type, variant 1	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D019190	Iron Overload	C18	Nutritional and Metabolic Diseases
omim:258450	Progressive external ophthalmoplegia, autosomal recessive	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:608681	Spondylocostal dysostosis, autosomal recessive 2	C05	Musculoskeletal Diseases
mesh:D024801	Tauopathies	C10	Nervous system Diseases
mesh:D016606	Thyroid Nodule	C04; C19	Neoplasms; Endocrine System Diseases
mesh:D015624	Lambert-Eaton Myasthenic Syndrome	C04; C10; C20	Neoplasms; Nervous system Diseases; Immune System Diseases
mesh:D019964	Mood Disorders	F03	Mental Disorders
omim:609734	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	C18; C19; C23	Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009072	Moyamoya Disease	C10; C14	Nervous system Diseases; Cardiovascular Diseases
omim:608688	AICA-ribosiduria due to ATIC deficiency	C10; C11; C16; C18; C23	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:603471	Citrullinemia, adult-onset type II	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014571	Urologic Neoplasms	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D017731	Lymphomatoid Papulosis	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D019966	Substance-Related Disorders	C21; F03	Disorders of Environmental Origin; Mental Disorders
omim:302350	Nance-Horan syndrome	C11	Eye Diseases
omim:277400	Methylmalonic aciduria and homocystinuria, cblC type	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:608673	Charcot-Marie-Tooth disease, axonal, type 2L	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017719	Diabetic Foot	C14; C17; C19	Cardiovascular Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
mesh:D009069	Movement Disorders	C10	Nervous system Diseases
mesh:D050090	Hermaphroditism, True	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D012497	Sandhoff Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D019973	Alcohol-Related Disorders	C21; F03	Disorders of Environmental Origin; Mental Disorders
mesh:D017728	Lymphoma, Large-Cell, Anaplastic	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:204870	Corneal dystrophy, gelatinous drop-like	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009062	Mouth Neoplasms	C04; C07	Neoplasms; Stomatognathic Diseases
mesh:D019189	Iron Metabolism Disorders	C18	Nutritional and Metabolic Diseases
mesh:D000437	Alcoholism	C21; F03	Disorders of Environmental Origin; Mental Disorders
mesh:D014582	Urticaria Pigmentosa	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D014581	Urticaria	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
omim:145500	Hypertension, essential	C14	Cardiovascular Diseases
mesh:D000430	Alcohol Withdrawal Delirium	C10; C21; F03	Nervous system Diseases; Disorders of Environmental Origin; Mental Disorders
mesh:D009765	Obesity	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:604348	Advanced sleep phase syndrome, familial	C10; C21; F03	Nervous system Diseases; Disorders of Environmental Origin; Mental Disorders
mesh:D014594	Uterine Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D014592	Uterine Hemorrhage	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D013064	Speech Disorders	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D014591	Uterine Diseases	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D005547	Foreign Bodies	C21	Disorders of Environmental Origin
omim:177170	Pseudoachondroplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606593	LIG4 syndrome	C20; C23; F03	Immune System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:606595	Charcot-Marie-Tooth disease, axonal, type 2F	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:311300	Otopalatodigital syndrome, type I	C05; C07; C09; C10; C16; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:110500	Blood group, Diego	C15	Hemic and Lymphatic Diseases
omim:216550	Cohen syndrome	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:218600	Baller-Gerold syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609706	Deafness, autosomal recessive 53	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009771	Obsessive-Compulsive Disorder	F03	Mental Disorders
mesh:D008654	Mesothelioma	C04	Neoplasms
omim:277450	Vitamin K-dependent coagulation defect	C15	Hemic and Lymphatic Diseases
mesh:D009784	Occupational Diseases	C21	Disorders of Environmental Origin
mesh:D008659	Metabolic Diseases	C18	Nutritional and Metabolic Diseases
omim:604320	Neuronopathy, distal hereditary motor, type VI	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D013991	Tietze's Syndrome	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D017772	Amyloid Neuropathies	C10; C18	Nervous system Diseases; Nutritional and Metabolic Diseases
omim:604326	Spinocerebellar ataxia 12	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009798	Ocular Hypertension	C11	Eye Diseases
omim:277440	Rickets, vitamin D-resistant, type IIA	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D008661	Metabolism, Inborn Errors	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606574	Oculocutaneous albinism, type IV	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:606579	Vitiligo-associated multiple autoimmune disease susceptibility 1	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D013981	Tic Disorders	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D000474	Alkaptonuria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:202700	Neutropenia, congenital	C15	Hemic and Lymphatic Diseases
mesh:D005532	Foot Deformities, Congenital	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D034381	Hearing Loss	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:275630	Chanarin-Dorfman syndrome	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D000471	Alkalosis	C18	Nutritional and Metabolic Diseases
mesh:D005536	Foot-and-Mouth Disease	C02; C22	Virus Diseases; Animal Diseases
omim:608622	Hypertension, diastolic, resistance to	C14	Cardiovascular Diseases
omim:608627	Amyotrophic lateral sclerosis 8	C10	Nervous system Diseases
omim:261000	Intrinsic factor deficiency	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:608629	Joubert syndrome-3	C08; C10; C11; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D002613	Cheilitis	C07	Stomatognathic Diseases
omim:611391	Cataract, cortical, juvenile-onset	C11	Eye Diseases
mesh:D008232	Lymphoproliferative Disorders	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	C05; C15; C16	Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:107970	Arrhythmogenic right ventricular dysplasia 1	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002609	Chediak-Higashi Syndrome	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:609180	Congenital disorder of glycosylation, type If	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008231	Lymphopenia	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D002607	Charcot-Marie-Tooth Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011704	Pyelonephritis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:253600	Muscular dystrophy, limb-girdle, type 2A	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:115150	Cardiofaciocutaneous syndrome	C10; C14; C16; C17; C23; F03	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D008679	Metaplasia	C23	Pathological Conditions, Signs and Symptoms
omim:253601	Muscular dystrophy, limb-girdle, type 2B	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:277470	Pontocerebellar hypoplasia type 2A	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016657	Cerebral Amyloid Angiopathy	C10; C14; C18	Nervous system Diseases; Cardiovascular Diseases; Nutritional and Metabolic Diseases
omim:114030	Cafe-au-lait spots, multiple	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:608611	Ribose 5-phosphate isomerase deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608612	Mandibuloacral dysplasia with type B lipodystrophy	C05; C16; C17; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:237900	Hyperbilirubinemia, familial transcient neonatal	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
omim:608615	Oligodontia-colorectal cancer syndrome	C04; C06; C07; C16	Neoplasms; Digestive System Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607689	Anderson disease	C06; C10; C16; C18	Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607688	Parkinson disease 11	C23	Pathological Conditions, Signs and Symptoms
omim:103500	Tietz syndrome	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:607681	Epilepsy, childhood absence, 2	C10	Nervous system Diseases
omim:607682	Epilepsy, childhood absence	C10	Nervous system Diseases
omim:609192	Loeys-Dietz syndrome, type 1A	C05; C07; C14; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:607684	Charcot-Marie-Tooth disease, type 2E	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:277460	Ataxia with isolated vitamin E deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D031845	Hajdu-Cheney Syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012421	Rupture	C21	Disorders of Environmental Origin
omim:236800	Hydroxykynureninuria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:229100	Glutamate formiminotransferase deficiency	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D008258	Waldenstrom Macroglobulinemia	C04; C14; C15; C20	Neoplasms; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases
omim:607677	Charcot-Marie-Tooth disease, type 2I	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607676	IRAK4 deficiency	C01; C20	Bacterial Infections and Mycoses; Immune System Diseases
mesh:D002636	Cherubism	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002637	Chest Pain	C23	Pathological Conditions, Signs and Symptoms
omim:607678	Charcot-Marie-Tooth disease, type 1D	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:131900	Epidermolysis bullosa simplex, Koebner type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:245340	Erythrocyte lactate transporter defect	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:611378	Macular degeneration, age-related, 9	C11	Eye Diseases
omim:611377	Brachydactyly, type B2	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:265000	Escobar syndrome	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:245349	Lacticacidemia due to PDX1 deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:245348	Pyruvate dehydrogenase E2 deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:605407	Segawa syndrome, recessive	C10; C16; C18; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012415	Rubinstein-Taybi Syndrome	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612095	Retinitis pigmentosa-41	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008269	Macular Edema	C11	Eye Diseases
omim:175900	Porokeratosis, disseminated superficial actinic, 1	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D002647	Chilblains	C21	Disorders of Environmental Origin
mesh:D008268	Macular Degeneration	C11	Eye Diseases
omim:611363	Atrial septal defect 4	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612098	Cardiomyopathy, familial hypertrophic, 11	C14	Cardiovascular Diseases
omim:235800	Histidinemia	C16; C18; F03	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
omim:277480	von Willebrand disease, autosomal recessive	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611369	Lethal congenital contractural syndrome 3	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009755	Night Blindness	C11	Eye Diseases
mesh:D044584	Carcinoma, Ductal	C04	Neoplasms
omim:607654	Keratosis palmoplantaris striata III	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:250940	Methylcobalamin deficiency, cblG type	C10; C15; C16; C17; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:607655	Skin fragility-woolly hair syndrome	C17	Skin and Connective Tissue Diseases
mesh:D002658	Developmental Disabilities	F03	Mental Disorders
mesh:D012480	Salmonella Infections	C01	Bacterial Infections and Mycoses
mesh:D012481	Salmonella Infections, Animal	C01; C22	Bacterial Infections and Mycoses; Animal Diseases
omim:227810	Fanconi-Bickel syndrome	C12; C13; C16; C18; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007715	Klippel-Trenaunay-Weber Syndrome	C14	Cardiovascular Diseases
omim:115197	Cardiomyopathy, familial hypertrophic, 4	C14	Cardiovascular Diseases
mesh:D007714	Klippel-Feil Syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007713	Klinefelter Syndrome	C12; C16; C19	Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:115196	Cardiomyopathy, familial hypertrophic, 3	C14	Cardiovascular Diseases
mesh:D014517	Ureteral Obstruction	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:115195	Cardiomyopathy, familial hypertrophic, 2	C14	Cardiovascular Diseases
mesh:D012488	Salpingitis	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D014511	Uremia	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:609796	Peeling skin syndrome, acral type	C17	Skin and Connective Tissue Diseases
omim:609148	Malaria, mild, susceptibility to	C03	Parasitic Diseases
omim:276300	Mismatch repair cancer syndrome	C04; C06; C10; C16	Neoplasms; Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:248900	Mast syndrome	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
omim:609141	Corneal dystrophy, posterior polymorphous, 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:250950	3-methylglutaconic aciduria, type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008202	Lymphangioma	C04	Neoplasms
mesh:D009081	Mucolipidoses	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008206	Lymphatic Diseases	C15	Hemic and Lymphatic Diseases
mesh:D009080	Mucocutaneous Lymph Node Syndrome	C14; C15; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases
mesh:D009083	Mucopolysaccharidoses	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D008207	Lymphatic Metastasis	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D015658	HIV Infections	C02; C20	Virus Diseases; Immune System Diseases
mesh:D010212	Papilloma	C04	Neoplasms
mesh:D009085	Mucopolysaccharidosis IV	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D008209	Lymphedema	C15	Hemic and Lymphatic Diseases
mesh:D009084	Mucopolysaccharidosis III	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D007706	Menkes Kinky Hair Syndrome	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D009087	Mucopolysaccharidosis VI	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D010214	Papillon-Lefevre Disease	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:186100	Syndactyly, type III	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016609	Neoplasms, Second Primary	C04	Neoplasms
mesh:D050031	Hashimoto Disease	C19	Endocrine System Diseases
mesh:D050030	Andersen Syndrome	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:609152	Hyperthyroidism, nonautoimmune	C19	Endocrine System Diseases
omim:607641	Neuropathy, distal hereditary motor, type VIIB	C10	Nervous system Diseases
mesh:D050033	Thyroid Dysgenesis	C16; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D008216	Lymphocytic Choriomeningitis	C02; C10	Virus Diseases; Nervous system Diseases
omim:607636	van Buchem disease, type 2	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007732	Kwashiorkor	C18	Nutritional and Metabolic Diseases
mesh:D016640	Diabetes, Gestational	C13; C18; C19	Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D015663	Osteoporosis, Postmenopausal	C05	Musculoskeletal Diseases
omim:607634	Osteopetrosis, AD type I	C05	Musculoskeletal Diseases
mesh:D018879	Ventricular Premature Complexes	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:127400	Dyschromatosis symmetrica hereditaria	C17	Skin and Connective Tissue Diseases
omim:131950	Epidermolysis bullosa simplex, Ogna type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D016649	Ovarian Failure, Premature	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:132450	Epiphyseal dysplasia, multiple, with myopia and deafness	C05; C09; C10; C11; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:609129	Auditory neuropathy, autosomal dominant, 1	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:608644	Ciliary dyskinesia, primary, 3, with or without situs inversus	C08; C09; C18	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Nutritional and Metabolic Diseases
mesh:D008218	Lymphocytosis	C15	Hemic and Lymphatic Diseases
mesh:D012468	Salivary Gland Neoplasms	C04; C07	Neoplasms; Stomatognathic Diseases
omim:608641	Deafness, autosomal dominant 28	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:608643	Aromatic L-amino acid decarboxylase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607628	Epilepsy with grand mal seizures on awakening	C10	Nervous system Diseases
omim:607625	Niemann-pick disease, type C2	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008228	Lymphoma, Non-Hodgkin	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D015673	Fatigue Syndrome, Chronic	C02; C05; C10	Virus Diseases; Musculoskeletal Diseases; Nervous system Diseases
omim:131960	Epidermolysis bullosa simplex with mottled pigmentation	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:607624	Griscelli syndrome, type 2	C10; C17	Nervous system Diseases; Skin and Connective Tissue Diseases
mesh:D008223	Lymphoma	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D018888	Aphasia, Primary Progressive	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D008224	Lymphoma, Follicular	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D016638	Critical Illness	C23	Pathological Conditions, Signs and Symptoms
mesh:D014545	Urinary Calculi	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:608637	Spondyloepiphyseal dysplasia, Omani type	C05	Musculoskeletal Diseases
mesh:D007724	Vulvar Lichen Sclerosus	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D018883	Heat Stroke	C21	Disorders of Environmental Origin
mesh:D014549	Urinary Incontinence	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:608634	Neuropathy, distal hereditary motor, type IIB	C10	Nervous system Diseases
omim:609136	PCWH	C06; C10; C16	Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D044542	LEOPARD Syndrome	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:602849	Muenke syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054740	Dendritic Cell Sarcoma, Follicular	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:270700	Spastic paraplegia 15	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004927	Escherichia coli Infections	C01	Bacterial Infections and Mycoses
omim:267300	Renal tubular acidosis with deafness	C09; C10; C12; C13; C16; C18; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004932	Esophageal and Gastric Varices	C06	Digestive System Diseases
mesh:D001176	Arthrogryposis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004935	Esophageal Diseases	C06	Digestive System Diseases
mesh:D001171	Arthritis, Juvenile Rheumatoid	C05; C17; C20	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D007627	Keloid	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001170	Arthritis, Infectious	C01; C05	Bacterial Infections and Mycoses; Musculoskeletal Diseases
mesh:D018980	Williams Syndrome	C10; C14; C16	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004933	Esophageal Atresia	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001172	Arthritis, Rheumatoid	C05; C17; C20	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D001988	Bronchiolitis	C08	Respiratory Tract Diseases
mesh:D001987	Bronchiectasis	C08	Respiratory Tract Diseases
mesh:D001982	Bronchial Diseases	C08	Respiratory Tract Diseases
omim:225400	Ehlers-Danlos syndrome, type VI	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006177	Gynecomastia	C17	Skin and Connective Tissue Diseases
omim:611783	Erythrocytosis, familial, 4	C15	Hemic and Lymphatic Diseases
omim:611431	Neurofibromatosis, type 1-like syndrome	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:166600	Osteopetrosis, autosomal dominant 2	C05	Musculoskeletal Diseases
omim:601238	Ataxia, cerebellar, Cayman type	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001989	Bronchiolitis Obliterans	C08	Respiratory Tract Diseases
mesh:D004938	Esophageal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
omim:233650	Combined cellular and humoral immune defects with granulomas	C15; C20; C23	Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:611788	Aortic aneurysm, familial thoracic 6	C14	Cardiovascular Diseases
omim:609220	Bruck syndrome 2	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001991	Bronchitis	C08	Respiratory Tract Diseases
mesh:D001990	Bronchiolitis, Viral	C02; C08	Virus Diseases; Respiratory Tract Diseases
mesh:D001165	Arteriovenous Malformations	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004941	Esophagitis	C06	Digestive System Diseases
mesh:D031901	Gestational Trophoblastic Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D004942	Esophagitis, Peptic	C06	Digestive System Diseases
mesh:D001164	Arteriovenous Fistula	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D001162	Arteriosclerosis Obliterans	C14	Cardiovascular Diseases
mesh:D007636	Keratoacanthoma	C17	Skin and Connective Tissue Diseases
mesh:D001161	Arteriosclerosis	C14	Cardiovascular Diseases
mesh:D010264	Paraplegia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007638	Keratoconjunctivitis Sicca	C11	Eye Diseases
omim:609227	Griscelli syndrome, type 3	C10; C17	Nervous system Diseases; Skin and Connective Tissue Diseases
mesh:D001997	Bronchopulmonary Dysplasia	C08; C16	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612042	Recombination rate QTL 1	NA	Unclassified
mesh:D007634	Keratitis	C11	Eye Diseases
mesh:D001169	Arthritis, Experimental	C05	Musculoskeletal Diseases
mesh:D018979	Myositis, Inclusion Body	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:225410	Ehlers-Danlos syndrome, type VIIC	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D001168	Arthritis	C05	Musculoskeletal Diseases
mesh:D001167	Arteritis	C14	Cardiovascular Diseases
omim:611771	Lipoprotein glomerulopathy	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:268300	Roberts syndrome	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612011	Celiac disease, susceptibility to, 13; celiac13	NA	Unclassified
omim:600625	Orofacial cleft 11	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612016	Spinocerebellar ataxia, autosomal recessive 9	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611775	Kawasaki disease, susceptibility to	NA	Unclassified
omim:612015	Congenital disorder of glycosylation, type In	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	C05; C10; C12; C13; C14; C23	Musculoskeletal Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D010229	Paracoccidioidomycosis	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
mesh:D046768	Nesidioblastosis	C06	Digestive System Diseases
omim:611407	Cardiomyopathy, dilated, 1W	C14	Cardiovascular Diseases
omim:611777	Brugada syndrome 2	NA	Unclassified
omim:612018	Cataract, juvenile, with microcornea and glucosuria	C11; C12; C13; C16; C18	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:260400	Shwachman-Bodian-Diamond syndrome	C06; C15; C17; C18	Digestive System Diseases; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D001195	Asbestosis	C08; C21	Respiratory Tract Diseases; Disorders of Environmental Origin
mesh:D007647	Kernicterus	C10; C15; C16; C18; C20; C23	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:300000	Opitz G syndrome, type I	C05; C06; C07; C09; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010236	Paraganglioma, Extra-Adrenal	C04	Neoplasms
mesh:D010235	Paraganglioma	C04	Neoplasms
mesh:D010237	Paragonimiasis	C03	Parasitic Diseases
omim:300009	Dent disease	C12; C13; C16; C18; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007640	Keratoconus	C11	Eye Diseases
mesh:D007644	Darier Disease	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D007645	Keratoderma, Palmoplantar	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D007642	Keratosis	C17	Skin and Connective Tissue Diseases
omim:300004	Proud syndrome	C10; C16; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:180100	Retinitis pigmentosa-1	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:180105	Retinitis pigmentosa-10	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:180104	Retinitis pigmentosa-9	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611762	Familial cold autoinflammatory syndrome 2	C16; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:276400	Ovarian response to FSH stimulation	NA	Unclassified
omim:119530	Cleft lip/palate, susceptibility to	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	C04; C06; C14; C15; C16	Neoplasms; Digestive System Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:266200	Pyruvate kinase deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609200	Myotilinopathy	C05; C10; C14; C23	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004916	Erythromelalgia	C14	Cardiovascular Diseases
mesh:D004915	Leukemia, Erythroblastic, Acute	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:601214	Naxos disease	C14; C16; C17	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:147750	IVIC syndrome	C05; C09; C10; C11; C15; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D010245	Paralyses, Familial Periodic	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D010243	Paralysis	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:112500	Brachydactyly, type A1	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300018	Dosage-sensitive sex reversal	C19; C23	Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:612020	Spastic paraplegia 39	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:611755	Leber congenital amaurosis 10	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:600649	CPT deficiency, hepatic, type II	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008286	Malabsorption Syndromes	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
omim:600648	Nevus, epidermal, epidermolytic hyperkeratotic type	C04; C16; C17	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006130	Growth Disorders	C23	Pathological Conditions, Signs and Symptoms
mesh:D001935	Branchioma	C04	Neoplasms
omim:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	C10; C17; C19; C23	Nervous system Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:605462	Basal cell carcinoma, somatic	C04	Neoplasms
omim:612076	Hypouricemia, renal, 2	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001941	Breast Diseases	C17	Skin and Connective Tissue Diseases
omim:612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	C05; C10; C12; C13; C18	Musculoskeletal Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
omim:133100	Erythrocytosis, familial	C15	Hemic and Lymphatic Diseases
mesh:D001943	Breast Neoplasms	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:612073	Mitochondrial DNA depletion syndrome, enceophalomyopathic form, with methylmalonic aciduria	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D016574	Seasonal Affective Disorder	F03	Mental Disorders
mesh:D010291	Paresis	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008288	Malaria	C03	Parasitic Diseases
omim:135300	Fibromatosis, gingival	C07; C16; C17	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D007669	Kidney Calculi	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:602771	Muscular dystrophy, rigid spine, 1	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600630	UV-sensitive syndrome	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:602772	Retinitis pigmentosa-25	C11	Eye Diseases
mesh:D008275	Magnesium Deficiency	C18	Nutritional and Metabolic Diseases
omim:611742	Skin/hair/eye pigmentation 9, dark/light hair	C17	Skin and Connective Tissue Diseases
omim:268310	Robinow syndrome, autosomal recessive	C05; C16; C19; C23	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D048909	Diabetes Complications	C19	Endocrine System Diseases
omim:605472	Usher syndrome, type IIC	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:600634	Pituitary adenoma, prolactin-secreting	C07	Stomatognathic Diseases
mesh:D016586	Granular Cell Tumor	C04	Neoplasms
mesh:D007676	Kidney Failure, Chronic	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D016585	Vaginosis, Bacterial	C01; C13	Bacterial Infections and Mycoses; Female Urogenital Diseases and Pregnancy Complications
mesh:D007675	Kidney Failure, Acute	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:605479	Cholestasis, benign recurrent intrahepatic, 2	C06	Digestive System Diseases
mesh:D016582	Leukemia, Feline	C02; C04; C22	Virus Diseases; Neoplasms; Animal Diseases
mesh:D020642	Acatalasia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D016584	Panic Disorder	F03	Mental Disorders
mesh:D007674	Kidney Diseases	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D012400	Rotavirus Infections	C02	Virus Diseases
mesh:D001913	Bowen's Disease	C04	Neoplasms
omim:119500	Popliteal pterygium syndrome	C05; C07; C12; C13; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:600669	Epilepsy, generalized idiopathic	C10	Nervous system Diseases
mesh:D007680	Kidney Neoplasms	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D001919	Bradycardia	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001157	Arterial Occlusive Diseases	C14	Cardiovascular Diseases
omim:612052	Lung cancer susceptibility 2	NA	Unclassified
mesh:D001922	Brain Abscess	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
mesh:D010279	Parathyroid Diseases	C19	Endocrine System Diseases
omim:611722	Krabbe disease, atypical	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611721	Combined SAP deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611726	Epilepsy, progressive myoclonic 3	C10	Nervous system Diseases
omim:600652	Deafness, autosomal dominant 4	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:246700	Chylomicron retention disease	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612067	Dystonia 16	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018908	Muscle Weakness	C05; C10; C23	Musculoskeletal Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:612069	Amyotrophic lateral sclerosis 10	C10	Nervous system Diseases
mesh:D001929	Brain Edema	C10	Nervous system Diseases
mesh:D007690	Polycystic Kidney Diseases	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D003409	Congenital Hypothyroidism	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D001927	Brain Diseases	C10	Nervous system Diseases
mesh:D001145	Arrhythmias, Cardiac	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018917	Optic Neuropathy, Ischemic	C10; C11; C14	Nervous system Diseases; Eye Diseases; Cardiovascular Diseases
mesh:D001932	Brain Neoplasms	C04; C10	Neoplasms; Nervous system Diseases
mesh:D003414	Crigler-Najjar Syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D010282	Parathyroid Neoplasms	C04; C19	Neoplasms; Endocrine System Diseases
mesh:D001930	Brain Injuries	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D010283	Paratuberculosis	C01; C22	Bacterial Infections and Mycoses; Animal Diseases
omim:611718	Hypomagnesemia 4, renal	C18	Nutritional and Metabolic Diseases
omim:611719	Combined oxidative phosphorylation deficiency 5	C18	Nutritional and Metabolic Diseases
mesh:D003410	Cri-du-Chat Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013966	Thyroiditis	C19	Endocrine System Diseases
mesh:D013967	Thyroiditis, Autoimmune	C19; C20	Endocrine System Diseases; Immune System Diseases
omim:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	C09; C10; C12; C13; C19; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D013964	Thyroid Neoplasms	C04; C19	Neoplasms; Endocrine System Diseases
omim:204000	Leber congenital amaurosis 1	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300069	Cardiomyopathy, dilated, 3A	C14	Cardiovascular Diseases
omim:604379	Hypotrichosis, total, Mari type	C17	Skin and Connective Tissue Diseases
mesh:D003424	Crohn Disease	C06	Digestive System Diseases
omim:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	C14	Cardiovascular Diseases
omim:209950	BCG and salmonella infection, disseminated	C01; C20	Bacterial Infections and Mycoses; Immune System Diseases
mesh:D018901	Peroxisomal Disorders	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D018902	Chondrodysplasia Punctata, Rhizomelic	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:604370	Adenocarcinoma, ovarian, somatic	C04; C13; C17; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
omim:259100	Cranioosteoarthropathy	C05	Musculoskeletal Diseases
mesh:D013959	Thyroid Diseases	C19	Endocrine System Diseases
omim:415000	Azoospermia	C12	Male Urogenital Diseases
mesh:D013971	Thyrotoxicosis	C19	Endocrine System Diseases
omim:123700	Cutis laxa, AD	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006106	Granulosa Cell Tumor	C04; C13; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:191390	Ulcerative colitis, susceptibility to	C06	Digestive System Diseases
omim:604387	Nephronophthisis, adolescent	C06; C11; C12; C13; C16	Digestive System Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017674	Hypophosphatemia	C18	Nutritional and Metabolic Diseases
mesh:D006105	Granulomatous Disease, Chronic	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D017676	Lichen Planus, Oral	C07; C17	Stomatognathic Diseases; Skin and Connective Tissue Diseases
mesh:D006101	Granuloma, Giant Cell	C05; C07; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Pathological Conditions, Signs and Symptoms
omim:266265	Congenital disorder of glycosylation, type IIc	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:165550	Optic nerve hypoplasia	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D055036	Campomelic Dysplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001907	Boutonneuse Fever	C01	Bacterial Infections and Mycoses
omim:611705	Myopathy, early-onset, with fatal cardiomyopathy	C05; C10; C14	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases
omim:300071	Night blindness, congenital stationary, X-linked, type 2A	C11	Eye Diseases
mesh:D055031	Primary Graft Dysfunction	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:300087	X-inactivation, familial skewed	NA	Unclassified
mesh:D013945	Thymoma	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:300088	Epilepsy, female-restricted, with mental retardation	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D017689	Polydactyly	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:601283	Diabetes mellitus, noninsulin-dependent 1	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D003449	Cryoglobulinemia	C14; C15; C20	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D006111	Graves Disease	C11; C19; C20	Eye Diseases; Endocrine System Diseases; Immune System Diseases
mesh:D017682	Myocardial Stunning	C14	Cardiovascular Diseases
mesh:D017681	Hypereosinophilic Syndrome	C15	Hemic and Lymphatic Diseases
omim:604356	Duane retraction syndrome 2	C23	Pathological Conditions, Signs and Symptoms
omim:310700	Nystagmus 1, congenital, X-linked	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604352	Convulsions, familial febrile, 4	C10	Nervous system Diseases
omim:250250	Cartilage-hair hypoplasia	C05	Musculoskeletal Diseases
mesh:D055008	Anthracosis	C08	Respiratory Tract Diseases
omim:217090	Conjunctivitis, ligneous	C11	Eye Diseases
omim:219100	Cutis laxa, autosomal recessive	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:601286	Cataract, nonnuclear polymorphic congenital	C11	Eye Diseases
omim:601285	Deleted in split-hand/split-foot 1 region	NA	Unclassified
omim:601287	Muscular dystrophy, limb-girdle, type 2F	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003453	Cryptococcosis	C01	Bacterial Infections and Mycoses
mesh:D013953	Thymus Neoplasms	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:228960	High molecular weight kininogen deficiency	C15	Hemic and Lymphatic Diseases
mesh:D013166	Spondylitis	C01; C05	Bacterial Infections and Mycoses; Musculoskeletal Diseases
mesh:D013167	Spondylitis, Ankylosing	C05	Musculoskeletal Diseases
mesh:D003457	Cryptosporidiosis	C03; C06; C22	Parasitic Diseases; Digestive System Diseases; Animal Diseases
mesh:D017696	Myopathies, Nemaline	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D017699	Pelvic Pain	C23	Pathological Conditions, Signs and Symptoms
mesh:D003456	Cryptorchidism	C12; C16; C19	Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D013163	Splenomegaly	C23	Pathological Conditions, Signs and Symptoms
omim:266280	RAPADILINO syndrome	C05; C07; C16; C21; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disorders of Environmental Origin; Pathological Conditions, Signs and Symptoms
mesh:D055013	Osteoarthritis, Spine	C05	Musculoskeletal Diseases
omim:604360	Spastic paraplegia-11	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:162100	Amyotrophy, hereditary neuralgic	C10	Nervous system Diseases
omim:259900	Hyperoxaluria, primary, type 1	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:217080	Jalili syndrome	C07; C11; C16	Stomatognathic Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:308930	Leigh syndrome, X-linked	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D051556	Hyperbilirubinemia, Neonatal	C16; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D055847	Lynch Syndrome II	C04; C16	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300029	Retinitis pigmentosa-3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:228930	Fuhrmann syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013923	Thromboembolism	C14	Cardiovascular Diseases
mesh:D013119	Spinal Cord Injuries	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D013922	Thrombocytosis	C15	Hemic and Lymphatic Diseases
mesh:D013921	Thrombocytopenia	C15	Hemic and Lymphatic Diseases
mesh:D013118	Spinal Cord Diseases	C10	Nervous system Diseases
mesh:D013117	Spinal Cord Compression	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D013920	Thrombocythemia, Essential	C15	Hemic and Lymphatic Diseases
mesh:D013915	Thrombasthenia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013919	Thromboangiitis Obliterans	C14	Cardiovascular Diseases
omim:156550	Kniest dysplasia	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D013103	Spherocytosis, Hereditary	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013106	Sphingolipidoses	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:146200	Hypocalcemia, autosomal dominant	C19	Endocrine System Diseases
mesh:D013924	Thrombophlebitis	C14	Cardiovascular Diseases
mesh:D013927	Thrombosis	C14	Cardiovascular Diseases
omim:233690	Chronic granulomatous disease, autosomal, due to deficiency of CYBA	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:601277	Ichthyosis, lamellar 2	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612004	Thrombocytopenia 4	C15	Hemic and Lymphatic Diseases
mesh:D000419	Albuminuria	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D013132	Spinocerebellar Degenerations	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005494	Folic Acid Deficiency	C18	Nutritional and Metabolic Diseases
mesh:D003480	Cushing Syndrome	C19	Endocrine System Diseases
mesh:D003483	Cutis Laxa	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:604393	Leber congenital amaurosis 4	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:604391	Ataxia-telangiectasia-like disorder	C10; C14; C16; C18; C20	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D008708	Methemoglobinemia	C15	Hemic and Lymphatic Diseases
mesh:D005489	Focal Dermal Hypoplasia	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:110450	Blood group, Colton	C15	Hemic and Lymphatic Diseases
mesh:D053713	Azoospermia	C12	Male Urogenital Diseases
mesh:D005483	Flushing	C23	Pathological Conditions, Signs and Symptoms
mesh:D000402	Airway Obstruction	C08	Respiratory Tract Diseases
omim:300055	Mental retardation, X-linked, syndromic 13	C10; C12; C13; C16; F03	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
omim:211600	Cholestasis, progressive familial intrahepatic 1	C06	Digestive System Diseases
mesh:D019150	Neuroaxonal Dystrophies	C10	Nervous system Diseases
omim:603358	GRACILE syndrome	C06; C13; C16; C18; C23	Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:264070	Hyperphenylalaninemia, BH4-deficient, D	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:182212	Shprintzen-Goldberg syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610992	Phosphoserine aminotransferase deficiency	C05; C10; C16; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000567	Amelogenesis Imperfecta	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000568	Amenorrhea	C23	Pathological Conditions, Signs and Symptoms
mesh:D009190	Myelodysplastic Syndromes	C15	Hemic and Lymphatic Diseases
mesh:D016720	Pneumocystis Infections	C01	Bacterial Infections and Mycoses
mesh:D000564	Ameloblastoma	C04	Neoplasms
omim:131760	Epidermolysis bullosa simplex, Dowling-Meara type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D009196	Myeloproliferative Disorders	C15	Hemic and Lymphatic Diseases
mesh:D003294	Seizures, Febrile	C10	Nervous system Diseases
mesh:D014456	Ulcer	C23	Pathological Conditions, Signs and Symptoms
mesh:D005600	Fragile X Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:248250	Hypomagnesemia, primary	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
mesh:D019066	Facies	C23	Pathological Conditions, Signs and Symptoms
omim:174500	Polydactyly, preaxial type II	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D052245	Usher Syndromes	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D053529	Leukokeratosis, Hereditary Mucosal	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:131750	Epidermolysis bullosa dystrophica, AD	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:224410	Dyssegmental dysplasia, Silverman-Handmaker type	C05; C10; C16; C19	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:201450	Acyl-CoA dehydrogenase, medium chain, deficiency of	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000550	Amblyopia	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016715	Proteus Syndrome	C04; C05; C16	Neoplasms; Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D019851	Thrombophilia	C15	Hemic and Lymphatic Diseases
omim:608799	Congenital disorder of glycosylation, type Ie	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015518	Rett Syndrome	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D003286	Contracture	C05	Musculoskeletal Diseases
mesh:D009182	Mycosis Fungoides	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D019052	Depression, Postpartum	C13; F03	Female Urogenital Diseases and Pregnancy Complications; Mental Disorders
omim:141500	Hemiplegic migraine, familial	C10	Nervous system Diseases
mesh:D011081	Polychondritis, Relapsing	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D005621	Friedreich Ataxia	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D011085	Polycystic Ovary Syndrome	C04; C13; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D028243	Cerebral Amyloid Angiopathy, Familial	C10; C14; C16; C18	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D011086	Polycythemia	C15	Hemic and Lymphatic Diseases
mesh:D011087	Polycythemia Vera	C15	Hemic and Lymphatic Diseases
omim:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	C12; C13; C18; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:603373	Hyperthyroidism, familial gestational	C19	Endocrine System Diseases
omim:201460	Acyl-CoA dehydrogenase, long chain, deficiency of	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009175	Mycoplasma Infections	C01	Bacterial Infections and Mycoses
mesh:D014435	Typhoid Fever	C01	Bacterial Infections and Mycoses
mesh:D016706	Still's Disease, Adult-Onset	C05; C17; C20	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D019043	Vascular Neoplasms	C04; C14	Neoplasms; Cardiovascular Diseases
mesh:D050197	Atherosclerosis	C14	Cardiovascular Diseases
omim:606437	Myokymia with neonatal epilepsy	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:606438	Huntington disease-like 2	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D019048	Prostatic Intraepithelial Neoplasia	C04	Neoplasms
mesh:D019871	Dyskeratosis Congenita	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:201470	Acyl-CoA dehydrogenase, short-chain, deficiency of	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D017824	Bone Cysts, Aneurysmal	C04; C05	Neoplasms; Musculoskeletal Diseases
mesh:D005633	Fructose Intolerance	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009165	Mycobacterium Infections, Atypical	C01	Bacterial Infections and Mycoses
mesh:D017825	Canavan Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009164	Mycobacterium Infections	C01	Bacterial Infections and Mycoses
omim:201475	VLCAD deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D017827	Machado-Joseph Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607598	Lethal congenital contractural syndrome 2	C05; C10; C11; C12; C13; C16; C21; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disorders of Environmental Origin; Pathological Conditions, Signs and Symptoms
mesh:D053565	Hypercalciuria	C23	Pathological Conditions, Signs and Symptoms
omim:607595	Brain small vessel disease with Axenfeld-Rieger anomaly	C10; C14; C23	Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:607594	ICOS deficiency	C20	Immune System Diseases
mesh:D053560	Ichthyosis Bullosa of Siemens	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D009669	Nose Neoplasms	C04; C05; C08; C09	Neoplasms; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D009157	Myasthenia Gravis	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D008531	Megacolon	C06	Digestive System Diseases
omim:609814	Complement factor H deficiency	C20	Immune System Diseases
mesh:D028227	Amyloid Neuropathies, Familial	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005645	Fucosidosis	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609812	Maturity-onset diabetes of the young, type VIII	C06; C18; C19	Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:609813	Spondylocostal dysostosis, autosomal recessive 3	C05	Musculoskeletal Diseases
mesh:D053559	Corneal Dystrophy, Juvenile Epithelial of Meesmann	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D028226	Amyloidosis, Familial	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:125350	Failure of tooth eruption, primary	C07	Stomatognathic Diseases
omim:142680	Periodic fever, familial	C20; C23	Immune System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008546	Melanoma, Experimental	C04	Neoplasms
mesh:D008545	Melanoma	C04	Neoplasms
mesh:D011842	Radicular Cyst	C04; C05; C07	Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
mesh:D019896	alpha 1-Antitrypsin Deficiency	C17	Skin and Connective Tissue Diseases
mesh:D000592	Amino Acid Metabolism, Inborn Errors	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D017887	Ossification of Posterior Longitudinal Ligament	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
mesh:D017889	Exfoliation Syndrome	C11	Eye Diseases
omim:193530	Weyers acrodental dysostosis	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:238970	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	C10; C16; C18; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D013180	Sprains and Strains	C21	Disorders of Environmental Origin
omim:265100	Pulmonary alveolar microlithiasis	C08; C23	Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
omim:193510	Waardenburg syndrome, type IIA	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606482	Charcot-Marie-Tooth disease, dominant intermediate B	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009134	Muscular Atrophy, Spinal	C10	Nervous system Diseases
mesh:D009135	Muscular Diseases	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D009136	Muscular Dystrophies	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009139	Musculoskeletal Abnormalities	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:203290	Albinism, brown	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:134610	Familial Mediterranean fever, AD	C16; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:236700	McKusick-Kaufman syndrome	C05; C13; C14; C16	Musculoskeletal Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009133	Muscular Atrophy	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:604229	Peters anomaly	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005660	Funnel Chest	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011041	Poisoning	C21	Disorders of Environmental Origin
mesh:D054685	Lymphoma, Primary Effusion	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:193500	Waardenburg syndrome, type I	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:256100	Nephronophthisis, juvenile	C12; C13; C15; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008527	Medulloblastoma	C04	Neoplasms
mesh:D019080	Cafe-au-Lait Spots	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009123	Muscle Hypotonia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D019082	Smith-Lemli-Opitz Syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609820	Erythrocytosis, familial, 3	C15	Hemic and Lymphatic Diseases
omim:308940	Leiomyomatosis, diffuse, with Alport syndrome	C04; C06; C12; C13	Neoplasms; Digestive System Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D009128	Muscle Spasticity	C05; C10; C23	Musculoskeletal Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:609823	Deafness, autosomal recessive 28	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:609821	Bleeding disorder due to P2RY12 defect	C23	Pathological Conditions, Signs and Symptoms
omim:182290	Smith-Magenis syndrome	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:604219	Cataract with late-onset corneal dystrophy	C11	Eye Diseases
mesh:D009120	Muscle Cramp	C05; C10; C23	Musculoskeletal Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011051	Poliomyelitis	C02; C10	Virus Diseases; Nervous system Diseases
omim:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D053549	Pachyonychia Congenita	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D011020	Pneumonia, Pneumocystis	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
omim:611490	Osteopetrosis, autosomal recessive 4	C05	Musculoskeletal Diseases
omim:106260	Hay-Wells syndrome	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008133	Long QT Syndrome	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D018798	Anemia, Iron-Deficiency	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:608728	Spondyloepimetaphyseal dysplasia	C05	Musculoskeletal Diseases
omim:214950	Bile acid synthesis defect, congenital, 4	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610905	Aicardi-goutieres syndrome 5	C10; C15; C16; C17; C18; C20	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D018792	Encephalitis, Viral	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D008579	Meningioma	C04; C10	Neoplasms; Nervous system Diseases
omim:265120	Surfactant metabolism dysfunction, pulmonary, 1	C08; C18	Respiratory Tract Diseases; Nutritional and Metabolic Diseases
omim:609048	Melanoma	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:609049	Nephrosis, congenital, with or without ocular abnormalities	C10; C11; C12; C13; C23	Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D008575	Meniere Disease	C09	Otorhinolaryngologic Diseases
omim:610913	Surfactant metabolism dysfunction, pulmonary, 2	C08	Respiratory Tract Diseases
omim:177000	Protoporphyria, erythropoietic, autosomal dominant	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611493	Atrial fibrillation, familial, 4	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:607554	Atrial fibrillation, familial, 3	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:611497	Osteopetrosis, autosomal recessive 6	C05	Musculoskeletal Diseases
omim:611498	Nephronophthisis 7	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D011030	Pneumothorax	C08	Respiratory Tract Diseases
omim:127550	Dyskeratosis congenita	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D002764	Cholecystitis	C06	Digestive System Diseases
omim:275900	Troyer syndrome	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D015593	Retinal Drusen	C11	Eye Diseases
omim:148350	Keratoderma, palmoplantar, with deafness	C09; C10; C16; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:223360	Dopamine beta-hydroxylase deficiency	C10; C18	Nervous system Diseases; Nutritional and Metabolic Diseases
mesh:D002769	Cholelithiasis	C06	Digestive System Diseases
mesh:D008581	Meningitis	C10	Nervous system Diseases
omim:608716	Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011038	Rothmund-Thomson Syndrome	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:610915	Osteogenesis imperfecta, type VIII	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:117550	Sotos syndrome	C05; C16; C19; C23	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007806	Language Disorders	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002761	Cholangitis	C06	Digestive System Diseases
omim:118600	Chondrocalcinosis 2	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D008589	Meningococcal Infections	C01	Bacterial Infections and Mycoses
mesh:D009634	Noonan Syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:610921	Surfactant metabolism dysfunction, pulmonary, 3	C08; C16	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609056	Amish infantile epilepsy syndrome	C10	Nervous system Diseases
omim:600462	Mitochondrial myopathy and sideroblastic anemia	C05; C10; C15; C18	Musculoskeletal Diseases; Nervous system Diseases; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:609057	Nephropathy with pretibial epidermolysis bullosa and deafness	C09; C10; C12; C13; C16; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008585	Meningitis, Meningococcal	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
mesh:D008586	Meningitis, Pneumococcal	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
omim:609054	Fanconi anemia, complementation group J	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D008587	Meningitis, Viral	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D011928	Raynaud Disease	C14	Cardiovascular Diseases
omim:607541	Corneal dystrophy, Avellino type	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:270685	Silver spastic paraplegia syndrome	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:611488	Macular degeneration, age-related, 10	C11	Eye Diseases
omim:611489	Corticosteroid-binding globulin deficiency	NA	Unclassified
mesh:D012562	Schizophrenia, Disorganized	F03	Mental Disorders
mesh:D053579	Gitelman Syndrome	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D008114	Liver Neoplasms, Experimental	C04; C06	Neoplasms; Digestive System Diseases
mesh:D008113	Liver Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D012560	Schizophrenia, Catatonic	F03	Mental Disorders
omim:605316	Deafness, autosomal recessive 10, congenital	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016780	Malaria, Vivax	C03	Parasitic Diseases
omim:229200	Brittle cornea syndrome	C11	Eye Diseases
mesh:D010300	Parkinson Disease	C10	Nervous system Diseases
omim:608747	Growth retardation with deafness and mental retardation due to IGF1 deficiency	C09; C10; C16; C23; F03	Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:206100	Anemia, hypochromic microcytic	C15	Hemic and Lymphatic Diseases
mesh:D011008	Pneumococcal Infections	C01	Bacterial Infections and Mycoses
mesh:D012563	Schizophrenia, Paranoid	F03	Mental Disorders
omim:610927	Systemic lupus erythematosus, susceptibility to, 9	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D008554	Melioidosis	C01	Bacterial Infections and Mycoses
omim:254600	Myeloperoxidase deficiency	C15; C16; C18; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D008557	Melorheostosis	C05	Musculoskeletal Diseases
omim:609069	Diabetes mellitus, permanent neonatal, with cerebellar agenesis	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:277590	Weaver syndrome	C05; C07; C16; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D008556	Melkersson-Rosenthal Syndrome	C07; C10	Stomatognathic Diseases; Nervous system Diseases
omim:135290	Desmoid disease, hereditary	C04; C05	Neoplasms; Musculoskeletal Diseases
omim:609060	Combined oxidative phosphorylation deficiency 1	C18	Nutritional and Metabolic Diseases
omim:607572	Leprosy, susceptibility to	C01; C20	Bacterial Infections and Mycoses; Immune System Diseases
mesh:D021441	Carcinoma, Pancreatic Ductal	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
mesh:D015576	Hyperostosis	C05	Musculoskeletal Diseases
mesh:D016773	Leishmaniasis, Cutaneous	C03; C17	Parasitic Diseases; Skin and Connective Tissue Diseases
mesh:D004108	Dilatation, Pathologic	C23	Pathological Conditions, Signs and Symptoms
mesh:D016778	Malaria, Falciparum	C03	Parasitic Diseases
mesh:D012559	Schizophrenia	F03	Mental Disorders
mesh:D011014	Pneumonia	C08	Respiratory Tract Diseases
mesh:D016779	Malaria, Cerebral	C03; C10	Parasitic Diseases; Nervous system Diseases
mesh:D012553	Schistosomiasis haematobia	C01; C03; C12; C13	Bacterial Infections and Mycoses; Parasitic Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:605309	Macrocephaly/autism syndrome	C05; C16; F03	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D012552	Schistosomiasis	C03	Parasitic Diseases
omim:610938	Coronary heart disease, susceptibility to, 7	C23	Pathological Conditions, Signs and Symptoms
mesh:D011018	Pneumonia, Pneumococcal	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
mesh:D012555	Schistosomiasis mansoni	C03	Parasitic Diseases
mesh:D012554	Schistosomiasis japonica	C03	Parasitic Diseases
mesh:D011009	Pneumoconiosis	C08; C21	Respiratory Tract Diseases; Disorders of Environmental Origin
omim:610947	Coronary artery disease, autosomal dominant, 2	C14	Cardiovascular Diseases
omim:277580	Shah-Waardenburg syndrome	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011818	Rabies	C02	Virus Diseases
mesh:D012585	Sciatica	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018754	Ventricular Dysfunction	C14	Cardiovascular Diseases
mesh:D016767	Caroli Disease	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608768	Spinocerebellar ataxia 8	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010322	Parvoviridae Infections	C02	Virus Diseases
mesh:D007855	Lead Poisoning	C21	Disorders of Environmental Origin
mesh:D002796	Choline Deficiency	C18	Nutritional and Metabolic Diseases
mesh:D020820	Dyskinesias	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:611452	Hypotrichosis, localized, autosomal recessive, 3	C17	Skin and Connective Tissue Diseases
omim:250850	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:611561	Meckel syndrome, type 5	C05; C06; C10; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020817	Asperger Syndrome	F03	Mental Disorders
omim:611560	Joubert syndrome 7	C08; C10; C11; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610954	Pitt-Hopkins syndrome	C07; C08; C10; C16; C23; F03	Stomatognathic Diseases; Respiratory Tract Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:609006	Deafness, autosomal recessive 36	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:610951	Ceroid lipofuscinosis, neuronal, 7	NA	Unclassified
omim:600496	MODY, type III	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D014424	Turner Syndrome	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:608758	Cardiomyopathy, familial hypertrophic, 10	C14	Cardiovascular Diseases
omim:609887	Glaucoma 1, open angle, G	C11	Eye Diseases
mesh:D008108	Liver Diseases, Alcoholic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
mesh:D008109	Liver Diseases, Parasitic	C03; C06	Parasitic Diseases; Digestive System Diseases
mesh:D018761	Multiple Endocrine Neoplasia Type 1	C04; C16; C19	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D016757	Death, Sudden, Cardiac	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:609889	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity	C02; C16; C18; C20	Virus Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D008104	Liver Cirrhosis, Alcoholic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
mesh:D016751	Hepatitis E	C02; C06	Virus Diseases; Digestive System Diseases
mesh:D016750	Stiff-Person Syndrome	C10; C20	Nervous system Diseases; Immune System Diseases
omim:607507	Psoriatic arthritis, susceptibility to	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D008105	Liver Cirrhosis, Biliary	C06	Digestive System Diseases
mesh:D008106	Liver Cirrhosis, Experimental	C06	Digestive System Diseases
mesh:D008107	Liver Diseases	C06	Digestive System Diseases
omim:123790	Beare-Stevenson cutis gyrata syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D008103	Liver Cirrhosis	C06	Digestive System Diseases
omim:131705	Transient bullous of the newborn	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D020803	Encephalitis, Herpes Simplex	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D050171	Dyslipidemias	C18	Nutritional and Metabolic Diseases
omim:609016	Fatty liver, acute, of pregnancy	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609015	Trifunctional protein deficiency	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609886	Glomerulocystic kidney disease with hyperuricemia and isosthenuria	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D010309	Parotitis	C07	Stomatognathic Diseases
omim:608751	Cardiomyopathy, familial hypertrophic, 8	C14	Cardiovascular Diseases
omim:610965	XFE progeroid syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D010307	Parotid Neoplasms	C04; C07	Neoplasms; Stomatognathic Diseases
omim:186000	Synpolydactyly with foot anomalies	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602722	Renal tubular acidosis, distal, autosomal recessive	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015529	Choledochal Cyst	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007835	Lassa Fever	C02	Virus Diseases
mesh:D002771	Cholera	C01	Bacterial Infections and Mycoses
mesh:D015526	AIDS Dementia Complex	C02; C10; C20; F03	Virus Diseases; Nervous system Diseases; Immune System Diseases; Mental Disorders
mesh:D008591	Meningomyelocele	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018778	Hantavirus Infections	C02	Virus Diseases
mesh:D002779	Cholestasis	C06	Digestive System Diseases
omim:116920	Leukocyte adhesion deficiency	C01; C15; C20; C21	Bacterial Infections and Mycoses; Hemic and Lymphatic Diseases; Immune System Diseases; Disorders of Environmental Origin
omim:611584	Waardenburg syndrome, type IIE	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D052256	Tendinopathy	C05; C21	Musculoskeletal Diseases; Disorders of Environmental Origin
omim:611588	Muscular dystrophy, limb-girdle, type 2M	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa	C12	Male Urogenital Diseases
mesh:D008595	Menorrhagia	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:608782	Pyruvate dehydrogenase phosphatase deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	C05; C08; C10; C16; C19; C23	Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:608779	Congenital disorder of glycosylation, type IIe	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007822	Laryngeal Neoplasms	C04; C08; C09	Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D002781	Cholesteatoma	C17	Skin and Connective Tissue Diseases
omim:608776	Congenital disorder of glycosylation, type Il	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002780	Cholestasis, Intrahepatic	C06	Digestive System Diseases
mesh:D007827	Laryngitis	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
omim:122200	Corneal dystrophy, lattice type I	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014402	Tuberous Sclerosis	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016736	Antiphospholipid Syndrome	C20	Immune System Diseases
mesh:D012598	Sclerosis	C23	Pathological Conditions, Signs and Symptoms
omim:203200	Albinism, brown oculocutaneous	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D010335	Pathologic Processes	C23	Pathological Conditions, Signs and Symptoms
mesh:D016738	Alagille Syndrome	C06; C14; C16	Digestive System Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015535	Arthritis, Psoriatic	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D012594	Scleroderma, Localized	C17	Skin and Connective Tissue Diseases
omim:237310	N-acetylglutamate synthase deficiency	C10; C16; C18; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:607523	Toenail dystrophy, isolated	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012595	Scleroderma, Systemic	C17	Skin and Connective Tissue Diseases
omim:611590	Renal tubular acidosis, distal, AR	C12; C13; C15; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:206900	Microphthalmia, syndromic 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611465	Gallbladder disease 4	C06	Digestive System Diseases
omim:611597	Cataract, autosomal dominant, multiple types 1	C11	Eye Diseases
omim:610988	Leprosy, susceptibility to, 4	C01	Bacterial Infections and Mycoses
omim:248200	Fundus flavimaculatus	C11	Eye Diseases
omim:611528	Arrhythmogenic right ventricular dysplasia, familial, 12	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611523	Pontocerebellar hypoplasia, type 6	C10	Nervous system Diseases
omim:600501	ABCD syndrome	C06; C09; C10; C11; C16; C17; C18; C23	Digestive System Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D046110	Hypertension, Pregnancy-Induced	C13; C14	Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
omim:611521	Protein-tyrosine kinase 2 deficiency	C15; C20; C23	Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:605362	Cardiomyopathy, dilated, 1J	C14	Cardiovascular Diseases
omim:612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency	C16; C17; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
omim:612138	Epidermolysis bullosa simplex with pyloric atresia	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:605361	Spinocerebellar ataxia 14	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:132400	Epiphyseal dysplasia, multiple 1	C05	Musculoskeletal Diseases
mesh:D013217	Starvation	C18	Nutritional and Metabolic Diseases
omim:232220	Glycogen storage disease Ib	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:605373	Paragangliomas, familial nonchromaffin, 3	C04	Neoplasms
omim:605375	Epilepsy, nocturnal frontal lobe, 3	C10	Nervous system Diseases
omim:166700	Buschke-Ollendorff syndrome	C04; C05; C17	Neoplasms; Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:605376	Heterotaxy, visceral, 2, autosomal	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020734	Parkinsonian Disorders	C10	Nervous system Diseases
omim:113750	Skin/hair/eye pigmentation 4, fair/dark skin	C17	Skin and Connective Tissue Diseases
omim:177900	Psoraisis, susceptibility to	C17	Skin and Connective Tissue Diseases
omim:260540	Supranuclear palsy, progressive atypical	C10; F03	Nervous system Diseases; Mental Disorders
omim:313400	Spondyloepiphyseal dysplasia tarda	C05	Musculoskeletal Diseases
mesh:D004802	Eosinophilia	C15	Hemic and Lymphatic Diseases
mesh:D013206	Staphylococcal Scalded Skin Syndrome	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
mesh:D013203	Staphylococcal Infections	C01	Bacterial Infections and Mycoses
omim:611547	Stature quantitative trait locus 9	NA	Unclassified
omim:611548	Premature ovarian failure 5	NA	Unclassified
mesh:D004806	Ependymoma	C04	Neoplasms
omim:612158	Cardiomyopathy, dilated, 1AA	C14	Cardiovascular Diseases
omim:605387	Cataract, posterior polar, 3	C11	Eye Diseases
mesh:D004062	DiGeorge Syndrome	C16; C19; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Immune System Diseases
omim:611544	Cataract, congenital nuclear, autosomal recessive 3	C11	Eye Diseases
omim:602629	Dystonia 6, torsion	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:605389	Hypotrichosis simplex, contiguous gene syndrome with	C17	Skin and Connective Tissue Diseases
omim:217800	Macular corneal dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004067	Digestive System Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
omim:214450	Griscelli syndrome, type 1	C10; C17	Nervous system Diseases; Skin and Connective Tissue Diseases
mesh:D004814	Epidermal Cyst	C04	Neoplasms
omim:611556	Glycogen storage disease 0, muscle	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D004816	Epidermal Necrolysis, Toxic	C17; C20; C21	Skin and Connective Tissue Diseases; Immune System Diseases; Disorders of Environmental Origin
omim:232240	Glycogen storage disease Ic	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D004819	Epidermodysplasia Verruciformis	C02; C04; C17	Virus Diseases; Neoplasms; Skin and Connective Tissue Diseases
omim:601110	Congenital disorder of glycosylation, type Id	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:230000	Fucosidosis	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611664	Skin/hair/eye pigmentation 7, blond/brown hair	C17	Skin and Connective Tissue Diseases
omim:611553	Noonan syndrome 5	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612164	Epileptic encephalopathy, early infantile, 4	C10	Nervous system Diseases
mesh:D008193	Lyme Disease	C01	Bacterial Infections and Mycoses
omim:611554	LEOPARD syndrome 2	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612160	Histiocytoma, angiomatoid fibrous, somatic	C04	Neoplasms
mesh:D007752	Obstetric Labor, Premature	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D010381	Pelger-Huet Anomaly	C15	Hemic and Lymphatic Diseases
mesh:D008199	Lymphadenitis	C15	Hemic and Lymphatic Diseases
mesh:D001289	Attention Deficit Disorder with Hyperactivity	F03	Mental Disorders
mesh:D018856	Cystitis, Interstitial	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D004820	Epidermolysis Bullosa	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D001284	Atrophy	C23	Pathological Conditions, Signs and Symptoms
mesh:D001281	Atrial Fibrillation	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008181	Lupus Nephritis	C12; C13; C17; C20	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D008180	Lupus Erythematosus, Systemic	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
omim:233700	Chronic granulomatous disease due to deficiency of NCF-1	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:155601	Melanoma, cutaneous malignant, 2	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:611618	Arthropathy, tendinous calcinosis, and progeroid features	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D004829	Epilepsy, Generalized	C10	Nervous system Diseases
mesh:D004827	Epilepsy	C10	Nervous system Diseases
mesh:D004828	Epilepsies, Partial	C10	Nervous system Diseases
omim:611615	Cardiomyopathy, dilated, 1X	C14	Cardiovascular Diseases
omim:210600	Seckel syndrome 1	C05; C10; C16; C19; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:129600	Ectopia lentis, familial	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004833	Epilepsy, Temporal Lobe	C10	Nervous system Diseases
mesh:D004832	Epilepsy, Absence	C10	Nervous system Diseases
mesh:D004831	Epilepsies, Myoclonic	C10	Nervous system Diseases
mesh:D004830	Epilepsy, Tonic-Clonic	C10	Nervous system Diseases
mesh:D010390	Pemphigoid, Benign Mucous Membrane	C17	Skin and Connective Tissue Diseases
mesh:D020774	Pick Disease of the Brain	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D020773	Headache Disorders	C10	Nervous system Diseases
mesh:D010391	Pemphigoid, Bullous	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D010392	Pemphigus	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D018805	Sepsis	C01; C23	Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms
omim:239510	Hyperprolinemia, type II	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D040921	Stress Disorders, Traumatic	F03	Mental Disorders
omim:136880	Fundus albipunctatus	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008172	Lung Diseases, Fungal	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
omim:243000	Insensitivity to pain, channelopathy-associated	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008171	Lung Diseases	C08	Respiratory Tract Diseases
omim:233710	Chronic granulomatous disease due to deficiency of NCF-2	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D008173	Lung Diseases, Obstructive	C08	Respiratory Tract Diseases
mesh:D008175	Lung Neoplasms	C04; C08	Neoplasms; Respiratory Tract Diseases
omim:611603	Lissencephaly 3	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:214400	Charcot-Marie-Tooth disease, type 4A	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001260	Ataxia Telangiectasia	C10; C14; C16; C18; C20	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
omim:229300	Friedreich ataxia with retained reflexes	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:206200	Iron-refractory iron deficiency anemia	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:103470	Waardenburg syndrome/albinism, digenic	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D020785	Central Nervous System Vascular Malformations	C10; C14; C16	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008178	Lupus Erythematosus, Cutaneous	C17	Skin and Connective Tissue Diseases
omim:148300	Keratoconus	C11	Eye Diseases
mesh:D020786	Hemangioma, Cavernous, Central Nervous System	C04; C10; C14; C15; C16	Neoplasms; Nervous system Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:239500	Hyperprolinemia, type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D044483	Intestinal Polyposis	C06	Digestive System Diseases
mesh:D006250	Hartnup Disease	C10; C12; C13; C16; C18	Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015490	HTLV-I Infections	C02; C20	Virus Diseases; Immune System Diseases
mesh:D012507	Sarcoidosis	C15	Hemic and Lymphatic Diseases
omim:611638	Microphthalmia, isolated, with coloboma 5	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012509	Sarcoma	C04	Neoplasms
mesh:D001254	Astrocytoma	C04	Neoplasms
mesh:D012514	Sarcoma, Kaposi	C02; C04	Virus Diseases; Neoplasms
mesh:D012512	Sarcoma, Ewing's	C04	Neoplasms
mesh:D018827	Carcinoma, Lewis Lung	C04	Neoplasms
mesh:D001259	Ataxia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007787	Lactose Intolerance	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015493	Paraparesis, Tropical Spastic	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D006258	Head and Neck Neoplasms	C04	Neoplasms
mesh:D006259	Craniocerebral Trauma	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D020754	Spinocerebellar Ataxias	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020752	Neurocutaneous Syndromes	C10; C16; C17	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006255	Rhinitis, Allergic, Seasonal	C08; C09; C20	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Immune System Diseases
mesh:D006261	Headache	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600513	Epilepsy, nocturnal frontal lobe, 1	C10	Nervous system Diseases
omim:600512	Epilepsy, partial, with auditory features	C10	Nervous system Diseases
mesh:D012516	Osteosarcoma	C04	Neoplasms
omim:112600	Brachydactyly, type A2	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:111400	Blood group, P system	C15	Hemic and Lymphatic Diseases
omim:605355	Nemaline myopathy, Amish type	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D020760	Spinal Cord Ischemia	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D001249	Asthma	C08; C20	Respiratory Tract Diseases; Immune System Diseases
mesh:D018814	Multiple Endocrine Neoplasia Type 2b	C04; C16; C19	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:608709	Lipodystrophy, partial, acquired	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D018813	Multiple Endocrine Neoplasia Type 2a	C04; C16; C19	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:138000	Glomuvenous malformations	C04; C14	Neoplasms; Cardiovascular Diseases
omim:300755	Agammaglobulinemia, type 1, X-linked	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D003327	Coronary Disease	C14	Cardiovascular Diseases
mesh:D003328	Coronary Thrombosis	C14	Cardiovascular Diseases
mesh:D003329	Coronary Vasospasm	C14	Cardiovascular Diseases
omim:300758	Hypospadias 2, X-linked	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300751	Anemia, sideroblastic, X-linked	C15	Hemic and Lymphatic Diseases
mesh:D003323	Coronary Aneurysm	C14	Cardiovascular Diseases
omim:300752	Protoporphyria, erythropoietic, X-linked dominant	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D003324	Coronary Artery Disease	C14	Cardiovascular Diseases
omim:604233	Epilepsy, generalized, with febrile seizures plus, type 2	C10	Nervous system Diseases
mesh:D001237	Asphyxia	C21; C23	Disorders of Environmental Origin; Pathological Conditions, Signs and Symptoms
mesh:D003320	Corneal Ulcer	C01; C11	Bacterial Infections and Mycoses; Eye Diseases
mesh:D009102	Multiple Organ Failure	C23	Pathological Conditions, Signs and Symptoms
mesh:D009101	Multiple Myeloma	C04; C14; C15; C20	Neoplasms; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D009104	Multiple Trauma	C21	Disorders of Environmental Origin
mesh:D009103	Multiple Sclerosis	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D009107	Mumps	C02; C07	Virus Diseases; Stomatognathic Diseases
omim:604232	Leber congenital amaurosis 3	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:108500	Episodic ataxia, type 2	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D013285	Strabismus	C10; C11	Nervous system Diseases; Eye Diseases
omim:162800	Hematopoiesis, cyclic	C15	Hemic and Lymphatic Diseases
mesh:D013281	Stomatitis, Aphthous	C07	Stomatognathic Diseases
mesh:D001229	Aspergillosis, Allergic Bronchopulmonary	C01; C08; C20	Bacterial Infections and Mycoses; Respiratory Tract Diseases; Immune System Diseases
mesh:D001228	Aspergillosis	C01	Bacterial Infections and Mycoses
mesh:D003333	Coronaviridae Infections	C02	Virus Diseases
omim:231550	Achalasia-addisonianism-alacrimia syndrome	C10; C19	Nervous system Diseases; Endocrine System Diseases
mesh:D013280	Stomatitis	C07	Stomatognathic Diseases
omim:208230	Arthropathy, progressive pseudorheumatoid, of childhood	C05	Musculoskeletal Diseases
omim:249700	Langer mesomelic dysplasia	C05	Musculoskeletal Diseases
omim:212720	Martsolf syndrome	C10; C11; C19; C23; F03	Nervous system Diseases; Eye Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D004890	Erythema	C17	Skin and Connective Tissue Diseases
mesh:D005598	Fractures, Spontaneous	C21	Disorders of Environmental Origin
mesh:D006211	Pantothenate Kinase-Associated Neurodegeneration	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013276	Stomach Ulcer	C06	Digestive System Diseases
mesh:D006210	Hallermann's Syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004893	Erythema Nodosum	C17; C20; C21	Skin and Connective Tissue Diseases; Immune System Diseases; Disorders of Environmental Origin
mesh:D013274	Stomach Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
omim:219200	Cutis laxa, autosomal recessive, type II	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:158590	Neuropathy, distal hereditary motor, type IIA	C10	Nervous system Diseases
omim:300770	Pulmonary alveolar proteinosis	C08	Respiratory Tract Diseases
omim:133020	Erythermalgia, primary	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D020790	Diabetes Insipidus, Neurogenic	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:601186	Microphthalmia, syndromic 9	C08; C11; C14; C16; C23	Respiratory Tract Diseases; Eye Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:255600	Myosclerosis, congenital	C05; C10; C17	Musculoskeletal Diseases; Nervous system Diseases; Skin and Connective Tissue Diseases
omim:604250	Hemochromatosis, type 3	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:266130	Glutathione synthetase deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020788	Bardet-Biedl Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:278700	Xeroderma pigmentosum, group A	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D006223	Hamartoma Syndrome, Multiple	C04; C16	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014395	Peritonitis, Tuberculous	C01; C06	Bacterial Infections and Mycoses; Digestive System Diseases
mesh:D013262	Stevens-Johnson Syndrome	C07; C17	Stomatognathic Diseases; Skin and Connective Tissue Diseases
mesh:D001201	Ascites	C23	Pathological Conditions, Signs and Symptoms
mesh:D003318	Corneal Opacity	C11	Eye Diseases
mesh:D005585	Influenza in Birds	C02; C22	Virus Diseases; Animal Diseases
mesh:D014397	Tuberculosis, Pulmonary	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
mesh:D014396	Tuberculosis, Pleural	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
mesh:D003316	Corneal Diseases	C11	Eye Diseases
omim:204700	Amelogenesis imperfecta, type IIA1	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006222	Hamartoma	C04	Neoplasms
omim:248190	Hypomagnesemia, renal, with ocular involvement	C11; C16; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006228	Hand Deformities, Congenital	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:231530	3-hydroxyacyl-CoA dehydrogenase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:208250	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	C05; C14; C17; C20	Musculoskeletal Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
omim:162000	Hyperuricemic nephropathy, familial juvenile	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:266140	Pyropoikilocytosis	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014390	Tuberculosis, Meningeal	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
omim:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	C16; C18; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:136800	Fuchs endothelial corneal dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:236792	L-2-hydroxyglutaric aciduria	C10; C14; C16; C18; C23; F03	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:604278	Renal tubular acidosis, proximal, with ocular abnormalities	C11; C12; C13; C16; C18	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000505	Alopecia	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000506	Alopecia Areata	C17	Skin and Connective Tissue Diseases
omim:604273	Complex V, mitochondrial respiratory chain, deficiency of	C18	Nutritional and Metabolic Diseases
omim:277600	Weill-Marchesani syndrome, recessive	C05; C11; C16; C17; C23	Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:604271	Short stature	C05	Musculoskeletal Diseases
mesh:D046152	Gastrointestinal Stromal Tumors	C04; C06	Neoplasms; Digestive System Diseases
omim:300705	Mental retardation, X-linked 17/31, microduplication	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300706	Mental retardation, X-linked syndromic, Turner type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D055752	Small Cell Lung Carcinoma	C04; C08	Neoplasms; Respiratory Tract Diseases
omim:300707	STAR syndrome	C05; C12; C13; C16; C23	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D046150	Laron Syndrome	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D003371	Cough	C08; C23	Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
omim:201400	Adrenocorticotropic hormone deficiency	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D006201	Hair Diseases	C17	Skin and Connective Tissue Diseases
mesh:D055744	Invasive Pulmonary Aspergillosis	C08	Respiratory Tract Diseases
omim:612100	Autism, susceptibility to, 15	F03	Mental Disorders
omim:604286	Muscular dystrophy, limb-girdle, type 2E	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:266120	Anemia, hemolytic, due to UMPH1 deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:277610	Weissenbacher-Zweymuller syndrome	C05; C07; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612108	Fasting plasma glucose level QTL 1	NA	Unclassified
omim:612109	Oculoauricular syndrome	C09; C11; C16	Otorhinolaryngologic Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:269500	Sclerosteosis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:211750	C syndrome	C05; C10; C16; C17; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D051677	Histiocytoma, Malignant Fibrous	C04	Neoplasms
mesh:D019955	Conduct Disorder	F03	Mental Disorders
mesh:D055728	Primary Myelofibrosis	C15	Hemic and Lymphatic Diseases
mesh:D000532	Altitude Sickness	C08	Respiratory Tract Diseases
omim:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:241080	Woodhouse-Sakati syndrome	C10; C17; C18; C19; C23; F03	Nervous system Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D055732	Pulmonary Aspergillosis	C08	Respiratory Tract Diseases
omim:604290	Cerebellar ataxia	C11; C16; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612119	Trehalase deficiency	NA	Unclassified
mesh:D013224	Status Asthmaticus	C08; C20	Respiratory Tract Diseases; Immune System Diseases
omim:240800	Hypoglycemia of infancy, leucine-sensitive	C18	Nutritional and Metabolic Diseases
omim:601152	Hereditary motor and sensory neuropathy VI	C10; C16; C20	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D013226	Status Epilepticus	C10	Nervous system Diseases
omim:606408	Ehlers-Danlos due to tenascin X deficiency	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:606407	Homozygous 2p16 deletion syndrome	C10; C11	Nervous system Diseases; Eye Diseases
mesh:D000544	Alzheimer Disease	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D000542	Alveolitis, Extrinsic Allergic	C08; C20	Respiratory Tract Diseases; Immune System Diseases
omim:300717	Myopathy, reducing body, X-linked, severe early-onset	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612126	Dystonia-18	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:266100	Epilepsy, pyridoxine-dependent	C10	Nervous system Diseases
omim:300718	Myopathy, reducing body, X-linked, childhood-onset	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612124	Cardiomyopathy, familial hypertrophic, 12	C14	Cardiovascular Diseases
omim:300716	Mental retardation, X-linked 95	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:601154	Cardiomyopathy, dilated, 1E	C14	Cardiovascular Diseases
omim:601495	Agammaglobulinemia	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:600363	Spastic paraplegia-6	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601494	Cardiomyopathy, dilated, 1D	C14	Cardiovascular Diseases
omim:600994	Deafness, autosomal dominant 5	C07; C09; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms
omim:600995	Nephrotic syndrome, steroid-resistant, autosomal recessive	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:600996	Arrhythmogenic right ventricular dysplasia 2	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:164230	Obsessive-compulsive disorder 1	F03	Mental Disorders
mesh:D003555	Cystinuria	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003554	Cystinosis	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003557	Phyllodes Tumor	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D004660	Encephalitis	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D003556	Cystitis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D003550	Cystic Fibrosis	C06; C08; C16	Digestive System Diseases; Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609549	Nanophthalmos 2	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014766	Viremia	C02; C23	Virus Diseases; Pathological Conditions, Signs and Symptoms
omim:601492	Mucopolysaccharidosis type IX	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:235200	HFE hemochromatosis, modifier of	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:314390	Vacterl association with hydrocephalus, x-linked	C05; C06; C08; C10; C12; C13; C14; C16; C23	Musculoskeletal Diseases; Digestive System Diseases; Respiratory Tract Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:153400	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	C11; C15	Eye Diseases; Hemic and Lymphatic Diseases
omim:604498	Thrombocytopenia, congenital amegakaryocytic	C15	Hemic and Lymphatic Diseases
mesh:D005705	Gallbladder Diseases	C06	Digestive System Diseases
mesh:D005706	Gallbladder Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D042882	Gallstones	C06; C23	Digestive System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002446	Celiac Disease	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
omim:609529	Immunoglobulin A deficiency	C20	Immune System Diseases
omim:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	C10; C16; C17	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D004646	Emphysema	C23	Pathological Conditions, Signs and Symptoms
mesh:D014786	Vision Disorders	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:609524	Myopathy, myofibrillar, filamin C-related	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:148900	Segmentation syndrome 1	C05; C08; C09; C16	Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600376	Hereditary hemorrhagic telangiectasia-2	C08; C14; C15; C16	Respiratory Tract Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609533	Deafness, autosomal recessive 23	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D053040	Nephrolithiasis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:168300	Paramyotonia congenita	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:609532	Hepatitic C virus, susceptibility to	C02	Virus Diseases
omim:164200	Oculodentodigital dysplasia	C02; C05; C07; C10; C11; C16; C23; F03	Virus Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D019838	Neck Injuries	C21	Disorders of Environmental Origin
mesh:D052517	Multiple Sulfatase Deficiency Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003560	Cysts	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D014777	Virus Diseases	C02	Virus Diseases
omim:609536	C5 deficiency	C20	Immune System Diseases
omim:609535	Clopidogrel, impaired responsiveness to	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:251000	Methylmalonic aciduria, mut(0) type	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:600955	Obesity with impaired prohormone processing	C18; C19; C23	Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:603649	Cone-rod dystrophy 7	NA	Unclassified
omim:600320	Diabetes mellitus, insulin-dependent, 5	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:609583	Joubert syndrome 4	C08; C10; C11; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D014718	Vesico-Ureteral Reflux	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D054515	Vulvar Vestibulitis	C13	Female Urogenital Diseases and Pregnancy Complications
omim:182980	Spinal muscular atrophy, late-onset, Finkel type	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:148210	Keratitis-ichthyosis-deafness syndrome	C09; C10; C11; C16; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:137760	Glaucoma 1, open angle, E	C11	Eye Diseases
omim:600965	Hearing loss, low-frequency sensorineural	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600316	Deafness, autosomal recessive 3	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600969	Epiphyseal dysplasia, multiple, 3	C05	Musculoskeletal Diseases
omim:278800	De Sanctis-Cacchione syndrome	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:600962	Ichthyosis kistrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:609597	Parietal foramina 2	C05	Musculoskeletal Diseases
mesh:D003586	Cytomegalovirus Infections	C02	Virus Diseases
omim:223800	Dyggve-Melchior-Clausen disease	C05; C10; C16; C19; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D004696	Endocarditis	C14	Cardiovascular Diseases
mesh:D004694	Endocardial Cushion Defects	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004695	Endocardial Fibroelastosis	C14	Cardiovascular Diseases
omim:137750	Glaucoma 1A, primary open angle, juvenile-onset	C11	Eye Diseases
mesh:D053842	Microsatellite Instability	C23	Pathological Conditions, Signs and Symptoms
mesh:D053840	Brugada Syndrome	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054546	Neuroacanthocytosis	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600974	Deafness, autosomal recessive 7	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:603629	Deafness, autosomal recessive 21	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600977	Cone-rod dystrophy 5	NA	Unclassified
omim:155240	Medullary thyroid carcinoma	C04; C19	Neoplasms; Endocrine System Diseases
omim:245590	Growth hormone insensitivity with immunodeficiency	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:600971	Deafness, autosomal recessive 6	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:600972	Achondrogenesis Ib	C05	Musculoskeletal Diseases
omim:190000	Transferrin serum level QTL	C15	Hemic and Lymphatic Diseases
omim:609560	Mitochondrial DNA depletion syndrome, myopathic form	C05; C10; C18	Musculoskeletal Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
omim:602579	Carbohydrate-deficient glycoprotein syndrome, type Ib	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D044342	Malnutrition	C18	Nutritional and Metabolic Diseases
omim:603622	Deafness, autosomal dominant 17	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004687	Enchondromatosis	C05	Musculoskeletal Diseases
omim:308240	Lymphoproliferative syndrome, X-linked	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:223000	Lactase deficiency, congenital	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D004681	Encephalomyelitis, Autoimmune, Experimental	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D054537	Atrioventricular Block	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004685	Encephalomyelitis, Venezuelan Equine	C02; C10	Virus Diseases; Nervous system Diseases
omim:153200	Lymphedema, hereditary, ii	C15	Hemic and Lymphatic Diseases
omim:270800	Spastic paraplegia-5A	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:602585	Microcephaly and digital abnormalities with normal intelligence	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600334	Tibial muscular dystrophy, tardive	C05; C10; C14; C16	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004678	Encephalomalacia	C10	Nervous system Diseases
mesh:D004679	Encephalomyelitis	C10	Nervous system Diseases
omim:609579	Scaphocephaly, maxillary retrusion, and mental retardation	C05; C07; C10; C16; C23; F03	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D004675	Encephalitis, Tick-Borne	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D004672	Encephalitis, Japanese	C02; C10	Virus Diseases; Nervous system Diseases
omim:608807	Muscular dystrophy, limb-girdle, type 2J	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054559	Hyperphosphatemia	C18	Nutritional and Metabolic Diseases
omim:212065	Carbohydrate-deficient glycoprotein syndrome, type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608808	Transposition of the great arteries, dextro-looped 1	C10; C14; C16; C23; F03	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:212066	Carbohydrate-deficient glycoprotein syndrome, type II	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020078	Neurogenic Inflammation	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:300699	Mental retardation, X-linked 94	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300696	Myopathy, X-linked, with postural muscle atrophy	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:300695	Scapuloperoneal myopathy, X-linked dominant	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608800	Sudden infant death with dysgenesis of the testes syndrome	C12; C19; C23	Male Urogenital Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:118300	Charcot-Marie-Tooth disease, type 1E	C09; C10; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:608804	Leukodystrophy, hypomyelinating, 2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:111200	Blood group, Auberger system	C15	Hemic and Lymphatic Diseases
omim:603688	Prostate cancer, progression and metastasis of	C04; C10; C12	Neoplasms; Nervous system Diseases; Male Urogenital Diseases
mesh:D008881	Migraine Disorders	C10	Nervous system Diseases
omim:603689	Myopathy, proximal, with early respiratory muscle involvement	C05; C08; C10	Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous system Diseases
omim:608013	Gaucher disease, perinatal lethal	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:601410	Diabetes mellitus, transient neonatal, 1	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:180920	Aplasia of lacrimal and salivary glands	C06; C11	Digestive System Diseases; Eye Diseases
omim:601414	Retinitis pigmentosa-18	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610460	6-mercaptopurine sensitivity	NA	Unclassified
omim:601419	Myopathy, desmin-related, cardioskeletal	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D020896	Hypovolemia	C23	Pathological Conditions, Signs and Symptoms
omim:600919	Cardiac arrhythmia, ankyrin-B-related	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D017514	Pityriasis Lichenoides	C17	Skin and Connective Tissue Diseases
omim:190351	Trichorhinophalangeal syndrome, type III	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:190350	Trichorhinophalangeal syndrome, type I	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002493	Central Nervous System Diseases	C10	Nervous system Diseases
omim:217700	Corneal endothelial dystrophy 2	C11	Eye Diseases
omim:271930	Striatonigral degeneration, infantile	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:261640	Hyperphenylalaninemia, BH4-deficient, A	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D021921	Aortic Stenosis, Supravalvular	C14	Cardiovascular Diseases
omim:610455	Tumoral calcinosis, familial, normophosphatemic	C04; C07; C11; C17; C18	Neoplasms; Stomatognathic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D054556	Venous Thromboembolism	C14	Cardiovascular Diseases
omim:300676	Mental retardation, X-linked, syndromic 14	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005770	Gastrointestinal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
omim:254090	Ullrich congenital muscular dystrophy	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005776	Gaucher Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300672	Epileptic encephalopathy, early infantile, 2	C10	Nervous system Diseases
omim:300673	Encephalopathy, neonatal severe	C10	Nervous system Diseases
mesh:D009261	Nail-Patella Syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D034141	Hypoalbuminemia	C15	Hemic and Lymphatic Diseases
omim:610448	Chilblain lupus	C17	Skin and Connective Tissue Diseases
omim:610446	Buruli ulcer, susceptibility to	C17	Skin and Connective Tissue Diseases
omim:610445	Night blindness, congenital stationary, autosomal dominant 1	C11	Eye Diseases
omim:612736	GAMT deficiency	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610444	Night blindness, congenital stationary, autosomal dominant 3	C11	Eye Diseases
omim:610441	Testicular microlithiasis	C12; C19	Male Urogenital Diseases; Endocrine System Diseases
mesh:D005764	Gastroesophageal Reflux	C06	Digestive System Diseases
mesh:D005767	Gastrointestinal Diseases	C06	Digestive System Diseases
omim:271150	Spinal muscular atrophy-4	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:300661	Gout, PRPS-related	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608810	Myopathy, cardioskeletal, desmin-related, with cataract	C05; C10; C11; C14	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Cardiovascular Diseases
omim:602540	Hystrix-like ichthyosis with deafness	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:190320	Trichodontoosseous syndrome	C05; C07; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612740	Porphyria, acute hepatic	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:212070	Carboxypeptidase N deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020031	Epstein-Barr Virus Infections	C02; C04	Virus Diseases; Neoplasms
omim:260660	Cousin syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609508	Stickler syndrome, type i, nonsyndromic ocular	C11	Eye Diseases
mesh:D005757	Gastritis, Atrophic	C06	Digestive System Diseases
mesh:D005756	Gastritis	C06	Digestive System Diseases
omim:606799	Stroke, susceptibility to, 1	C10; C14	Nervous system Diseases; Cardiovascular Diseases
omim:181450	Ulnar-mammary syndrome	C05; C07; C16; C17; C19	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases
mesh:D007898	Leishmaniasis, Visceral	C03	Parasitic Diseases
omim:136630	Mental retardation, FRA12A type	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D007896	Leishmaniasis	C03; C17	Parasitic Diseases; Skin and Connective Tissue Diseases
mesh:D007890	Leiomyosarcoma	C04	Neoplasms
omim:269250	Schneckenbecken dysplasia	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	C05; C06; C15; C16	Musculoskeletal Diseases; Digestive System Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610427	Night blindness, congenital stationary, type 2B	C11	Eye Diseases
omim:601451	Nevo syndrome	C05; C17; C23	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:612712	Leber congenital amaurosis 13	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610425	Cataract, lamellar 2	C11	Eye Diseases
omim:601457	Severe combined immunodeficiency, B cell-negative	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
omim:610426	Microphthalmia, isolated, with cataract 4	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612718	AGAT deficiency	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610424	Hepatitis B virus, susceptibility to	C02	Virus Diseases
omim:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601455	Charcot-Marie-Tooth disease, type 4D	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007889	Leiomyoma	C04	Neoplasms
mesh:D007888	Leigh Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D004617	Embolism	C14	Cardiovascular Diseases
omim:271980	Succinic semialdehyde dehydrogenase deficiency	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D009298	Nasal Polyps	C08; C09; C23	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004612	Elliptocytosis, Hereditary	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004613	Ellis-Van Creveld Syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D007077	Ileal Diseases	C06	Digestive System Diseases
mesh:D020852	Lyme Neuroborreliosis	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
mesh:D007079	Ileitis	C06	Digestive System Diseases
mesh:D009290	Narcolepsy	C10; F03	Nervous system Diseases; Mental Disorders
omim:226650	Epidermolysis bullosa, generalized atrophic benign	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:182900	Spherocytosis, type 1	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D028361	Mitochondrial Diseases	C18	Nutritional and Metabolic Diseases
omim:119300	van der Woude syndrome	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602522	Bartter syndrome, type 4	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:190300	Essential tremor, susceptibility to	C10	Nervous system Diseases
omim:253310	Lethal congenital contracture syndrome 1	C05; C07; C10; C13; C15; C16; C20; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008831	Microcephaly	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:242100	Ichthyosiform erythroderma, congenital	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D005733	Gangliosidoses	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002481	Cellulitis	C01; C17; C23	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004605	Elephantiasis, Filarial	C03; C15	Parasitic Diseases; Hemic and Lymphatic Diseases
mesh:D005736	Gardner Syndrome	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007877	Legionnaires' Disease	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
mesh:D007873	Legg-Perthes Disease	C05	Musculoskeletal Diseases
mesh:D015267	Churg-Strauss Syndrome	C14; C15	Cardiovascular Diseases; Hemic and Lymphatic Diseases
omim:606777	Glucose transport defect, blood-brain barrier	C05; C10; C16; C18; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:215600	Cirrhosis, noncryptogenic, susceptibility to	C06	Digestive System Diseases
mesh:D007871	Leg Ulcer	C17	Skin and Connective Tissue Diseases
mesh:D015266	Carcinoma, Merkel Cell	C04	Neoplasms
omim:189500	Witkop syndrome	C07; C16; C17	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:244460	Kenny-Caffey syndrome-1	C05; C10; C19; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:261630	Hyperphenylalaninemia, BH4-deficient, C	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005729	Ganglioneuroma	C04	Neoplasms
omim:184840	Stickler syndrome, type III	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:601472	Charcot-Marie-Tooth disease, type 2D	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002471	Cell Transformation, Neoplastic	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D007863	Lecithin Acyltransferase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020065	Hepatopulmonary Syndrome	C06; C08	Digestive System Diseases; Respiratory Tract Diseases
omim:226670	Muscular dystrophy with epidermolysis bullosa simplex	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:123150	Jackson-Weiss syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606785	Crigler-Najjar syndrome, type II	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606788	Anorexia nervosa, susceptibility to	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:144750	Hyperostosis, endosteal	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003528	Carcinoma, Adenoid Cystic	C04	Neoplasms
mesh:D020821	Dystonic Disorders	C10	Nervous system Diseases
omim:182920	Myopathy, spheroid body	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612702	Kallmann syndrome 6	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:612703	Microcephaly, primary autosomal recessive, 7	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008850	Microphthalmos	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608874	Orofacial cleft 5	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012208	Rhabdomyosarcoma	C04	Neoplasms
mesh:D045888	Ganglion Cysts	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:606762	Hyperinsulinism-hyperammonemia syndrome	C18	Nutritional and Metabolic Diseases
omim:175780	Porencephaly	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:256050	Atelosteogenesis II	C05; C07; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D020925	Hypoxia-Ischemia, Brain	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D007039	Hypotrichosis	C17	Skin and Connective Tissue Diseases
mesh:D007964	Leukocytosis	C15; C23	Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
omim:125850	MODY, type I	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:300600	Aland Island eye disease	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D007037	Hypothyroidism	C19	Endocrine System Diseases
omim:606768	Myopathy, distal, with anterior tibial onset	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007035	Hypothermia	C23	Pathological Conditions, Signs and Symptoms
mesh:D013341	Sturge-Weber Syndrome	C04; C10; C14	Neoplasms; Nervous system Diseases; Cardiovascular Diseases
omim:300604	Premature ovarian failure 2B	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D012214	Rheumatic Heart Disease	C01; C14	Bacterial Infections and Mycoses; Cardiovascular Diseases
mesh:D013344	Subacute Sclerosing Panencephalitis	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D013345	Subarachnoid Hemorrhage	C10; C14; C23	Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012213	Rheumatic Fever	C01; C05	Bacterial Infections and Mycoses; Musculoskeletal Diseases
mesh:D011115	Polyneuropathies	C10	Nervous system Diseases
mesh:D007969	Leukomalacia, Periventricular	C10; C14; C16	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012218	Rheumatoid Nodule	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D007968	Leukoencephalopathy, Progressive Multifocal	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D011111	Polymyalgia Rheumatica	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D012216	Rheumatic Diseases	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D007965	Leukodystrophy, Globoid Cell	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007966	Leukodystrophy, Metachromatic	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:227240	Skin/hair/eye pigmentation 5, black/nonblack hair	C17	Skin and Connective Tissue Diseases
omim:300606	Hypodontia, X-linked	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007021	Hypospadias	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300607	Hyperekplexia and epilepsy	C10	Nervous system Diseases
mesh:D007020	Hypoprothrombinemias	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020936	Epilepsy, Benign Neonatal	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007972	Leukoplakia, Oral	C04; C07; C23	Neoplasms; Stomatognathic Diseases; Pathological Conditions, Signs and Symptoms
omim:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	C06; C15; C18; C19; C20; C23	Digestive System Diseases; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007022	Hypotension	C14	Cardiovascular Diseases
mesh:D007024	Hypotension, Orthostatic	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D007970	Leukopenia	C15	Hemic and Lymphatic Diseases
mesh:D012221	Rhinitis, Allergic, Perennial	C08; C09; C20	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Immune System Diseases
mesh:D007971	Leukoplakia	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
omim:300615	Brunner syndrome	C10; C16; C18; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
mesh:D012220	Rhinitis	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D015325	Pyruvate Dehydrogenase Complex Deficiency Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015324	Pyruvate Carboxylase Deficiency Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608890	Waardenburg syndrome, type IID	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608895	Macular degeneration, age-related, 3	C11	Eye Diseases
mesh:D017490	Ichthyosis, Lamellar	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:Q000002	Abnormalities	NA	Unclassified
omim:160150	Myopathy, centronuclear	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D020019	Neurocysticercosis	C03; C10	Parasitic Diseases; Nervous system Diseases
mesh:D017492	Keratosis, Seborrheic	C17	Skin and Connective Tissue Diseases
mesh:D017495	Hyperpigmentation	C17	Skin and Connective Tissue Diseases
mesh:D015356	Retinal Artery Occlusion	C11; C14	Eye Diseases; Cardiovascular Diseases
mesh:D007057	Ichthyosis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D017497	Hidradenitis Suppurativa	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
mesh:D017496	Hypopigmentation	C17	Skin and Connective Tissue Diseases
mesh:D017499	Porokeratosis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:147950	Kallmann syndrome 2	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D015352	Dry Eye Syndromes	C11	Eye Diseases
mesh:D020022	Genetic Predisposition to disease	C23	Pathological Conditions, Signs and Symptoms
mesh:D007945	Leukemia, Lymphoid	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D007946	Leukemia, Mast-Cell	C04	Neoplasms
omim:608898	Hemophagocytic lymphohistiocytosis, familial, 3	C15	Hemic and Lymphatic Diseases
mesh:D007943	Leukemia, Hairy Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:219900	Cystinosis, late-onset juvenile or adolescent nephropathic	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007947	Leukemia, Megakaryoblastic, Acute	C04	Neoplasms
mesh:D007948	Leukemia, Monocytic, Acute	C04	Neoplasms
omim:605280	Spastic paraplegia-13	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008944	Mitral Valve Insufficiency	C14	Cardiovascular Diseases
mesh:D020914	Myopathies, Structural, Congenital	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612692	Immunodeficiency, hypogammaglobulinemia, and reduced B cells	C20	Immune System Diseases
mesh:D008945	Mitral Valve Prolapse	C14	Cardiovascular Diseases
mesh:D008946	Mitral Valve Stenosis	C14	Cardiovascular Diseases
mesh:D008947	Mixed Connective Tissue Disease	C17	Skin and Connective Tissue Diseases
mesh:D020915	Korsakoff Syndrome	C10; C21; C23; F03	Nervous system Diseases; Disorders of Environmental Origin; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D007040	Hypoventilation	C08; C23	Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
mesh:D008949	Adenoma, Pleomorphic	C04	Neoplasms
mesh:D013375	Substance Withdrawal Syndrome	C21; F03	Disorders of Environmental Origin; Mental Disorders
mesh:D020016	Activated Protein C Resistance	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605289	Split-hand/foot malformation, type 4	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007951	Leukemia, Myeloid	C04	Neoplasms
mesh:D007952	Leukemia, Plasma Cell	C04; C20	Neoplasms; Immune System Diseases
omim:607417	Mental retardation, autosomal recessive 2A	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:612690	Spherocytosis, hereditary, type 5	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017488	Hyperkeratosis, Epidermolytic	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:227220	Skin/hair/eye pigmentation 1, blond/brown hair	C17	Skin and Connective Tissue Diseases
omim:201000	Carpenter syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610374	Diabetes mellitus, transient neonatal 2	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:300639	Mental retardation-hypotonic facies syndrome, X-linked, 2	C05; C07; C10; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:306900	Hemophilia B	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610379	West nile virus, susceptibility to	NA	Unclassified
mesh:D009216	Myopia	C11	Eye Diseases
mesh:D009214	Myoma	C04	Neoplasms
mesh:D007918	Leprosy	C01	Bacterial Infections and Mycoses
mesh:D009212	Myoglobinuria	C05	Musculoskeletal Diseases
mesh:D018203	Sarcoma, Endometrial Stromal	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
omim:608836	CPT II deficiency, lethal neonatal	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007926	Lesch-Nyhan Syndrome	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608837	Carney complex variant	C04; C05; C14; C16; C17	Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D017436	Kallmann Syndrome	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:300640	Invasive pneumococcal disease, recurrent isolated, 2	C01	Bacterial Infections and Mycoses
mesh:D017437	Skin and Connective Tissue Diseases	C17	Skin and Connective Tissue Diseases
mesh:D018201	Nephroma, Mesoblastic	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D017439	Cicatrix, Hypertrophic	C23	Pathological Conditions, Signs and Symptoms
omim:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D001327	Autoimmune Diseases	C20	Immune System Diseases
mesh:D018207	Angiomyolipoma	C04	Neoplasms
mesh:D001321	Autistic Disorder	F03	Mental Disorders
omim:610370	Diarrhea 4, malabsorptive, congenital	C23	Pathological Conditions, Signs and Symptoms
omim:200610	Achondrogenesis-hypochondrogenesis, type II	C05	Musculoskeletal Diseases
mesh:D018208	Liposarcoma, Myxoid	C04	Neoplasms
omim:607426	Coenzyme Q10 deficiency	C05; C10; C16; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D052496	Lipodystrophy, Familial Partial	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D009208	Myoepithelioma	C04	Neoplasms
omim:130600	Elliptocytosis-2	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D052497	Lipodystrophy, Congenital Generalized	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:605990	Nephrolithiasis, uric acid, susceptibility to	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:608840	Muscular dystrophy, congenital, type 1D	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009205	Myocarditis	C14	Cardiovascular Diseases
mesh:D009207	Myoclonus	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:256731	Ceroid-lipofuscinosis, neuronal-5, variant late infantile	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D047748	Pituitary ACTH Hypersecretion	C10; C19	Nervous system Diseases; Endocrine System Diseases
mesh:D009202	Cardiomyopathies	C14	Cardiovascular Diseases
mesh:D009203	Myocardial Infarction	C14	Cardiovascular Diseases
mesh:D007938	Leukemia	C04	Neoplasms
omim:606719	Pancreatic cancer/melanoma syndrome	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
omim:300653	Phosphoglycerate kinase 1 deficiency	C05; C10; C15; C23	Musculoskeletal Diseases; Nervous system Diseases; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D051359	Lymphohistiocytosis, Hemophagocytic	C15	Hemic and Lymphatic Diseases
mesh:D013398	Sudden Infant Death	C23	Pathological Conditions, Signs and Symptoms
omim:300659	Mental retardation, X-linked 93	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610381	Cone-rod dystrophy 11	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610380	Loeys-Dietz syndrome, type 2B	C05; C14; C16; C17	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:610356	Retinal cone dystrophy 3b	C11	Eye Diseases
omim:610353	Epilepsy, nocturnal frontal lobe, type 4	C10	Nervous system Diseases
omim:256030	Nemaline myopathy 2, autosomal recessive	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D007010	Hyponatremia	C18	Nutritional and Metabolic Diseases
omim:262000	Bjornstad syndrome	C09; C10; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:231670	Glutaricaciduria, type I	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:116150	Cataract-microcornea syndrome	C11	Eye Diseases
omim:186300	Syndactyly, type V	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015319	Fructose-1,6-Diphosphatase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D018221	Fibromatosis, Abdominal	C04	Neoplasms
mesh:D000292	Pelvic Inflammatory Disease	C01; C13	Bacterial Infections and Mycoses; Female Urogenital Diseases and Pregnancy Complications
mesh:D000291	Adnexal Diseases	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D018223	Dermatofibrosarcoma	C04	Neoplasms
omim:606705	Deafness, autosomal dominant 36	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018222	Fibromatosis, Aggressive	C04	Neoplasms
mesh:D015318	Fructose Metabolism, Inborn Errors	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007906	Lens Subluxation	C11	Eye Diseases
mesh:D009232	Myxoma	C04	Neoplasms
mesh:D007905	Lens Diseases	C11	Eye Diseases
mesh:D018227	Sarcoma, Clear Cell	C04	Neoplasms
mesh:D018226	Fibroadenoma	C04	Neoplasms
mesh:D018229	Angiomyoma	C04	Neoplasms
mesh:D007014	Hypophosphatasia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007012	Hypopharyngeal Neoplasms	C04; C07; C09	Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
omim:607447	Obesity, susceptibility to, BMIQ4	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007011	Hypoparathyroidism	C19	Endocrine System Diseases
omim:300623	Fragile X tremor/ataxia syndrome	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:300622	Tn syndrome	C20	Immune System Diseases
mesh:D007018	Hypopituitarism	C10; C19	Nervous system Diseases; Endocrine System Diseases
mesh:D007015	Hypophosphatemia, Familial	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607450	Arrhythmogenic right ventricular dysplasia 8	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612650	Ciliary dyskinesia, primary, 12	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
omim:612651	Endocrine-cerebroosteodysplasia	C05; C10; C16; C19	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:612652	Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities	C10; C16; C17; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:180860	Silver-Russell syndrome	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:612653	Spherocytosis, type 4	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:601518	Prostate cancer 1, 176807	C04; C12	Neoplasms; Male Urogenital Diseases
omim:607453	Deafness, autosomal dominant 44	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009222	Myotonia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:612656	Episodic ataxia, type 6	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:214150	Cerebrooculofacioskeletal syndrome 1	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:612657	Cone-rod dystrophy 12	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009223	Myotonic Dystrophy	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:241850	Bamforth-Lazarus syndrome	C19	Endocrine System Diseases
mesh:D009224	Myotonia Congenita	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:166260	Gnthodiaphyseal dysplasia	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018212	Giant Cell Tumor of Bone	C04	Neoplasms
mesh:D017449	Dermatitis, Allergic Contact	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D007008	Hypokalemia	C18	Nutritional and Metabolic Diseases
mesh:D018211	Chondrosarcoma, Mesenchymal	C04	Neoplasms
mesh:D012206	Rhabdomyolysis	C05	Musculoskeletal Diseases
mesh:D011125	Adenomatous Polyposis Coli	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608864	Orofacial cleft 6	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D011127	Polyps	C23	Pathological Conditions, Signs and Symptoms
mesh:D009221	Myositis Ossificans	C05	Musculoskeletal Diseases
mesh:D009220	Myositis	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:300635	Lymphoproliferative syndrome, X-linked, 2	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:607459	Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis	C10; C11; C16; C23	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D018219	Histiocytoma, Benign Fibrous	C04	Neoplasms
mesh:D007003	Hypoglycemia	C18	Nutritional and Metabolic Diseases
omim:607457	Blood group GIL	C15	Hemic and Lymphatic Diseases
omim:115700	Cataract, crystalline aculeiform	C11	Eye Diseases
omim:300636	Atypical mycobacteriosis, familial	C01	Bacterial Infections and Mycoses
mesh:D017445	Skin Diseases, Vascular	C17	Skin and Connective Tissue Diseases
mesh:D005693	Galactosemias	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300630	Mental retardation, X-linked 59	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300633	Hypospadias 1, X-linked	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007006	Hypogonadism	C19	Endocrine System Diseases
mesh:D000236	Adenoma	C04	Neoplasms
omim:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D012295	Rift Valley Fever	C02; C06; C22	Virus Diseases; Digestive System Diseases; Animal Diseases
omim:122000	Corneal dystrophy, hereditary polymorphous posterior	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000235	Adenolymphoma	C04	Neoplasms
omim:130010	Ehlers-Danlos syndrome, type II	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018248	Adenoma, Liver Cell	C04; C06	Neoplasms; Digestive System Diseases
mesh:D018249	Adenoma, Oxyphilic	C04	Neoplasms
mesh:D018246	Adrenocortical Adenoma	C04; C19	Neoplasms; Endocrine System Diseases
mesh:D000230	Adenocarcinoma	C04	Neoplasms
mesh:D000231	Adenocarcinoma, Papillary	C04	Neoplasms
mesh:D001361	Avitaminosis	C18	Nutritional and Metabolic Diseases
mesh:D018242	Neuroectodermal Tumors, Primitive	C04	Neoplasms
mesh:D018243	Teratocarcinoma	C04	Neoplasms
mesh:D019773	Epiretinal Membrane	C11	Eye Diseases
mesh:D018240	Endodermal Sinus Tumor	C04	Neoplasms
omim:304700	Mohr-Tranebjaerg syndrome	C09; C10; C11; C18; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:166250	Osteoglophonic dysplasia	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:607464	Thyroid carcinoma, Hurthle cell	C04; C19	Neoplasms; Endocrine System Diseases
omim:236250	Homocystinuria due to MTHFR deficiency	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D010051	Ovarian Neoplasms	C04; C13; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D018239	Seminoma	C04	Neoplasms
mesh:D011183	Postoperative Complications	C23	Pathological Conditions, Signs and Symptoms
omim:130000	Ehlers-Danlos syndrome, type I	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018235	Smooth Muscle Tumor	C04	Neoplasms
mesh:D019767	Maxillofacial Abnormalities	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018236	Carcinoma, Embryonal	C04	Neoplasms
mesh:D018237	Germinoma	C04	Neoplasms
mesh:D018238	Gonadoblastoma	C04	Neoplasms
mesh:D006849	Hydrocephalus	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018231	Leiomyomatosis	C04	Neoplasms
mesh:D018232	Rhabdomyosarcoma, Alveolar	C04	Neoplasms
mesh:D018233	Rhabdomyosarcoma, Embryonal	C04	Neoplasms
mesh:D018234	Sarcoma, Alveolar Soft Part	C04	Neoplasms
mesh:D018230	Leiomyoma, Epithelioid	C04	Neoplasms
omim:607475	Bothnia retinal dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607476	Newfoundland rod-cone dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:306955	Heterotaxy, X-linked visceral	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D052456	Hypoalphalipoproteinemias	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:191900	Muckle-Wells syndrome	C09; C10; C17; C18; C20; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	C15	Hemic and Lymphatic Diseases
mesh:D050336	Mulibrey Nanism	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000257	Adenoviridae Infections	C02	Virus Diseases
mesh:D010040	Otosclerosis	C09	Otorhinolaryngologic Diseases
mesh:D018267	Carcinoma, Acinar Cell	C04	Neoplasms
mesh:D006816	Huntington Disease	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D010049	Ovarian Diseases	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D018268	Adrenocortical Carcinoma	C04; C19	Neoplasms; Endocrine System Diseases
mesh:D010048	Ovarian Cysts	C04; C13; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D018269	Carcinoma, Endometrioid	C04; C13; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D045823	Ileus	C06	Digestive System Diseases
mesh:D018263	Adenocarcinoma, Follicular	C04	Neoplasms
mesh:D018262	Adenocarcinoma, Clear Cell	C04	Neoplasms
omim:607483	Basal ganglia disease, biotin-responsive	C10	Nervous system Diseases
omim:251110	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:278740	Xeroderma pigmentosum, group E, DDB-negative subtype	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:208550	Asthma and nasal polyps	C08; C20	Respiratory Tract Diseases; Immune System Diseases
omim:607482	Cardiomyopathy, dilated, 1M	C14	Cardiovascular Diseases
omim:607487	Cardiomyopathy, dilated, 1N	C14	Cardiovascular Diseases
omim:607486	Blood group, Knops system	C03; C15	Parasitic Diseases; Hemic and Lymphatic Diseases
omim:604403	Febrile convulsions, familial, 3	C10	Nervous system Diseases
omim:130020	Ehlers-Danlos syndrome, hypermobility type	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D011164	Porphyrias	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:604400	Arrhythmogenic right ventricular dysplasia 5	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:175700	Greig cephalopolysyndactyly syndrome	C05; C16; C23	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D018253	Adenoma, Villous	C04	Neoplasms
mesh:D010034	Otitis Media with Effusion	C09	Otorhinolaryngologic Diseases
omim:210720	Microcephalic osteodysplastic primordial dwarfism, type II	C05; C10; C16; C19	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D010033	Otitis Media	C09	Otorhinolaryngologic Diseases
mesh:D018256	Adenomatous Polyps	C04	Neoplasms
omim:241800	Hypothalamic hamartomas, somatic	C04; C10	Neoplasms; Nervous system Diseases
mesh:D006828	Hydatidiform Mole	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D006819	Hyaline Membrane Disease	C08; C16	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:166220	OI type IV	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:278730	Xeroderma pigmentosum, group D	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:251100	Methylmalonic aciduria, vitamin B12-responsive	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:236270	Homocystinuria-megaloblastic anemia, cbl E type	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to	C10	Nervous system Diseases
omim:607499	Bulimia nervosa, age of onset of weight loss in	C23	Pathological Conditions, Signs and Symptoms
mesh:D012257	Riboflavin Deficiency	C18	Nutritional and Metabolic Diseases
mesh:D010026	Osteosclerosis	C05	Musculoskeletal Diseases
omim:203100	Albinism, oculocutaneous, type IA	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D018289	Carcinoma, Verrucous	C04	Neoplasms
omim:274400	Hypothyroidism, congenital	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D010024	Osteoporosis	C05	Musculoskeletal Diseases
mesh:D018288	Carcinoma, Small Cell	C04	Neoplasms
omim:605909	Parkinson disease 6, early onset	C10	Nervous system Diseases
mesh:D010022	Osteopetrosis	C05	Musculoskeletal Diseases
mesh:D018287	Carcinoma, Large Cell	C04	Neoplasms
mesh:D010023	Osteopoikilosis	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D018286	Carcinoma, Giant Cell	C04	Neoplasms
mesh:D010020	Osteonecrosis	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006871	Hydrophthalmos	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:166210	OI type II	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018284	Cystadenocarcinoma, Serous	C04	Neoplasms
omim:278760	Xeroderma pigmentosum, group F	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D018282	Cystadenocarcinoma, Mucinous	C04	Neoplasms
mesh:D018283	Cystadenocarcinoma, Papillary	C04	Neoplasms
mesh:D018281	Cholangiocarcinoma	C04	Neoplasms
mesh:D010019	Osteomyelitis	C01; C05	Bacterial Infections and Mycoses; Musculoskeletal Diseases
mesh:D018279	Carcinoma, Signet Ring Cell	C04	Neoplasms
mesh:D010016	Osteoma	C04	Neoplasms
mesh:D013313	Stress Disorders, Post-Traumatic	F03	Mental Disorders
mesh:D010018	Osteomalacia	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D018276	Carcinoma, Medullary	C04	Neoplasms
mesh:D018275	Carcinoma, Lobular	C04	Neoplasms
mesh:D018278	Carcinoma, Neuroendocrine	C04	Neoplasms
mesh:D010013	Osteogenesis Imperfecta	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018277	Carcinoma, Mucoepidermoid	C04	Neoplasms
omim:605911	HMG-CoA synthase-2 deficiency	C18	Nutritional and Metabolic Diseases
omim:176860	Thrombophilia due to protein C deficiency, autosomal dominant	C15	Hemic and Lymphatic Diseases
omim:208540	Renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst	C06; C10; C12; C13; C16	Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:278750	Xeroderma pigmentosum, variant type	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D010009	Osteochondrodysplasias	C05	Musculoskeletal Diseases
mesh:D010008	Osteochondritis Dissecans	C05	Musculoskeletal Diseases
omim:130070	Ehlers-Danlos syndrome, progeroid form	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D010003	Osteoarthritis	C05	Musculoskeletal Diseases
mesh:D010001	Osteitis Deformans	C05	Musculoskeletal Diseases
omim:210750	Skin/hair/eye pigmentation 6, blond/brown hair	C17	Skin and Connective Tissue Diseases
mesh:D012279	Rickets	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D010004	Osteoarthropathy, Primary Hypertrophic	C05	Musculoskeletal Diseases
mesh:D052439	Lipid Metabolism Disorders	C18	Nutritional and Metabolic Diseases
mesh:D000210	Acute-Phase Reaction	C23	Pathological Conditions, Signs and Symptoms
omim:604432	Spinocerebellar ataxia-11	C23	Pathological Conditions, Signs and Symptoms
omim:605259	Spinocerebellar ataxia-13	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605253	Neuropathy, congenital hypomyelinating, 1	C10	Nervous system Diseases
mesh:D000208	Acute Disease	C23	Pathological Conditions, Signs and Symptoms
mesh:D016905	Gram-Negative Bacterial Infections	C01	Bacterial Infections and Mycoses
mesh:D016908	Gram-Positive Bacterial Infections	C01	Bacterial Infections and Mycoses
omim:278780	Xeroderma pigmentosum, group G	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D016920	Meningitis, Bacterial	C01; C10	Bacterial Infections and Mycoses; Nervous system Diseases
mesh:D006869	Hydronephrosis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:130060	Ehlers-Danlos syndrome, type VIIA	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D000224	Addison Disease	C19; C20	Endocrine System Diseases; Immune System Diseases
omim:605249	Sebastian syndrome	C15	Hemic and Lymphatic Diseases
mesh:D053098	Hypophosphatemic Rickets, X-Linked Dominant	C05; C12; C13; C16; C18	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D053099	Azotemia	C12; C13; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D016918	Arthritis, Reactive	C01; C05	Bacterial Infections and Mycoses; Musculoskeletal Diseases
mesh:D018290	Cervical Intraepithelial Neoplasia	C04	Neoplasms
mesh:D018291	Cystadenoma, Mucinous	C04	Neoplasms
mesh:D018293	Cystadenoma, Serous	C04	Neoplasms
mesh:D018296	Pilomatrixoma	C04	Neoplasms
omim:250620	3-hydroxyisobutryl-CoA hydrolase deficiency	C16; C18; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:173650	Kindler syndrome	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:601399	Platelet disorder, familial, with associated myeloid malignancy	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:600263	H. pylori infection, susceptibility to	C01; C20	Bacterial Infections and Mycoses; Immune System Diseases
mesh:D003693	Delirium	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:602491	Hyperlipidemia, familial combined, susceptibility to	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002561	Cerebrovascular Disorders	C10; C14	Nervous system Diseases; Cardiovascular Diseases
omim:108770	Atrial standstill	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:111380	Blood group, OK	C15	Hemic and Lymphatic Diseases
omim:114900	Carcinoid tumors, intestinal	C04	Neoplasms
mesh:D004760	Enterocolitis	C06	Digestive System Diseases
omim:307200	Agammaglobulinemia and isolated hormone deficiency	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:601388	Diabetes mellitus, insulin-dependent, susceptibility to	C18; C19; C20	Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System Diseases
omim:601386	Deafness, autosomal recessive 12	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:153300	Yellow nail syndrome	C15; C17; C20	Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D003681	Dehydration	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:601382	Charcot-Marie-Tooth disease, type 4B1	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003680	Deglutition Disorders	C06; C09	Digestive System Diseases; Otorhinolaryngologic Diseases
mesh:D014657	Vasculitis	C14	Cardiovascular Diseases
mesh:D004751	Enteritis	C06	Digestive System Diseases
mesh:D014652	Vascular Diseases	C14	Cardiovascular Diseases
omim:312920	Spastic paraplegia-2	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018192	Lymphangioleiomyomatosis	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:601378	Crisponi syndrome	C01; C05; C10; C16; C23	Bacterial Infections and Mycoses; Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D018197	Hepatoblastoma	C04	Neoplasms
mesh:D018196	Carcinoma, Adenosquamous	C04	Neoplasms
omim:243300	Cholestasis, benign recurrent intrahepatic	C06	Digestive System Diseases
mesh:D018194	Adenomyoma	C04	Neoplasms
omim:146000	Hypochondroplasia	C05	Musculoskeletal Diseases
mesh:D014648	Varicose Veins	C14	Cardiovascular Diseases
mesh:D018198	Mixed Tumor, Malignant	C04	Neoplasms
mesh:D014647	Varicose Ulcer	C14; C17	Cardiovascular Diseases; Skin and Connective Tissue Diseases
mesh:D014646	Varicocele	C12; C14	Male Urogenital Diseases; Cardiovascular Diseases
omim:137600	Iridogoniodysgenesis, type 2	C11	Eye Diseases
mesh:D005833	Genital Neoplasms, Female	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
omim:222448	Donnai-Barrow syndrome	C05; C09; C10; C11; C12; C13; C16; C23; F03	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D002549	Diffuse Cerebral Sclerosis of Schilder	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D002546	Ischemic Attack, Transient	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D006099	Granuloma	C15; C23	Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002547	Cerebral Palsy	C10	Nervous system Diseases
mesh:D002544	Cerebral Infarction	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D002545	Brain Ischemia	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D002543	Cerebral Hemorrhage	C10; C14; C23	Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003677	Deficiency Diseases	C18	Nutritional and Metabolic Diseases
omim:245400	Lactic acidosis, fatal infantile	C18	Nutritional and Metabolic Diseases
omim:601369	Deafness, autosomal dominant 9	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004775	Enuresis	C12; C13; F03	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders
omim:127300	Leri-Weill dyschondrosteosis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002537	Intracranial Arteriosclerosis	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D003668	Pressure Ulcer	C17	Skin and Connective Tissue Diseases
mesh:D002538	Intracranial Arteriovenous Malformations	C10; C14; C16	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002532	Intracranial Aneurysm	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D002534	Hypoxia, Brain	C10	Nervous system Diseases
omim:602459	Deafness, autosomal dominant 15	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:253280	Muscle-eye-brain disease	C05; C10; C11; C16	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002526	Cerebellar Diseases	C10	Nervous system Diseases
mesh:D002524	Cerebellar Ataxia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D034062	Insomnia, Fatal Familial	C10	Nervous system Diseases
omim:212140	Carnitine deficiency, systemic primary	C05; C10; C18	Musculoskeletal Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
omim:602450	Severe combined immunodeficiency, Athabascan type	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D014607	Uveomeningoencephalitic Syndrome	C10; C11; C20	Nervous system Diseases; Eye Diseases; Immune System Diseases
mesh:D014606	Uveitis, Anterior	C11	Eye Diseases
omim:609698	Thyroid hormone metabolism, abnormal	C19	Endocrine System Diseases
omim:603513	Cerebral palsy, spastic, symmetric, autosomal recessive	C10	Nervous system Diseases
omim:108720	Atelostogenesis, type I	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:603516	Spinocerebellar ataxia-10	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:108721	Atelosteogenesis, type III	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:253290	Multiple pterygium syndrome, lethal type	C05; C13; C16	Musculoskeletal Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D050379	Arteriolosclerosis	C14	Cardiovascular Diseases
omim:126600	Doyne honeycomb degeneration of retina	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D014615	Vaccinia	C02	Virus Diseases
omim:602473	Ethylmalonic encephalopathy	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:600202	Dyslexia, susceptibility to, 2	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:602475	Ossification of posterior longitudinal ligament of spine	C05; C17; C23	Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:251120	Methylmalonyl-CoA epimerase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:600204	Epiphyseal dysplasia, multiple, 2	C05	Musculoskeletal Diseases
omim:193700	Arthrogryposis, distal, type 2A	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603528	Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema	C13; C15; C16; C18; C20; C23	Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:600208	Macrothrombocytopenia and progressive sensorineural deafness	C09; C10; C15; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
omim:265800	Pycnodysostosis	C05; C16; C18; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:122880	Craniofacial-deafness-hand syndrome	C05; C09; C10; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D014605	Uveitis	C11	Eye Diseases
mesh:D008796	Metrorrhagia	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:602485	Hyperinsulinemic hypoglycemia, familial, 3	C18	Nutritional and Metabolic Diseases
omim:602482	Axenfeld-Rieger syndrome, type 3	C07; C11; C14; C16	Stomatognathic Diseases; Eye Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:602481	Migraine, familial basilar	C10	Nervous system Diseases
mesh:D009385	Neoplastic Processes	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D009386	Neoplastic Syndromes, Hereditary	C04; C16	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009382	Neoplasms, Unknown Primary	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
omim:300555	Dent disease 2	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:117800	Earwax, wet/dry	NA	Unclassified
mesh:D005891	Gingivitis	C07	Stomatognathic Diseases
omim:300554	Hypophosphatemic rickets	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:300559	Muscle glycogenosis	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003616	Dandy-Walker Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300558	Mental retardation, X-linked 30	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:149200	Bart-Pumphrey syndrome	C09; C10; C16; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:261550	Persistent Mullerian duct syndrome, type I	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:177200	Liddle syndrome	C12; C13; C14; C18; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:606693	Parkinson disease 9	C10	Nervous system Diseases
omim:601317	Deafness, autosomal dominant 11, neurosensory	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601316	Deafness, autosomal dominant 10	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D054463	Trichothiodystrophy Syndromes	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:603543	Limb-mammary syndrome	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D009389	Neovascularization, Pathologic	C23	Pathological Conditions, Signs and Symptoms
omim:610329	Aicardi-Goutieres syndrome 3	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009394	Nephritis, Hereditary	C12; C13; C16; C17	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D009395	Nephritis, Interstitial	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D009396	Wilms Tumor	C04; C12; C13; C16	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:252605	Mucolipidosis III gamma	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009397	Nephrocalcinosis	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
omim:608930	Myasthenic syndrome, fast-channel congenital	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009393	Nephritis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:226730	Epidermolysis bullosa, junctional, with pyloric atresia	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:270970	Spherocytosis, type 3	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005885	Gingival Hyperplasia	C07	Stomatognathic Diseases
omim:162210	Neurofibromatosis, familial spinal	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300539	Nephrogenic syndrome of inappropriate antidiuresis	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
omim:270960	Azoospermia due to perturbations of meiosis	C12; C19	Male Urogenital Diseases; Endocrine System Diseases
omim:261540	Peters-plus syndrome	C05; C11; C16; C18	Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:225060	Ectodermal dysplasia, Margarita Island type	C05; C07; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:603553	Hemophagocytic lymphohistiocytosis, familial, 2	C15	Hemic and Lymphatic Diseases
omim:610313	Cold-induced sweating syndrome 1	C23	Pathological Conditions, Signs and Symptoms
omim:603552	Hemophagocytic lymphohistiocytosis, familial, 4	C15	Hemic and Lymphatic Diseases
mesh:D017624	WAGR Syndrome	C04; C10; C11; C12; C13; C16	Neoplasms; Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020196	Trauma, Nervous System	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D020194	Unverricht-Lundborg Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004701	Endocrine Gland Neoplasms	C04; C19	Neoplasms; Endocrine System Diseases
omim:271245	Spinocerebellar ataxia, infantile-onset	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020191	Myoclonic Epilepsies, Progressive	C10	Nervous system Diseases
mesh:D020192	Lafora Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009364	Neoplasm Recurrence, Local	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D009361	Neoplasm Invasiveness	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D020190	Myoclonic Epilepsy, Juvenile	C10	Nervous system Diseases
mesh:D009362	Neoplasm Metastasis	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D054438	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:112050	Blood group, Wright	C15	Hemic and Lymphatic Diseases
omim:300577	Mental retardation, X-linked-91	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300578	Chromosome xp11.3 deletion syndrome	C10; C11; C16; C23; F03	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:169150	Butterfly dystrophy, retinal	C11	Eye Diseases
omim:602433	Amyotrophic lateral sclerosis 4, juvenile	C10	Nervous system Diseases
omim:608133	Retinitis pigmentosa, digenic	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603563	Spastic paraplegia-8	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009369	Neoplasms	C04	Neoplasms
mesh:D024741	Cardiomyopathy, Hypertrophic, Familial	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:272300	Sulfite oxidase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009373	Neoplasms, Germ Cell and Embryonal	C04	Neoplasms
omim:273395	Tetra-amelia, autosomal recessive	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009375	Neoplasms, Glandular and Epithelial	C04	Neoplasms
omim:261515	D-bifunctional protein deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D054429	Leukemia, Myelomonocytic, Juvenile	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
omim:209500	Atrichia with papular lesions	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D041441	Retinoschisis	C11	Eye Diseases
omim:254770	Myoclonic epilepsy, juvenile, 1	C10	Nervous system Diseases
omim:610333	Aicardi-Goutieres syndrome 4	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D055113	Chronic Periodontitis	C07	Stomatognathic Diseases
mesh:D009377	Multiple Endocrine Neoplasia	C04; C16; C19	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D009378	Neoplasms, Multiple Primary	C04	Neoplasms
omim:606658	Spinocerebellar ataxia 15	C23	Pathological Conditions, Signs and Symptoms
mesh:D020176	Tyrosinemias	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D017600	Neuroectodermal Tumor, Melanotic	C04	Neoplasms
omim:606657	Glaucoma, normal tension, susceptibility to	C11	Eye Diseases
omim:261500	Eosinophil peroxidase deficiency	C07; C15	Stomatognathic Diseases; Hemic and Lymphatic Diseases
mesh:D020961	Lewy Body Disease	C10; F03	Nervous system Diseases; Mental Disorders
omim:608902	Codeine sensitivity	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:141749	Fetal hemoglobin quantitative trait locus 1	NA	Unclassified
omim:300590	Cornelia de Lange syndrome 2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603585	Congenital disorder of glycosylation, type IIf	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:253200	Maroteaux-Lamy syndrome, several forms	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:148190	Keratitis	C11	Eye Diseases
mesh:D020187	REM Sleep Behavior Disorder	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D007984	Leydig Cell Tumor	C04; C12; C19	Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
mesh:D003643	Death	C23	Pathological Conditions, Signs and Symptoms
mesh:D002598	Chagas Cardiomyopathy	C03; C14	Parasitic Diseases; Cardiovascular Diseases
mesh:D020189	Nocturnal Myoclonus Syndrome	C10	Nervous system Diseases
mesh:D003645	Death, Sudden	C23	Pathological Conditions, Signs and Symptoms
omim:136520	Foveal hyperplasia	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606664	Glycine N-methyltransferase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014693	Ventricular Fibrillation	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020181	Sleep Apnea, Obstructive	C08; C10	Respiratory Tract Diseases; Nervous system Diseases
omim:300582	Short stature, idiopathic familial	C05	Musculoskeletal Diseases
mesh:D004714	Endometrial Hyperplasia	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D004715	Endometriosis	C13	Female Urogenital Diseases and Pregnancy Complications
omim:300584	Immunodeficiency, isolated	C20	Immune System Diseases
mesh:D003639	Hearing Loss, Sudden	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:264300	Pseudohermaphroditism, male, with gynecomastia	C12; C13; C16; C17; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases
omim:601349	Microphthalmia, syndromic 8	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005871	Giant Lymph Node Hyperplasia	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D020159	Citrullinemia	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:194470	Dysalbuminemic hyperzincemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003638	Deafness	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020158	Hyperglycinemia, Nonketotic	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003635	De Lange Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005870	Giant Cell Tumors	C04	Neoplasms
mesh:D002583	Uterine Cervical Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D020152	Antithrombin III Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005879	Tourette Syndrome	C10; C16; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
mesh:D020151	Protein C Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004749	Entamoebiasis	C03	Parasitic Diseases
mesh:D005878	Gilbert Disease	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014689	Venous Insufficiency	C14	Cardiovascular Diseases
omim:609628	Majeed syndrome	C01; C05; C15; C16; C17	Bacterial Infections and Mycoses; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:609622	Short QT syndrome-3	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:609621	Short QT syndrome-2	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:609620	Short QT syndrome-1	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007184	Incontinentia Pigmenti	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D034721	Mastocytosis, Systemic	C04	Neoplasms
omim:606688	Prion disease with protracted course	C10	Nervous system Diseases
mesh:D020165	Carbamoyl-Phosphate Synthase I Deficiency Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:225000	Cleft lip/palate ectodermal dysplasia syndrome	C05; C07; C11; C12; C13; C16; C17; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020167	Hyperlysinemias	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609634	Migraine, familial hemiplegic, 3	C10	Nervous system Diseases
mesh:D020163	Ornithine Carbamoyltransferase Deficiency Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020162	Hyperargininemia	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609637	Holoprosencephaly-5	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609638	Epidermolysis bullosa, lethal acantholytic	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:608104	Congenital disorder of glycosylation, type Ih	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020968	Brachial Plexus Neuritis	C10	Nervous system Diseases
mesh:D020964	Embryo Loss	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D020967	Myotonic Disorders	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:606685	Cardiomyopathy, dilated, 1L	C14	Cardiovascular Diseases
mesh:D016080	Arachnoid Cysts	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007172	Erectile Dysfunction	C12; F03	Male Urogenital Diseases; Mental Disorders
omim:249900	Metachromatic leukodystrophy due to SAP-b deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:277380	Methylmalonic aciduria and homocystinuria, cblF type	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:256840	Neuropathy, hereditary sensory, with spastic paraplegia	C10; C16; C20	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D030401	Cytochrome-c Oxidase Deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:274500	Thyroid hormone organification defect IIA	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:309583	Mental retardation, X-linked, Snyder-Robinson type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015479	Leukemia, Myelomonocytic, Acute	C04	Neoplasms
omim:309580	Mental retardation-hypotonic facies syndrome, X-linked	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D015477	Leukemia, Myelomonocytic, Chronic	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
mesh:D007177	Inappropriate ADH Syndrome	C10; C18; C19	Nervous system Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:174700	Polydactyly, preaxial, type IV	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015473	Leukemia, Promyelocytic, Acute	C04	Neoplasms
mesh:D001424	Bacterial Infections	C01	Bacterial Infections and Mycoses
mesh:D015470	Leukemia, Myeloid, Acute	C04	Neoplasms
mesh:D007161	Immunoproliferative Small Intestinal Disease	C04; C06; C15; C20	Neoplasms; Digestive System Diseases; Hemic and Lymphatic Diseases; Immune System Diseases
omim:610283	Cone-rod dystrophy 10	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:233910	Dystonia, DOPA-responsive, with or without hyperphenylalainemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:142330	Hepatic adenoma	C04; C06	Neoplasms; Digestive System Diseases
mesh:D009303	Nasopharyngeal Neoplasms	C04; C07; C09	Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
omim:142335	Fetal hemoglobin quantitative trait locus 5	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:246650	Lipase deficiency, combined	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606617	Left ventricular noncompaction with congenital heart defects	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:204100	Leber congenital amaurosis 2	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015467	Leukemia, Neutrophilic, Chronic	C15	Hemic and Lymphatic Diseases
omim:123000	Craniometaphyseal dysplasia	C05; C07; C10; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D015464	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
mesh:D013494	Supranuclear Palsy, Progressive	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:606612	Muscular dystrophy, congenital, 1C	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610282	Retinitis pigmentosa-35	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020138	Hyperhomocysteinemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001437	Bacteriuria	C01; C12; C13	Bacterial Infections and Mycoses; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:120790	Complement component 4, partial deficiency of	C20	Immune System Diseases
mesh:D015461	Leukemia, Prolymphocytic, T-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:606641	Body mass index	NA	Unclassified
omim:610297	Parkinson disease 13	C10	Nervous system Diseases
mesh:D007153	Immunologic Deficiency Syndromes	C20	Immune System Diseases
omim:605192	Deafness, autosomal dominant 23	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D015459	Leukemia-Lymphoma, Adult T-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D015458	Leukemia, T-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:158300	Trismus-pseudocamptodactyly syndrome	C05; C10; C16; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D011236	Prediabetic State	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D010610	Pharyngeal Neoplasms	C04; C07; C09	Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
omim:608996	Premature ovarian failure 3	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D015451	Leukemia, Lymphocytic, Chronic, B-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D011230	Precancerous Conditions	C04	Neoplasms
mesh:D017599	Neuroectodermal Tumors	C04	Neoplasms
mesh:D016893	Carotid Stenosis	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D016066	Pleural Effusion, Malignant	C04; C08	Neoplasms; Respiratory Tract Diseases
mesh:D016891	Polycystic Kidney, Autosomal Dominant	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:610293	Glycosylphosphatidylinositol deficiency	C10; C14; C23	Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D007154	Immune System Diseases	C20	Immune System Diseases
mesh:D015452	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:608093	Congenital disorder of glycosylation, type Ij	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D011218	Prader-Willi Syndrome	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608099	Muscular dystrophy, limb-girdle, type 2D	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:303700	Blue-cone monochromacy	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:608097	Periventricular heterotopia with microcephaly	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011225	Pre-Eclampsia	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D011226	Pre-Excitation Syndromes	C14	Cardiovascular Diseases
mesh:D015448	Leukemia, B-Cell	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:113500	Brachyolmia type 3	C05	Musculoskeletal Diseases
mesh:D001416	Back Pain	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D051436	Renal Insufficiency, Chronic	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D013471	Sunburn	C17; C21	Skin and Connective Tissue Diseases; Disorders of Environmental Origin
mesh:D051437	Renal Insufficiency	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D017588	Hyperandrogenism	C19	Endocrine System Diseases
mesh:D015440	Leprosy, Lepromatous	C01	Bacterial Infections and Mycoses
omim:309549	Mental retardation, X-linked-9	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608971	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	C20	Immune System Diseases
omim:612783	Immune dysfunction, with T-cell inactivation due to calcium entry defect 2	C20	Immune System Diseases
omim:169100	Char syndrome	C05; C14; C16	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612780	SESAME syndrome	C09; C10; C18; C23; F03	Otorhinolaryngologic Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610233	Hyperostosis-hyperphosphatemia syndrome	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607322	CETP deficiency	C18	Nutritional and Metabolic Diseases
mesh:D015432	Glomerulonephritis, Membranoproliferative	C12; C13; C20	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases
mesh:D015433	Glomerulonephritis, Membranous	C12; C13; C20	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases
omim:607326	Smith-McCort dysplasia	C05	Musculoskeletal Diseases
mesh:D016871	Pasteurellaceae Infections	C01	Bacterial Infections and Mycoses
omim:309541	Mental retardation, X-linked nonspecific	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016878	POEMS Syndrome	C10; C15; C16; C20	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D006008	Glycogen Storage Disease	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006009	Glycogen Storage Disease Type II	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608978	Meacham syndrome	C12; C13; C14; C16; C19; C23	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:608033	Encephalopathy, acute necrotizing 1	C10; C20	Nervous system Diseases; Immune System Diseases
omim:306100	46,xy gonadal dysgenesis, complete, sry-related	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:608983	Cataract, congenital, cerulean type, 3	C11	Eye Diseases
omim:610247	Esophagitis, eosinophilic	C06	Digestive System Diseases
omim:607330	Lathosterolosis	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610244	Spastic paraplegia 33	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:300514	Fanconi anemia, complementation group B	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D001477	Bartter Syndrome	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D017563	Lung Diseases, Interstitial	C08	Respiratory Tract Diseases
mesh:D001478	Basal Cell Nevus Syndrome	C04; C05; C07; C16	Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010190	Pancreatic Neoplasms	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
omim:300510	Ovarian dysgenesis 2	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D017566	Microvascular Angina	C14	Cardiovascular Diseases
mesh:D016883	Diabetic Ketoacidosis	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:607339	Coronary artery disease, resistance to	C23	Pathological Conditions, Signs and Symptoms
mesh:D016884	Polyendocrinopathies, Autoimmune	C19; C20	Endocrine System Diseases; Immune System Diseases
mesh:D017565	Sarcoidosis, Pulmonary	C08; C15	Respiratory Tract Diseases; Hemic and Lymphatic Diseases
omim:300511	Premature ovarian failure	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
mesh:D010195	Pancreatitis	C06	Digestive System Diseases
mesh:D015427	Reperfusion Injury	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:227300	Combined factor V and VIII deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015428	Myocardial Reperfusion Injury	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012327	RNA Virus Infections	C02	Virus Diseases
mesh:D010198	Pancytopenia	C15	Hemic and Lymphatic Diseases
mesh:D016889	Endometrial Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D011248	Pregnancy Complications	C13	Female Urogenital Diseases and Pregnancy Complications
omim:103285	ADULT syndrome	C07; C11; C16; C17	Stomatognathic Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:158330	Mullerian aplasia and hyperandrogenism	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D001471	Barrett Esophagus	C06	Digestive System Diseases
mesh:D019693	Hepatitis, Autoimmune	C06; C20	Digestive System Diseases; Immune System Diseases
omim:186200	Syndactyly, type IV	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610253	Chromosome 9q subtelomeric deletion syndrome	C10; C16; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610250	Spastic paraplegia 31	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:610251	Alcohol sensitivity, acute	NA	Unclassified
omim:610256	Aphakia, congenital primary	C11	Eye Diseases
omim:300523	Allan-Herndon-Dudley syndrome	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D011274	Pregnancy, Tubal	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D001449	Balkan Nephropathy	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D011271	Pregnancy, Ectopic	C13	Female Urogenital Diseases and Pregnancy Complications
omim:608957	CD8 deficiency, familial	C01; C20	Bacterial Infections and Mycoses; Immune System Diseases
mesh:D019698	Hepatitis C, Chronic	C02; C06	Virus Diseases; Digestive System Diseases
mesh:D015418	Optic Atrophies, Hereditary	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015419	Spastic Paraplegia, Hereditary	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:309520	Lujan-Fryns syndrome	C05; C10; C14; C16; C17	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D019694	Hepatitis B, Chronic	C02; C06	Virus Diseases; Digestive System Diseases
mesh:D015417	Hereditary Motor and Sensory Neuropathies	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606606	Short stature, pituitary and cerebellar defects, and small sella turcica	C05	Musculoskeletal Diseases
omim:610269	Bulimia nervosa, susceptibility to, 2	C23	Pathological Conditions, Signs and Symptoms
omim:309510	Partington syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:256850	Giant axonal neuropathy-1	C10	Nervous system Diseases
omim:608056	LDHCP syndrome	C06; C14; C17; C18; C19	Digestive System Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:608053	Fanconi anemia, complementation group I	C18	Nutritional and Metabolic Diseases
mesh:D047868	Pulmonary Sclerosing Hemangioma	C04; C08	Neoplasms; Respiratory Tract Diseases
omim:608051	Macular dystrophy, retinal, 2	C11	Eye Diseases
omim:610265	Deafness, autosomal recessive 67	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:257980	Odontoonychodermal dysplasia	C07; C16; C17; C23	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D017544	Aortic Aneurysm, Abdominal	C14	Cardiovascular Diseases
omim:112010	Blood group, Waldner	C15	Hemic and Lymphatic Diseases
mesh:D017545	Aortic Aneurysm, Thoracic	C14	Cardiovascular Diseases
mesh:D017542	Aneurysm, Ruptured	C14	Cardiovascular Diseases
omim:300534	Mental retardation, X-linked, syndromic, JARID1C-related	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007105	Immune Complex Diseases	C20	Immune System Diseases
mesh:D016098	Gerstmann-Straussler-Scheinker Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607313	Gaze palsy, horizontal, with progressive scoliosis	C05; C10; C11; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:300537	Heterotopia, periventricular, ED variant	C10; C14; C15; C16; C17	Nervous system Diseases; Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:200500	Acheiropody	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608967	Loeys-Dietz syndrome, type 2A	C14	Cardiovascular Diseases
omim:201100	Acrodermatitis enteropathica	C16; C17; C18; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016864	Li-Fraumeni Syndrome	C04; C16; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015408	Gastrinoma	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
mesh:D006934	Hypercalcemia	C18	Nutritional and Metabolic Diseases
mesh:D006932	Hyperbilirubinemia	C23	Pathological Conditions, Signs and Symptoms
mesh:D010673	Pheochromocytoma	C04	Neoplasms
omim:102530	Globozoospermia	C12	Male Urogenital Diseases
mesh:D006938	Hyperlipoproteinemia Type II	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D018149	Glucose Intolerance	C18	Nutritional and Metabolic Diseases
mesh:D006937	Hypercholesterolemia	C18	Nutritional and Metabolic Diseases
mesh:D006044	Goiter, Nodular	C19	Endocrine System Diseases
mesh:D006043	Goiter, Endemic	C19	Endocrine System Diseases
mesh:D000379	Agoraphobia	F03	Mental Disorders
mesh:D006930	Hyperalgesia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011297	Prenatal Exposure Delayed Effects	C13	Female Urogenital Diseases and Pregnancy Complications
omim:160980	Carney complex, type 1	C04; C10; C14; C17; C19	Neoplasms; Nervous system Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
mesh:D042101	Acalculous Cholecystitis	C06	Digestive System Diseases
omim:151210	Platyspondylic lethal skeletal dysplasia, torrance type	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607361	Meckel syndrome, type 3	C05; C06; C10; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006042	Goiter	C19	Endocrine System Diseases
omim:607364	Bartter syndrome, type 3	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:277300	Spondylocostal dysostosis, autosomal recessive, 1	C05	Musculoskeletal Diseases
omim:164280	Feingold syndrome	C05; C06; C16; C23	Musculoskeletal Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D006929	Hyperaldosteronism	C19	Endocrine System Diseases
omim:309500	Renpenning syndrome	C05; C10; C16; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D011289	Preleukemia	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
mesh:D000380	Agranulocytosis	C15	Hemic and Lymphatic Diseases
mesh:D006943	Hyperglycemia	C18	Nutritional and Metabolic Diseases
mesh:D006942	Hypergammaglobulinemia	C15; C20; C23	Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006947	Hyperkalemia	C18	Nutritional and Metabolic Diseases
mesh:D016849	Keratitis, Herpetic	C02; C11	Virus Diseases; Eye Diseases
mesh:D010688	Phimosis	C12	Male Urogenital Diseases
mesh:D006946	Hyperinsulinism	C18	Nutritional and Metabolic Diseases
mesh:D000382	Agricultural Workers' Diseases	C21	Disorders of Environmental Origin
mesh:D006949	Hyperlipidemias	C18	Nutritional and Metabolic Diseases
mesh:D000386	AIDS-Related Complex	C02; C20	Virus Diseases; Immune System Diseases
omim:133200	Erythrokeratodermia variabilis with erythema gyratum repens	C17	Skin and Connective Tissue Diseases
mesh:D006940	Hyperemia	C14	Cardiovascular Diseases
omim:607371	Dystonia, juvenile-onset	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006030	Glycosuria, Renal	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006939	Hyperemesis Gravidarum	C13; C23	Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
mesh:D006958	Hyperostosis, Cortical, Congenital	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006956	Hyperopia	C11	Eye Diseases
mesh:D001480	Basal Ganglia Diseases	C10	Nervous system Diseases
mesh:D006954	Hyperlipoproteinemia Type V	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006953	Hyperlipoproteinemia Type IV	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000357	African Swine Fever	C02; C22	Virus Diseases; Animal Diseases
mesh:D006952	Hyperlipoproteinemia Type III	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006951	Hyperlipoproteinemias	C18	Nutritional and Metabolic Diseases
mesh:D006950	Hyperlipidemia, Familial Combined	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:605115	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	C14	Cardiovascular Diseases
mesh:D010182	Pancreatic Diseases	C06	Digestive System Diseases
omim:604537	Leber congenital amaurosis 5	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:604536	Ectodermal dysplasia/skin fragility syndrome	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:607341	Focal cortical dysplasia, Taylor balloon cell type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:245480	Specific granule deficiency	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:121800	Corneal dystrophy, crystalline, of Schnyder	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006969	Hypersensitivity, Immediate	C20	Immune System Diseases
omim:121820	Corneal dystrophy, epithelial basement membrane	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:145650	Thyroid hromone resistance, selective pituitary	C19	Endocrine System Diseases
mesh:D000361	Agammaglobulinemia	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D006965	Hyperplasia	C23	Pathological Conditions, Signs and Symptoms
mesh:D006967	Hypersensitivity	C20	Immune System Diseases
mesh:D006966	Hyperprolactinemia	C10; C19	Nervous system Diseases; Endocrine System Diseases
mesh:D006961	Hyperparathyroidism	C19	Endocrine System Diseases
mesh:D025861	Blood Coagulation Disorders, Inherited	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006015	Glycogen Storage Disease Type VIII	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006960	Hyperoxaluria, Primary	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006014	Glycogen Storage Disease Type VII	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006963	Hyperphagia	C23	Pathological Conditions, Signs and Symptoms
mesh:D006962	Hyperparathyroidism, Secondary	C19	Endocrine System Diseases
mesh:D006011	Glycogen Storage Disease Type IV	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006010	Glycogen Storage Disease Type III	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006013	Glycogen Storage Disease Type VI	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006012	Glycogen Storage Disease Type V	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:251200	Microcephaly, autosomal recessive 1	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:105400	Amyotrophic lateral sclerosis, due to SOD1 deficiency	C10	Nervous system Diseases
omim:188550	Thyroid carcinoma, papillary	C04; C19	Neoplasms; Endocrine System Diseases
omim:219000	Fraser syndrome	C05; C11; C13; C16; C17; C23	Musculoskeletal Diseases; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D019636	Neurodegenerative Diseases	C10	Nervous system Diseases
mesh:D052556	Niemann-Pick Disease, Type C	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006973	Hypertension	C14	Cardiovascular Diseases
mesh:D006974	Hypertension, Malignant	C14	Cardiovascular Diseases
mesh:D006972	Hypertelorism	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006977	Hypertension, Renal	C12; C13; C14	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
mesh:D006978	Hypertension, Renovascular	C12; C13; C14	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
omim:249270	Thiamine-responsive megaloblastic anemia syndrome	C09; C10; C15; C18; C19; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006975	Hypertension, Portal	C06	Digestive System Diseases
mesh:D006976	Hypertension, Pulmonary	C08	Respiratory Tract Diseases
mesh:D006086	Graft vs Host Disease	C20	Immune System Diseases
omim:173600	Pneumothorax, primary spontaneous	C08; C18	Respiratory Tract Diseases; Nutritional and Metabolic Diseases
mesh:D006980	Hyperthyroidism	C19	Endocrine System Diseases
mesh:D006981	Hyperthyroxinemia	C19	Endocrine System Diseases
omim:604563	Charcot-Marie-Tooth disease, type 4B2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006983	Hypertrichosis	C17	Skin and Connective Tissue Diseases
mesh:D000347	Afibrinogenemia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006984	Hypertrophy	C23	Pathological Conditions, Signs and Symptoms
mesh:D046351	Protoporphyria, Erythropoietic	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D006073	Gout	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D046350	Porphyria, Variegate	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D000314	Adrenal Rest Tumor	C04	Neoplasms
mesh:D006995	Hypobetalipoproteinemias	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006996	Hypocalcemia	C18	Nutritional and Metabolic Diseases
mesh:D052536	Niemann-Pick Disease, Type A	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D052537	Niemann-Pick Disease, Type B	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D006994	Hypoaldosteronism	C19	Endocrine System Diseases
mesh:D000310	Adrenal Gland Neoplasms	C04; C19	Neoplasms; Endocrine System Diseases
mesh:D000312	Adrenal Hyperplasia, Congenital	C16; C18; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D010149	Pain, Postoperative	C23	Pathological Conditions, Signs and Symptoms
mesh:D010145	Paget's Disease, Extramammary	C04	Neoplasms
mesh:D010146	Pain	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:121850	Corneal fleck dystrophy	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:147891	Small patella syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:192315	Vasculopathy, retinal, with cerebral leukodystrophy	C10; C11; C12; C13; C14	Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
omim:191830	Renal adysplasia	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:266300	UV-induced skin damage	C17	Skin and Connective Tissue Diseases
omim:143870	Hypercalciuria, absorptive, susceptibility to	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
mesh:D046349	Coproporphyria, Hereditary	C06; C16; C17; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:258100	Oguchi disease-1	C11	Eye Diseases
mesh:D006061	Gonadal Dysgenesis, 46,XY	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D000306	Adrenal Cortex Neoplasms	C04; C19	Neoplasms; Endocrine System Diseases
omim:604571	Bare lymphocyte syndrome, type I	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D000309	Adrenal Insufficiency	C19	Endocrine System Diseases
mesh:D006059	Gonadal Dysgenesis	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D000326	Adrenoleukodystrophy	C10; C16; C18; C19	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:203800	Alstrom syndrome	C09; C10; C11; C18; C19; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018159	Endolymphatic Hydrops	C09	Otorhinolaryngologic Diseases
omim:116200	Cataract, zonular pulverulent-1	C11	Eye Diseases
mesh:D010661	Phenylketonurias	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607398	Glucocorticoid deficiency 2	C19	Endocrine System Diseases
mesh:D005911	Gliosis	C23	Pathological Conditions, Signs and Symptoms
mesh:D005910	Glioma	C04	Neoplasms
omim:312870	Simpson-Golabi-Behmel syndrome, type 1	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:270300	Peeling skin syndrome	C17	Skin and Connective Tissue Diseases
omim:252010	Complex I, mitochondrial respiratory chain, deficiency of	C05; C06; C10; C11; C14; C16; C18	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Eye Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005909	Glioblastoma	C04	Neoplasms
omim:252011	Mitochondrial complex II deficiency	C10; C14; C16; C18	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:153670	Bernard-Soulier syndrome, benign autosomal dominant	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:272460	Spondylocarpotarsal synostosis syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005902	Glaucoma, Open-Angle	C11	Eye Diseases
mesh:D005901	Glaucoma	C11	Eye Diseases
omim:126700	Basal laminar drusen	C11	Eye Diseases
omim:257300	Mosaic variegated aneuploidy syndrome	C23	Pathological Conditions, Signs and Symptoms
omim:143470	Hyperalphalipoproteinemia	C18	Nutritional and Metabolic Diseases
omim:603896	Leukoencephalopathy with vanishing white matter	C10; C13; C19; C23	Nervous system Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:609352	Epidermolysis bullosa simplex with migratory circinate erythema	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D014947	Wounds and Injuries	C21	Disorders of Environmental Origin
omim:188580	Thyrotoxic periodic paralysis, susceptibility to	C05; C10; C11; C16; C18; C19; C20	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System Diseases
omim:148700	Keratosis palmoplantaris striata I	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D012893	Sleep Disorders	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D014983	Xeroderma Pigmentosum	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D004443	Echinococcosis	C03	Parasitic Diseases
mesh:D012891	Sleep Apnea Syndromes	C08; C10	Respiratory Tract Diseases; Nervous system Diseases
mesh:D012892	Sleep Deprivation	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:600105	Retinitis pigmentosa-12, autosomal recessive	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:242860	Immunodeficiency-centromeric instability-facial anomalies syndrome	C05; C16; C20	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:312060	Properdin deficiency, X-linked	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:243400	Acetylation, slow	C18	Nutritional and Metabolic Diseases
omim:600101	Deafness, autosomal dominant 2A	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:603860	Medullary cystic kidney disease 2	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:203750	Alpha-methylacetoacetic aciduria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014973	Xanthomatosis	C18	Nutritional and Metabolic Diseases
omim:129400	Orofacial cleft 8	C05; C07; C16; C17	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:609338	Carotid intimal medial thickness 1	C14	Cardiovascular Diseases
omim:161000	Naegeli-Franceschetti-Jadassohn syndrome	C07; C16; C17	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:257320	Lissencephaly syndrome, Norman-Roberts type	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:168500	Parietal foramina 1	C05	Musculoskeletal Diseases
omim:602347	Cholestasis, progressive familial intrahepatic 3	C06	Digestive System Diseases
mesh:D006562	Herpes Zoster	C02	Virus Diseases
mesh:D006561	Herpes Simplex	C02; C17	Virus Diseases; Skin and Connective Tissue Diseases
mesh:D004422	Dystonia Musculorum Deformans	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004421	Dystonia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:609304	Epilepsy, neonatal myoclonic, with suppression-burst pattern	C10	Nervous system Diseases
omim:609307	Spinocerebellar ataxia-27	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610618	Angioedema, hereditary, type III	C14; C16; C17; C20	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
omim:609308	Muscular dystrophy, limb-girdle, type 2K	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005955	Glucosephosphate Dehydrogenase Deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:602390	Hemochromatosis, juvenile	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005953	Glycogen Storage Disease Type I	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:600121	Rhizomelic chondrodysplasia punctata, type 3	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610628	Kallmann syndrome 4	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:602398	Desmosterolosis	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610623	Cataract, posterior polar, 4	C11	Eye Diseases
omim:607196	Microcephaly, Amish type	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:225320	Ehlers-Danlos syndrome, cardiac valvular form	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D039682	HIV-Associated Lipodystrophy Syndrome	C02; C17; C18; C20	Virus Diseases; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D004410	Dyslexia	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D006552	Hernia, Inguinal	C23	Pathological Conditions, Signs and Symptoms
mesh:D006554	Hernia, Umbilical	C16; C23	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D006556	Heroin Dependence	C21; F03	Disorders of Environmental Origin; Mental Disorders
mesh:D003784	Dental Pulp Calcification	C07	Stomatognathic Diseases
mesh:D004418	Dyspnea, Paroxysmal	C08; C14; C23	Respiratory Tract Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D006559	Pemphigoid Gestationis	C13; C17	Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
mesh:D004416	Dysplastic Nevus Syndrome	C04; C16	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004415	Dyspepsia	C23	Pathological Conditions, Signs and Symptoms
mesh:D004413	Dysostoses	C05	Musculoskeletal Diseases
mesh:D004412	Dysmenorrhea	C23	Pathological Conditions, Signs and Symptoms
omim:600110	Macular dystrophy, autosomal dominant, chromosome 6-linked	C11	Eye Diseases
omim:153640	Fechtner syndrome	C12; C13; C15; C16; C17	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:610612	Leber congenital amaurosis 12	C10; C11; C16; C18	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609311	Charcot-Marie-Tooth disease, type 4H	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:218000	Agenesis of the corpus callosum with peripheral neuropathy	C10; C16; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:600116	Parkinson disease, juvenile, type 2	C10	Nervous system Diseases
omim:600118	Warburg micro syndrome 1	C05; C10; C11; C16; C19; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D021782	Multicystic Dysplastic Kidney	C12; C13; C16	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004402	Dysautonomia, Familial	C10; C16; C20	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D004401	Dysarthria	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D004404	Dysentery, Amebic	C03; C06	Parasitic Diseases; Digestive System Diseases
mesh:D004406	Dysgammaglobulinemia	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D004405	Dysentery, Bacillary	C01; C06	Bacterial Infections and Mycoses; Digestive System Diseases
mesh:D006548	Hernia, Diaphragmatic	C23	Pathological Conditions, Signs and Symptoms
mesh:D004407	Dysgerminoma	C04	Neoplasms
mesh:D005935	Glucagonoma	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
omim:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005929	Glossitis, Benign Migratory	C07	Stomatognathic Diseases
omim:153650	Epstein syndrome	C09; C10; C12; C13; C15; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and Symptoms
omim:600145	Caudal regression syndrome	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600143	Ceroid lipofuscinosis, neuronal 8	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:168550	Parietal foramina with cleidocranial dysplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:193230	Snowflake vitreoretinal degeneration	C11	Eye Diseases
omim:205100	Amyotrophic lateral sclerosis, juvenile	C10	Nervous system Diseases
mesh:D005921	Glomerulonephritis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D005922	Glomerulonephritis, IGA	C12; C13; C20	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases
omim:117000	Central core disease	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D005923	Glomerulosclerosis, Focal Segmental	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:231900	Hemolytic anemia due to glutathione synthetase deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005925	Glomus Jugulare Tumor	C04	Neoplasms
omim:580000	Deafness, mitochondrial, modifier of	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D005918	Glomus Tumor	C04	Neoplasms
omim:603830	Long QT syndrome-3	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:600132	Retinitis pigmentosa-14	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600138	Retinitis pigmentosa-11	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:301200	Amelogenesis imperfecta, hypoplastic/hypomaturation type	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054364	Solitary Fibrous Tumors	C04	Neoplasms
omim:601696	Novelty seeking personality	F03	Mental Disorders
omim:120330	Optic nerve coloboma with renal disease	C11; C12; C13; C16	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300497	Asperger syndrome, susceptibility to, X-linked-2	F03	Mental Disorders
omim:300496	Autism, susceptibility to, X-linked-3	F03	Mental Disorders
mesh:D015009	Yersinia Infections	C01	Bacterial Infections and Mycoses
mesh:D020271	Heredodegenerative Disorders, Nervous System	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020270	Alcohol Withdrawal Seizures	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
omim:300494	Asperger syndrome, susceptibility to, X-linked-1	F03	Mental Disorders
omim:137920	Renal cysts and diabetes syndrome	C12; C13; C18; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D011304	Presbycusis	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	C10	Nervous system Diseases
mesh:D020277	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating	C10; C20	Nervous system Diseases; Immune System Diseases
mesh:D020275	Guillain-Barre Syndrome	C10; C20	Nervous system Diseases; Immune System Diseases
omim:300498	Mental retardation, X-linked 45	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610651	Xeroderma pigmentosum, group B	C04; C16; C17; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:269000	SC phocomelia syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600155	Hirschsprung disease-2	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:218040	Costello syndrome	C05; C10; C14; C16; C18; C19; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D048550	Hepatic Insufficiency	C06	Digestive System Diseases
omim:601680	Arthrogryposis multiplex congenita, distal, type 2B	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:162500	Neuropathy, recurrent, with pressure palsies	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020288	Papilloma, Choroid Plexus	C04; C10	Neoplasms; Nervous system Diseases
mesh:D003744	Dental Enamel Hypoplasia	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001506	Beckwith-Wiedemann Syndrome	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:262190	Rabson-Mendenhall syndrome	C10; C16; C18; C19	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:610644	Palmoplantar hyperkeratosis and true hermaphroditism	C04; C12; C13; C16; C17; C19; F03	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases; Mental Disorders
mesh:D020294	Myasthenic Syndromes, Congenital	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia	C05; C07; C10; C11; C16; C23; F03	Musculoskeletal Diseases; Stomatognathic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D005067	Euthyroid Sick Syndromes	C19	Endocrine System Diseases
omim:300476	Cone-rod dystrophy, X-linked, 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608203	Neutrophil immunodeficiency syndrome	C20	Immune System Diseases
omim:231950	Glutathionuria	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:610629	Diamond-blackfan anemia	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018500	Diabetes Insipidus, Nephrogenic	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D005076	Exanthema	C17	Skin and Connective Tissue Diseases
omim:271700	Spondyloperipheral dysplasia	C05	Musculoskeletal Diseases
omim:612518	Ciliary dyskinesia, primary, 10	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D003715	Dengue	C02	Virus Diseases
mesh:D003711	Demyelinating Diseases	C10	Nervous system Diseases
mesh:D015043	Zollinger-Ellison Syndrome	C04; C06	Neoplasms; Digestive System Diseases
omim:108120	Arthrogryposis multiplex congenita, distal, type 1	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300455	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	C01; C08; C09; C10; C11; C16; C23	Bacterial Infections and Mycoses; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D009497	Neurotic Disorders	F03	Mental Disorders
omim:612527	Diamond-Blackfan anemia 4	NA	Unclassified
omim:612526	Lipodystrophy, congenital generalized, type 3	C17; C18	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:610698	Macular degeneration, age-related, 4	C11	Eye Diseases
omim:612528	Diamond-Blackfan anemia 5	NA	Unclassified
mesh:D005096	Exostoses	C05	Musculoskeletal Diseases
mesh:D054312	Buruli Ulcer	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
omim:612522	Diabetes mellitus, insulin-dependent, 22	NA	Unclassified
omim:300448	Alpha-thalassemia myelodysplasia syndrome, somatic	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003704	Dementia	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D005097	Exostoses, Multiple Hereditary	C04; C05; C16	Neoplasms; Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600195	Venous malformations, multiple cutaneous and mucosal	C14; C17	Cardiovascular Diseases; Skin and Connective Tissue Diseases
omim:608233	Hermansky-Pudlak syndrome 2	C11; C15; C16; C17; C18	Eye Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:608236	Slowed nerve conduction velocity, AD	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610688	Joubert syndrome 6	C08; C10; C11; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610687	Nemaline myopathy 7	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D002280	Carcinoma, Basal Cell	C04	Neoplasms
omim:610682	Osteogenesis imperfecta, type VII	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D003728	Dental Calculus	C07; C23	Stomatognathic Diseases; Pathological Conditions, Signs and Symptoms
omim:154780	Marshall syndrome	C05; C09; C10; C11; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:601678	Bartter syndrome, type 1	C12; C13; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:300434	Stocco dos Santos X-linked mental retardation syndrome	C05; C10; C16; C21	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disorders of Environmental Origin
mesh:D002289	Carcinoma, Non-Small-Cell Lung	C04; C08	Neoplasms; Respiratory Tract Diseases
omim:300432	Epilepsy, myoclonic, with mental retardation and spasticity	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300438	2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D053206	Nocturnal Enuresis	C12; C13; F03	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders
omim:300436	Mental retardation, X-linked nonspecific, type 46	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:272430	Cold-induced sweating syndrome	C23	Pathological Conditions, Signs and Symptoms
mesh:D002282	Adenocarcinoma, Bronchiolo-Alveolar	C04	Neoplasms
mesh:D002283	Carcinoma, Bronchogenic	C04; C08	Neoplasms; Respiratory Tract Diseases
mesh:D002285	Carcinoma, Intraductal, Noninfiltrating	C04	Neoplasms
mesh:D002286	Carcinoma, Ehrlich Tumor	C04	Neoplasms
mesh:D002288	Adenocarcinoma, Mucinous	C04	Neoplasms
omim:610678	Combined oxidative phosphorylation deficiency 4	C05; C10; C18	Musculoskeletal Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
omim:300419	Mental retardation, X-linked 36/43/54	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D047928	Premature Birth	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D054331	Sertoli Cell-Only Syndrome	C12	Male Urogenital Diseases
omim:300422	FG syndrome 4	C05; C06; C10; C16; C23; F03	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:300423	Mental retardation, X-linked, with epilepsy	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002278	Carcinoma in Situ	C04	Neoplasms
omim:300425	Autism, susceptibility to, X-linked-1	C10; F03	Nervous system Diseases; Mental Disorders
omim:131440	Myeloproliferative disorder with eosinophilia	C04; C15	Neoplasms; Hemic and Lymphatic Diseases
mesh:D002276	Carcinoid Tumor	C04	Neoplasms
mesh:D002277	Carcinoma	C04	Neoplasms
mesh:D000033	Abortion, Threatened	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D000030	Abortion, Missed	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D019578	Multiple System Atrophy	C10	Nervous system Diseases
mesh:D019575	Blindness, Cortical	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002178	Candidiasis, Chronic Mucocutaneous	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
omim:260000	Hyperoxaluria, primary, type II	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002177	Candidiasis	C01	Bacterial Infections and Mycoses
mesh:D018442	Lymphoma, B-Cell, Marginal Zone	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D007239	Infection	C01	Bacterial Infections and Mycoses
mesh:D007238	Infarction	C23	Pathological Conditions, Signs and Symptoms
mesh:D002179	Candidiasis, Cutaneous	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
omim:606966	Nephronophthisis 4	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D000038	Abscess	C01; C23	Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms
omim:132000	EBD, Bart type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D000037	Abruptio Placentae	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D011391	Prolapse	C23	Pathological Conditions, Signs and Symptoms
mesh:D000860	Anoxia	C23	Pathological Conditions, Signs and Symptoms
omim:612446	C6 deficiency	C20	Immune System Diseases
omim:612443	Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia	C10; C16; C18; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:132900	Aortic aneurysm, familial thoracic 4	C14	Cardiovascular Diseases
omim:612444	Ciliary dyskinesia, primary, 9, with our without situs inversus	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D000856	Anorexia Nervosa	F03	Mental Disorders
omim:608180	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009459	Neuroleptic Malignant Syndrome	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
omim:608189	Tropical calcific pancreatitis	C06	Digestive System Diseases
mesh:D010927	Placental Insufficiency	C13	Female Urogenital Diseases and Pregnancy Complications
omim:256500	Netherton syndrome	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D019571	Arrhythmogenic Right Ventricular Dysplasia	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009455	Neurofibroma	C04; C10	Neoplasms; Nervous system Diseases
mesh:D009456	Neurofibromatosis 1	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010922	Placenta Diseases	C13	Female Urogenital Diseases and Pregnancy Complications
omim:612447	Skeletal defects, genital hypoplasia, and mental retardation	C05; C10; C12; C13; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D030342	Genetic Diseases, Inborn	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010921	Placenta Accreta	C13	Female Urogenital Diseases and Pregnancy Complications
omim:277000	Rokitansky-kuster-hauser syndrome	C13; C16	Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000853	Anophthalmos	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000855	Anorexia	C23	Pathological Conditions, Signs and Symptoms
omim:604625	Tooth agenesis, selective, 3	C05	Musculoskeletal Diseases
omim:606952	Albinism, oculocutaneous, type IB	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:186570	Tarsal-carpal coalition syndrome	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000848	Anodontia	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:305620	Frontometaphyseal dysplasia	NA	Unclassified
mesh:D009447	Neuroblastoma	C04	Neoplasms
mesh:D009442	Neurilemmoma	C04; C10	Neoplasms; Nervous system Diseases
mesh:D002181	Candidiasis, Vulvovaginal	C01; C13	Bacterial Infections and Mycoses; Female Urogenital Diseases and Pregnancy Complications
omim:612437	Epilepsy, progressive myoclonic 1B	C10	Nervous system Diseases
omim:608175	Autoimmune thyroid disease, susceptibility to 3	C19; C20	Endocrine System Diseases; Immune System Diseases
mesh:D000051	Acantholysis	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D011378	Prognathism	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D019595	Dengue Hemorrhagic Fever	C02	Virus Diseases
mesh:D009472	Neuronal Ceroid-Lipofuscinoses	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D009471	Neuromyelitis Optica	C10; C11; C20	Nervous system Diseases; Eye Diseases; Immune System Diseases
mesh:D000052	Acanthosis Nigricans	C17	Skin and Connective Tissue Diseases
omim:605724	Fanconi anemia, complementation group D1	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606159	Basal ganglia disease, adult-onset	C10	Nervous system Diseases
mesh:D000844	Ankylosis	C05	Musculoskeletal Diseases
omim:112100	Blood group, Yt system	C15	Hemic and Lymphatic Diseases
omim:606943	Usher syndrome, type 1G	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D011371	Progeria	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:601744	Systemic lupus erythematosus, resistance to	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D007251	Influenza, Human	C02; C08	Virus Diseases; Respiratory Tract Diseases
omim:607200	Hypothyroidism, congenital, due to DUOX2 deficiency	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:612423	Fletcher factor deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:180500	Axenfeld-Rieger syndrome, type 1	C05; C06; C07; C10; C11; C16; C23	Musculoskeletal Diseases; Digestive System Diseases; Stomatognathic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:608161	Foveomacular dystrophy, adult-onset, with choroidal neovascularization	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612421	Alopecia, androgenetic, 3; aga3	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:612422	Cardiomyopathy, familial restrictive, 3	C14	Cardiovascular Diseases
mesh:D020217	Vertebral Artery Dissection	C10; C14; C21	Nervous system Diseases; Cardiovascular Diseases; Disorders of Environmental Origin
mesh:D009477	Hereditary Sensory and Autonomic Neuropathies	C10; C16; C20	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
omim:121900	Corneal dystrophy, Groenouw type I	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:241600	Hypoproteinemia, hypercatabolic	C15	Hemic and Lymphatic Diseases
mesh:D030321	Denys-Drash Syndrome	C04; C12; C13; C16	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610599	Retinitis pigmentosa-36	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D019584	Hot Flashes	C23	Pathological Conditions, Signs and Symptoms
mesh:D019586	Intracranial Hypertension	C10	Nervous system Diseases
mesh:D019588	Aging, Premature	C23	Pathological Conditions, Signs and Symptoms
mesh:D009461	Neurologic Manifestations	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009463	Neuroma	C04	Neoplasms
mesh:D018455	Protein S Deficiency	C15	Hemic and Lymphatic Diseases
omim:123320	Creatine phosphokinase, elevated serum	C05; C10; C16; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020215	Carotid Artery, Internal, Dissection	C10; C14; C21	Nervous system Diseases; Cardiovascular Diseases; Disorders of Environmental Origin
mesh:D018459	Lichen Sclerosus et Atrophicus	C17	Skin and Connective Tissue Diseases
mesh:D007244	Infectious Mononucleosis	C02; C15; C20	Virus Diseases; Hemic and Lymphatic Diseases; Immune System Diseases
omim:313900	Thrombocytopenia, X-linked	C15	Hemic and Lymphatic Diseases
mesh:D007247	Infertility, Female	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D017204	Angelman Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D007246	Infertility	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:152427	Acquired long QT syndrome, reduced susceptibility to	C14; C16; C23	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D007249	Inflammation	C23	Pathological Conditions, Signs and Symptoms
mesh:D007248	Infertility, Male	C12	Male Urogenital Diseases
mesh:D017202	Myocardial Ischemia	C14	Cardiovascular Diseases
omim:303400	Cleft palate with ankyloglossia	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:152430	Longevity 1	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009464	Neuroma, Acoustic	C04; C09; C10	Neoplasms; Otorhinolaryngologic Diseases; Nervous system Diseases
mesh:D010911	Pituitary Neoplasms	C04; C10; C19	Neoplasms; Nervous system Diseases; Endocrine System Diseases
omim:612416	Factor XI deficiency, autosomal dominant	NA	Unclassified
mesh:D009468	Neuromuscular Diseases	C10	Nervous system Diseases
mesh:D018450	Disease Progression	C23	Pathological Conditions, Signs and Symptoms
mesh:D001523	Mental Disorders	F03	Mental Disorders
mesh:D013580	Synostosis	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017237	Mitochondrial Encephalomyopathies	C05; C10; C18	Musculoskeletal Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
mesh:D013584	Sarcoma, Synovial	C04	Neoplasms
mesh:D013585	Synovitis	C05	Musculoskeletal Diseases
mesh:D020246	Venous Thrombosis	C14	Cardiovascular Diseases
mesh:D013586	Synovitis, Pigmented Villonodular	C05	Musculoskeletal Diseases
omim:274600	Pendred syndrome	C05; C07; C09; C10; C16; C19; C23	Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
mesh:D009410	Nerve Degeneration	C23	Pathological Conditions, Signs and Symptoms
omim:267750	Knobloch syndrome, type 1	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606176	Diabetes mellitus, permanent neonatal	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D013595	Syringomyelia	C10	Nervous system Diseases
omim:606996	Senior-Loken syndrome 4	C11; C12; C13; C16	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:147250	Solitary median maxillary central incisor	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010981	Platelet Storage Pool Deficiency	C15	Hemic and Lymphatic Diseases
mesh:D009402	Nephrosis, Lipoid	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D009404	Nephrotic Syndrome	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D009401	Nephrosis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D009400	Nephrosclerosis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D016171	Torsades de Pointes	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020227	Lateral Sinus Thrombosis	C10; C14	Nervous system Diseases; Cardiovascular Diseases
omim:612479	Macular degeneration, age-related, 1; armd1	C11	Eye Diseases
mesh:D001528	Behcet Syndrome	C07; C11; C14; C17	Stomatognathic Diseases; Eye Diseases; Cardiovascular Diseases; Skin and Connective Tissue Diseases
mesh:D017253	Neurofibromatoses	C04; C10; C16	Neoplasms; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020269	Alcoholic Neuropathy	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D000881	Anthrax	C01	Bacterial Infections and Mycoses
omim:180550	Ring dermoid of cornea	C04; C11	Neoplasms; Eye Diseases
omim:201250	Acromesomelic dysplasia, Hunter-Thompson type	C05	Musculoskeletal Diseases
mesh:D020261	Arsenic Poisoning	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
omim:124500	Vohwinkel syndrome	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018424	Cholesteatoma, Middle Ear	C09; C17	Otorhinolaryngologic Diseases; Skin and Connective Tissue Diseases
omim:275100	Hypothryoidism, congenital, nongoitrous 4	C19	Endocrine System Diseases
omim:612469	WAGRO syndrome	C04; C10; C11; C12; C13; C16; C18; C23; F03	Neoplasms; Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D009436	Neural Tube Defects	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:246300	Leprosy, protection against	C01	Bacterial Infections and Mycoses
omim:612463	Pseudopseudohypoparathyroidism; pphp	NA	Unclassified
omim:601706	Yemenite deaf-blind hypopigmentation syndrome	C09; C10; C11; C17; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:601705	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	C17; C20; C23	Skin and Connective Tissue Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:186580	Blau syndrome	C05; C10; C11	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases
mesh:D017250	Caliciviridae Infections	C02	Virus Diseases
mesh:D020256	Choroidal Neovascularization	C11; C23	Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D017243	MERRF Syndrome	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:174810	Osteolysis, familial expansile	C05	Musculoskeletal Diseases
mesh:D017241	MELAS Syndrome	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:107480	Townes-Brocks branchiootorenal-like syndrome	C05; C06; C09; C10; C16; C23	Musculoskeletal Diseases; Digestive System Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D017246	Ophthalmoplegia, Chronic Progressive External	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:120430	Coloboma of optic nerve	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018410	Pneumonia, Bacterial	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
mesh:D020250	Postoperative Nausea and Vomiting	C23	Pathological Conditions, Signs and Symptoms
mesh:D012008	Recurrence	C23	Pathological Conditions, Signs and Symptoms
mesh:D012005	Rectal Prolapse	C06	Digestive System Diseases
mesh:D012004	Rectal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D010954	Plasmacytoma	C04; C20	Neoplasms; Immune System Diseases
mesh:D009421	Nervous System Malformations	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009423	Nervous System Neoplasms	C04; C10	Neoplasms; Nervous system Diseases
mesh:D009422	Nervous System Diseases	C10	Nervous system Diseases
omim:119900	Digital clubbing, isolated congenital	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:608194	Cone-rod dystrophy 13	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D017240	Mitochondrial Myopathies	C05; C10; C18	Musculoskeletal Diseases; Nervous system Diseases; Nutritional and Metabolic Diseases
omim:601718	Retinitis pigmentosa-19	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605041	Brooke-Spiegler syndrome	C04	Neoplasms
omim:603933	Microvascular complications of diabetes 1	C19	Endocrine System Diseases
omim:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	C14; C15	Cardiovascular Diseases; Hemic and Lymphatic Diseases
omim:150250	Larsen syndrome	C05; C21	Musculoskeletal Diseases; Disorders of Environmental Origin
omim:309801	Microphthalmia, syndromic 7	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603932	Intervertebral disc disease, susceptibility to	C05	Musculoskeletal Diseases
omim:229600	Fructose intolerance	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:145980	Hypocalciuric hypercalcemia, type I	C16; C18; C19	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:205950	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	C15	Hemic and Lymphatic Diseases
omim:304150	Occipital horn syndrome	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:605039	C-like syndrome	F03	Mental Disorders
mesh:D016142	Holoprosencephaly	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607277	Asthma, susceptibility to, 1	C08; C18	Respiratory Tract Diseases; Nutritional and Metabolic Diseases
omim:607276	Resting heart rate	C14	Cardiovascular Diseases
omim:255320	Minicore myopathy with external ophthalmoplegia	C05; C10; C11; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:607271	Autoimmune lymphoproliferative syndrome, type IIB	C20	Immune System Diseases
mesh:D012829	Silicosis	C08; C21	Respiratory Tract Diseases; Disorders of Environmental Origin
mesh:D013555	Swine Vesicular Disease	C02; C22	Virus Diseases; Animal Diseases
mesh:D006646	Histiocytosis, Langerhans-Cell	C08; C15	Respiratory Tract Diseases; Hemic and Lymphatic Diseases
mesh:D016137	Spina Bifida Cystica	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:193220	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
mesh:D016135	Spinal Dysraphism	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D050500	Pancreatitis, Chronic	C06	Digestive System Diseases
mesh:D004392	Dwarfism	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:314250	Dystonia-Parkinsonism, X-linked	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:268900	Sarcosinemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D012816	Signs and Symptoms	C23	Pathological Conditions, Signs and Symptoms
omim:221770	Nasu-Hakola disease	C04; C05; C10; C14; F03	Neoplasms; Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Mental Disorders
mesh:D012035	Refsum Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014029	Tobacco Use Disorder	C21; F03	Disorders of Environmental Origin; Mental Disorders
mesh:D019512	Pancreatitis, Alcoholic	C06; C21	Digestive System Diseases; Disorders of Environmental Origin
mesh:D010995	Pleural Diseases	C08	Respiratory Tract Diseases
mesh:D010996	Pleural Effusion	C08	Respiratory Tract Diseases
omim:216900	Achromatopsia-2	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:103900	Aldosteronism, glucocorticoid-remediable	C19	Endocrine System Diseases
mesh:D004393	Dwarfism, Pituitary	C05; C10; C19	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases
omim:603909	Autoimmune lymphoproliferative syndrome, type II	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D012030	Refractive Errors	C11	Eye Diseases
omim:609284	Nemaline myopathy 1, autosomal dominant	NA	Unclassified
omim:609283	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:603902	Thalassemia-beta, dominant inclusion-body	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions	C05; C10; C11; C18; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D010998	Pleurisy	C08	Respiratory Tract Diseases
mesh:D012806	Siderosis	C08; C21	Respiratory Tract Diseases; Disorders of Environmental Origin
omim:179010	Pyloric stenosis, infantile hypertrophic, 1, susceptibility to	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609285	Nemaline myopathy	NA	Unclassified
mesh:D012805	Sickle Cell Trait	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012804	Sick Sinus Syndrome	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:254210	Myasthenic syndrome, congenital, associated with episodic apnea	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006623	von Hippel-Lindau Disease	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D014901	West Nile Fever	C02; C10	Virus Diseases; Nervous system Diseases
mesh:D013576	Syndactyly	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D006627	Hirschsprung Disease	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013575	Syncope	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D017285	Polymyositis	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:121050	Contractural arachnodactyly, congenital	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D006620	Hip Fractures	C21	Disorders of Environmental Origin
omim:276820	Ulna and fibula, absence of, with sever limb deficiency	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:304110	Craniofrontonasal dysplasia	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D004370	Duane Retraction Syndrome	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004374	Ductus Arteriosus, Patent	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607225	Spastic paralysis, infantile onset ascending	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012883	Skin Ulcer	C17	Skin and Connective Tissue Diseases
mesh:D016109	Epidermolysis Bullosa, Junctional	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D004379	Duodenal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D018488	Bone Demineralization, Pathologic	C05	Musculoskeletal Diseases
mesh:D018487	Ventricular Dysfunction, Left	C14	Cardiovascular Diseases
mesh:D016107	Epidermolysis Bullosa Acquisita	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D016108	Epidermolysis Bullosa Dystrophica	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D014917	Whooping Cough	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
omim:609265	Li-Fraumeni syndrome	C04; C16; C18	Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:220290	Deafness, autosomal recessive 1A	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:609260	Charcot-Marie-Tooth disease, type 2A2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:304100	Corpus callosum, partial agenesis of	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D004381	Duodenal Ulcer	C06	Digestive System Diseases
omim:236490	Hyalinosis, infantile systemic	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
omim:607236	HARP syndrome	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:605714	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	C10; C14; C18	Nervous system Diseases; Cardiovascular Diseases; Nutritional and Metabolic Diseases
mesh:D004387	Dupuytren's Contracture	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
mesh:D006607	Adenoma, Sweat Gland	C04	Neoplasms
mesh:D012871	Skin Diseases	C17	Skin and Connective Tissue Diseases
mesh:D012878	Skin Neoplasms	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D018476	Hypokinesia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D014923	Wiskott-Aldrich Syndrome	C15; C16; C20	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
mesh:D046449	Hernia, Abdominal	C23	Pathological Conditions, Signs and Symptoms
mesh:D030361	Papillomavirus Infections	C02	Virus Diseases
omim:278150	Woolly hair, autosomal recessive	C17	Skin and Connective Tissue Diseases
omim:609254	Senior-Loken syndrome 5	C11; C12; C13; C16	Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014929	Wolfram Syndrome	C09; C10; C11; C12; C13; C16; C18; C19	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D012857	Situs Inversus	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014927	Wolff-Parkinson-White Syndrome	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:186500	Synostoses syndrome, multiple, 1	C05; C09; C10; C16; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D012859	Sjogren's Syndrome	C05; C07; C11; C17; C20	Musculoskeletal Diseases; Stomatognathic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D000012	Abetalipoproteinemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000013	Congenital Abnormalities	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D019559	Capillary Leak Syndrome	C14	Cardiovascular Diseases
mesh:D012078	Renal Artery Obstruction	C12; C13; C14	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
mesh:D000014	Abnormalities, Drug-Induced	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000015	Abnormalities, Multiple	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:202300	Adrenal cortical carcinoma	C04; C19	Neoplasms; Endocrine System Diseases
omim:609241	Schindler disease, type I	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609242	Kanzaki disease	C10; C16; C18; C23; F03	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D012080	Renal Osteodystrophy	C05; C12; C13; C18; C19	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:607250	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:304120	Otopalatodigital syndrome, type II	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D016110	Epidermolysis Bullosa Simplex	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:607259	Spastic paraplegia-7	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012088	Reoviridae Infections	C02	Virus Diseases
mesh:D000026	Abortion, Habitual	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D016111	Sjogren-Larsson Syndrome	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D016114	Ichthyosis, X-Linked	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D016115	Albinism, Oculocutaneous	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D004362	Drug Toxicity	C21	Disorders of Environmental Origin
mesh:D016112	Ichthyosis Vulgaris	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D016113	Ichthyosiform Erythroderma, Congenital	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:113200	Brachydactyly, type D	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018496	Hyperoxia	C23	Pathological Conditions, Signs and Symptoms
mesh:D025962	Septo-Optic Dysplasia	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018497	Ventricular Dysfunction, Right	C14	Cardiovascular Diseases
mesh:D016116	Piebaldism	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D016117	Albinism, Ocular	C11; C16; C17; C18	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D044903	Persistent Hyperinsulinemia Hypoglycemia of Infancy	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D012852	Sinusitis	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D012851	Sinus Thrombosis, Intracranial	C10; C14	Nervous system Diseases; Cardiovascular Diseases
omim:219750	Cystinosis, ocular nonnephropathic	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D044905	beta-Mannosidosis	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000022	Abortion, Spontaneous	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D014860	Warts	C02; C04; C17	Virus Diseases; Neoplasms; Skin and Connective Tissue Diseases
omim:210250	Sitosterolemia	C14; C16; C18	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D013610	Tachycardia	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D014869	Water Intoxication	C18; C21	Nutritional and Metabolic Diseases; Disorders of Environmental Origin
omim:609446	Generalized epilepsy and paroxysmal dyskinesia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:603034	Endplate acetylcholinesterase deficiency	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609441	Chrondrodysplasia, acromesomelic, with genital anomalies	C05; C16; C19	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:217400	Corneal endothelial dystrophy and perceptive deafness	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D014849	Waardenburg's Syndrome	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:609452	Myopathy, myofibrillar, ZASP-related	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:109730	Aortic valve disease	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:181510	Schizophrenia 1	F03	Mental Disorders
omim:611016	Autism, susceptibility to, 10	F03	Mental Disorders
omim:611015	Autism, suseptibility to, 9	F03	Mental Disorders
omim:611014	Hypertension, essential, susceptibility to, 8	C14	Cardiovascular Diseases
mesh:D014076	Tooth Diseases	C07	Stomatognathic Diseases
mesh:D014846	Vulvar Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D014845	Vulvar Diseases	C13	Female Urogenital Diseases and Pregnancy Complications
omim:183600	Split-hand/foot malformation 5	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:168605	Perry syndrome	C08; C10; C23; F03	Respiratory Tract Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D014842	von Willebrand Disease	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:145001	Hyperparathyroidism-jaw tumor syndrome	C04; C19	Neoplasms; Endocrine System Diseases
omim:145000	Hyperparathyroidism, AD	C04; C19	Neoplasms; Endocrine System Diseases
omim:243500	Isovaleric acidemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609464	Sarcoidosis, early-onset	C15	Hemic and Lymphatic Diseases
omim:153550	Macrocytic anemia, refractory, of 5q- syndrome	C15	Hemic and Lymphatic Diseases
omim:155100	May-Hegglin anomaly	C15	Hemic and Lymphatic Diseases
omim:609460	Goldberg-Shprintzen megacolon syndrome	C05; C06; C07; C10; C16; C23; F03	Musculoskeletal Diseases; Digestive System Diseases; Stomatognathic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:611022	Deafness, autosomal recessive, 24	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:203655	Alopecia universalis	C17; C23	Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:202400	Afibrinogenemia, congenital	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D025241	Spondylarthritis	C05	Musculoskeletal Diseases
mesh:D016301	Alveolar Bone Loss	C05; C07	Musculoskeletal Diseases; Stomatognathic Diseases
mesh:D025242	Spondylarthropathies	C05	Musculoskeletal Diseases
omim:603041	Mitochondrial neurogastrointestinal encephalomyopathy syndrome	C06; C10; C11; C18; C23	Digestive System Diseases; Nervous system Diseases; Eye Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
omim:135700	Fibrosis of extraocular muscles, congenital, 1	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:603776	Hypercholesterolemia, familial, 3	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:278250	Wrinkly skin syndrome	C05; C10; C14; C16; C17; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:168601	Parkinson disease, familial	C10	Nervous system Diseases
omim:611038	Microphthalmia, isolated 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:108985	Sveinsson choreoretinal atrophy	C11	Eye Diseases
omim:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:609404	Preeclampsia/eclampsia 4	C13	Female Urogenital Diseases and Pregnancy Complications
omim:603075	Age-related maculopathy, susceptibility to	C11	Eye Diseases
mesh:D005141	Eyelid Diseases	C11	Eye Diseases
mesh:D006660	Histoplasmosis	C01	Bacterial Infections and Mycoses
omim:135750	Mirror-image polydactyly	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005146	Facial Asymmetry	C23	Pathological Conditions, Signs and Symptoms
omim:607095	Anauxetic dysplasia	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
omim:607091	Congenital disorder of glycosylation, type IId	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014898	Werner Syndrome	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014897	Spinal Muscular Atrophies of Childhood	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014899	Wernicke Encephalopathy	C10; C18; C21; F03	Nervous system Diseases; Nutritional and Metabolic Diseases; Disorders of Environmental Origin; Mental Disorders
omim:300387	Mental retardation, X-linked nonspecific, 63	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002311	Cardiomyopathy, Dilated	C14	Cardiovascular Diseases
mesh:D014062	Tongue Neoplasms	C04; C07	Neoplasms; Stomatognathic Diseases
mesh:D052878	Urolithiasis	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D005153	Facial Neoplasms	C04	Neoplasms
mesh:D002312	Cardiomyopathy, Hypertrophic	C14	Cardiovascular Diseases
mesh:D002313	Cardiomyopathy, Restrictive	C14	Cardiovascular Diseases
omim:300388	Polymicrogyria, bilateral perisylvian	C10; C16; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D014890	Wegener Granulomatosis	C08; C14	Respiratory Tract Diseases; Cardiovascular Diseases
omim:300389	Retinitis pigmentosa 3	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014069	Tonsillitis	C07; C08; C09	Stomatognathic Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D002318	Cardiovascular Diseases	C14	Cardiovascular Diseases
omim:245660	Laryngoonychocutaneous syndrome	C07; C08; C09; C10; C16; C17; C23	Stomatognathic Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
omim:607084	Deafness, autosomal recessive 31	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:607080	46XY partial gonadal dysgenesis, with minifascicular neuropathy	C12; C13; C16; C19	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
omim:314050	Thrombocytopenia with beta-thalassemia, X-linked	C15	Hemic and Lymphatic Diseases
mesh:D006689	Hodgkin Disease	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
mesh:D005128	Eye Diseases	C11	Eye Diseases
mesh:D004541	Eisenmenger Complex	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005124	Eye Abnormalities	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607078	Epiphyseal dysplasia, multiple, 5	C05	Musculoskeletal Diseases
omim:610505	Combined oxidative phosphorylation deficiency 3	C18	Nutritional and Metabolic Diseases
omim:610504	Preterm premature rupture of the membranes, susceptibility to	C21	Disorders of Environmental Origin
omim:603720	Deafness, autosomal recessive 16	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:156200	Mental retardation, autosomal dominant 1	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:600002	Eiken syndrome	C05	Musculoskeletal Diseases
omim:609423	AIDS, delayed/rapid progression to	C02; C20	Virus Diseases; Immune System Diseases
mesh:D006679	HIV Seropositivity	C02; C20	Virus Diseases; Immune System Diseases
omim:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D004535	Ehlers-Danlos Syndrome	C14; C15; C16; C17	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D005134	Eye Neoplasms	C04; C11	Neoplasms; Eye Diseases
mesh:D005131	Eye Injuries	C21	Disorders of Environmental Origin
omim:111150	Blood group--Lutheran inhibitor	NA	Unclassified
omim:607060	Parkinson disease-8	C10	Nervous system Diseases
omim:184252	Spondylometaphyseal dysplasia, Kozlowski type	C05	Musculoskeletal Diseases
omim:184250	SMED Strudwick type	C05	Musculoskeletal Diseases
omim:174050	Polycystic liver disease	C06	Digestive System Diseases
omim:601596	Charcot-Marie-Tooth disease, type 4C	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D038261	Alexander Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	C10; C13; C23	Nervous system Diseases; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms
omim:231070	Geroderma osteodysplasticum	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:130900	Amelogenesis imperfecta, type 3	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005183	Failure to Thrive	C23	Pathological Conditions, Signs and Symptoms
omim:261750	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:611081	Inflammatory bowel disease 10, susceptibility to	C06	Digestive System Diseases
mesh:D005185	Fallopian Tube Neoplasms	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D015140	Dementia, Vascular	C10; C14; F03	Nervous system Diseases; Cardiovascular Diseases; Mental Disorders
omim:163800	Sick sinus syndrome 2	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:600060	Deafness, autosomal recessive 2, neurosensory	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:300354	Mental retardation syndrome, X-linked, Cabezas type	C10; C16; C19; C23	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Pathological Conditions, Signs and Symptoms
omim:300352	Creatine deficiency syndrome, X-linked	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608323	Charcot-Marie-Tooth disease, dominant intermediate C	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:600059	Retinitis pigmentosa-13	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D008976	Molluscum Contagiosum	C02; C17	Virus Diseases; Skin and Connective Tissue Diseases
omim:110800	Adult i phenotype with congenital cataract	C11; C15	Eye Diseases; Hemic and Lymphatic Diseases
omim:601583	Wilms tumor susceptibility-5	C04; C12; C13; C16	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608320	Coronary artery disease, autosomal dominant, 1	C14	Cardiovascular Diseases
omim:261740	Glycogen storage disease of heart, lethal congenital	C14; C16; C18	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D003884	Dermoid Cyst	C04	Neoplasms
mesh:D005199	Fanconi Anemia	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D005198	Fanconi Syndrome	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002357	Cartilage Diseases	C05; C17	Musculoskeletal Diseases; Skin and Connective Tissue Diseases
omim:611092	Mental retardation, autosomal recessive, 6	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:611093	Mental retardation, autosomal recessive 7	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:610508	Maturity-onset diabetes of the young, type VII	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:118210	Charcot-Marie-Tooth disease, type 2A1	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608328	Weill-Marchesani syndrome, dominant	C05; C11; C16; C17; C23	Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
mesh:D003881	Dermatomycoses	C01; C17	Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases
omim:307000	Hydrocephalus due to aqueductal stenosis	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:277180	Congenital bilateral absence of vas deferens	C12; C19	Male Urogenital Diseases; Endocrine System Diseases
mesh:D003882	Dermatomyositis	C05; C10; C17	Musculoskeletal Diseases; Nervous system Diseases; Skin and Connective Tissue Diseases
omim:610549	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	C17; C18; C19	Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
mesh:D054243	Vesicular Stomatitis	C02; C07; C22	Virus Diseases; Stomatognathic Diseases; Animal Diseases
mesh:D001607	Berylliosis	C08; C21	Respiratory Tract Diseases; Disorders of Environmental Origin
omim:231050	Geleophysic dysplasia	C05; C14; C16; C18; C23	Musculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001606	Bernard-Soulier Syndrome	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D002349	Carpal Tunnel Syndrome	C10; C21	Nervous system Diseases; Disorders of Environmental Origin
mesh:D005168	Factor VII Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003877	Dermatitis, Contact	C17	Skin and Connective Tissue Diseases
mesh:D003875	Drug Eruptions	C17; C20; C21	Skin and Connective Tissue Diseases; Immune System Diseases; Disorders of Environmental Origin
mesh:D002345	Carotid Body Tumor	C04	Neoplasms
mesh:D003876	Dermatitis, Atopic	C16; C17; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
omim:225250	Hypothyroidism, congenital nongoitrous, 5	C19	Endocrine System Diseases
mesh:D003873	Dermatitis, Exfoliative	C17	Skin and Connective Tissue Diseases
mesh:D005166	Factor V Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003874	Dermatitis Herpetiformis	C17; C20	Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D049970	Graves Ophthalmopathy	C11; C19; C20	Eye Diseases; Endocrine System Diseases; Immune System Diseases
mesh:D002340	Carotid Artery Diseases	C10; C14	Nervous system Diseases; Cardiovascular Diseases
mesh:D003872	Dermatitis	C17	Skin and Connective Tissue Diseases
mesh:D020391	Muscular Dystrophy, Facioscapulohumeral	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:118220	Charcot-Marie-Tooth disease, type 1A	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610539	Gaucher disease, atypical	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:108900	Atrial septal defect with atrioventricular conduction defects	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608340	Charcot-Marie-Tooth disease, recessive intermediate A	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D005173	Factor XI Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:301310	Anemia, sideroblastic, with ataxia	C15	Hemic and Lymphatic Diseases
omim:610532	Leukodystrophy, hypolyelinating, 5	C05; C10; C11; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D005171	Factor X Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003866	Depressive Disorder	F03	Mental Disorders
omim:209300	Atransferrinemia	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
omim:300367	Dyserythropoietic anemia with thrombocytopenia	C15	Hemic and Lymphatic Diseases
mesh:D005177	Factor XIII Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003863	Depression	F01	Behavior and Behavior Mechanisms
omim:161800	Myopathy, actin, congenital, with excess of thin myofilaments	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D005175	Factor XII Deficiency	C15; C16	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003865	Depressive Disorder, Major	F03	Mental Disorders
omim:215045	Chondrodysplasia, Blomstrand type	C05	Musculoskeletal Diseases
omim:242900	Schimke immunoosseous dysplasia	C05; C06; C07; C10; C12; C13; C14; C16; C17; C19; C20; C23	Musculoskeletal Diseases; Digestive System Diseases; Stomatognathic Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Endocrine System Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:250460	Metaphyseal dysplasia without hypotrichosis	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:601559	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	C05	Musculoskeletal Diseases
mesh:D054220	Malformations of Cortical Development	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054221	Classical Lissencephalies and Subcortical Band Heterotopias	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608354	Capillary malformation-arteriovenous malformation	C14; C16; C17	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:601553	Hypotrichosis, congenital, with juvenile macular dystrophy	C17	Skin and Connective Tissue Diseases
omim:603786	Stargardt disease 4	C11	Eye Diseases
omim:601551	Blood group--froese	NA	Unclassified
omim:601550	Blood group--swann system; sw	NA	Unclassified
omim:253000	Mucopolysaccharidosis IVA	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:226980	Wolcott-Rallison syndrome	C05	Musculoskeletal Diseases
omim:307030	Glycerol kinase deficiency	C05; C10; C16; C18	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:608358	Myopathy, myosin storage	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
mesh:D049950	Hyperparathyroidism, Primary	C19	Endocrine System Diseases
omim:176305	Guttmacher syndrome	C05; C12; C13; C16	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054219	Neoplasms, Plasma Cell	C04	Neoplasms
omim:611040	Microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen	C10; C11; C16	Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D054218	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	C04; C15; C20	Neoplasms; Hemic and Lymphatic Diseases; Immune System Diseases
omim:612621	Mental retardation, autosomal dominant 5	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:601547	Cataract, cerulean, type 2	C11	Eye Diseases
omim:610551	Herpes simplex encephalitis, susceptibility to, 1	C02; C10	Virus Diseases; Nervous system Diseases
omim:182601	Spastic paraplegia-4	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:154020	Hypomagnesemia-2, renal	C12; C13; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases
omim:601543	Deafness, autosomal dominant 8/12	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601544	Deafness, autosomal dominant 3A	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:612624	Microvascular complications of diabetes 3	C14; C19	Cardiovascular Diseases; Endocrine System Diseases
omim:612623	Microvascular complications of diabetes 2	C14; C19	Cardiovascular Diseases; Endocrine System Diseases
omim:190440	Trigonocephaly	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:608361	Spondyloepiphyseal dysplasia, Kimberley type	C05	Musculoskeletal Diseases
omim:600095	Split-hand/foot malformation 3	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:300301	Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:300306	Obesity, susceptibility to, BMIQ11	C18; C23	Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D015160	Hydrops Fetalis	C13; C15; C16; C20; C23	Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:601536	Athabaskan brainstem dysgenesis syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:610582	Diabetes mellitus, transient neonatal, 3	C18; C19	Nutritional and Metabolic Diseases; Endocrine System Diseases
omim:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	C10	Nervous system Diseases
omim:611064	Asthma susceptibility 5	C08; C20	Respiratory Tract Diseases; Immune System Diseases
omim:612631	Hemolytic anemia due to adenylate kinase deficiency	C15	Hemic and Lymphatic Diseases
omim:612630	Hair morphology 1, hair thickness	NA	Unclassified
omim:612635	Microvascular complications of diabetes 7	C14; C19	Cardiovascular Diseases; Endocrine System Diseases
mesh:D002385	Cataplexy	C10; F03	Nervous system Diseases; Mental Disorders
omim:600081	Rickets due to defect in vitamin D 25-hydroxylation	C05; C18	Musculoskeletal Diseases; Nutritional and Metabolic Diseases
mesh:D002386	Cataract	C11	Eye Diseases
omim:222600	Diastrophic dysplasia	C05	Musculoskeletal Diseases
mesh:D036821	Endometrial Stromal Tumors	C04; C13	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
mesh:D015163	Superinfection	C01; C02; C03	Bacterial Infections and Mycoses; Virus Diseases; Parasitic Diseases
mesh:D049932	Nijmegen Breakage Syndrome	C18	Nutritional and Metabolic Diseases
omim:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	C05; C11; C16; C17	Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:612644	Deafness, autosomal dominant 2B	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:608380	Retinitis pigmentosa-26	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612643	Deafness, autosomal dominant 3B	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:612645	Deafness, autosomal recessive 1B	C09; C10; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:608389	Brachiootic syndrome 3	C16	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612649	Ciliary dyskinesia, primary, 11	C08; C09	Respiratory Tract Diseases; Otorhinolaryngologic Diseases
mesh:D008998	Monoclonal Gammopathies, Benign	C15; C20	Hemic and Lymphatic Diseases; Immune System Diseases
omim:231005	Gaucher disease, type IIIC	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015179	Colorectal Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
omim:300323	HPRT-related gout	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015173	Supratentorial Neoplasms	C04; C10	Neoplasms; Nervous system Diseases
mesh:D015175	Prolactinoma	C04; C10; C19	Neoplasms; Nervous system Diseases; Endocrine System Diseases
omim:174900	Juvenile polyposis syndrome, infantile form	C04; C06; C16	Neoplasms; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003803	Dentigerous Cyst	C04; C05; C07	Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
mesh:D020345	Enterocolitis, Necrotizing	C06	Digestive System Diseases
omim:105250	Amyloidosis, primary localized cutaneous	C16; C17; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
omim:606824	Glucose/galactose malabsorption	C06; C13; C16; C18; C23	Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms
mesh:D000172	Acromegaly	C05; C10; C19	Musculoskeletal Diseases; Nervous system Diseases; Endocrine System Diseases
omim:228600	Fibromatosis, juvenile hyaline	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:215100	Rhizomelic chondrodysplasia punctata, type 1	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:604717	Deafness, autosomal dominant 20/26	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D055371	Acute Lung Injury	C08	Respiratory Tract Diseases
mesh:D055370	Lung Injury	C08	Respiratory Tract Diseases
omim:610478	Retinal cone dystrophy 4	C11	Eye Diseases
omim:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:612540	Myopathy, congenital, Compton-North	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612541	Neutropenia, severe congenital, autosomal recessive 4	C15	Hemic and Lymphatic Diseases
omim:610474	CATSHL syndrome	C05; C09; C10; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:610475	Pigmented nodular adrenocortical disease, primary, 2	C19	Endocrine System Diseases
omim:612542	Vitamin B12 plasma level QTL1	C18	Nutritional and Metabolic Diseases
mesh:D003811	Dentinogenesis Imperfecta	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:276904	Usher syndrome, type 1C	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D020336	Paraparesis, Spastic	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D049912	Growth Hormone-Secreting Pituitary Adenoma	C04; C10; C19	Neoplasms; Nervous system Diseases; Endocrine System Diseases
omim:149400	Hyperekplexia	C10	Nervous system Diseases
mesh:D049913	ACTH-Secreting Pituitary Adenoma	C04; C10; C19	Neoplasms; Nervous system Diseases; Endocrine System Diseases
omim:276901	Usher syndrome, type 2A	C09; C10; C11; C16; C23	Otorhinolaryngologic Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:606812	Fumarase deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:605850	Dimethylglycine dehydrogenase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D020331	Mobius Syndrome	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018332	Nevus, Epithelioid and Spindle Cell	C04	Neoplasms
mesh:D019465	Craniofacial Abnormalities	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:146590	Ichthyosis hystrix, curth-macklin type	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018335	Rhabdoid Tumor	C04	Neoplasms
mesh:D023903	Coronary Restenosis	C14	Cardiovascular Diseases
omim:610489	Pigmented adrenocortical disease, primary, 1	C19	Endocrine System Diseases
omim:612539	Spastic paraplegia-42	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601631	Iridogoniodysgenesis, type 1	C11	Eye Diseases
mesh:D019462	Syncope, Vasovagal	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:601634	Neural tube defects, folate-sensitive, susceptibility to	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D003805	Dentin Dysplasia	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020326	Migraine without Aura	C10	Nervous system Diseases
mesh:D020329	Essential Tremor	C10	Nervous system Diseases
mesh:D018328	Melanoma, Amelanotic	C04	Neoplasms
mesh:D020325	Migraine with Aura	C10	Nervous system Diseases
mesh:D020323	Tics	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D002292	Carcinoma, Renal Cell	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D000152	Acne Vulgaris	C17	Skin and Connective Tissue Diseases
mesh:D023921	Coronary Stenosis	C14	Cardiovascular Diseases
mesh:D002295	Carcinoma, Transitional Cell	C04	Neoplasms
mesh:D018325	Hemangioblastoma	C04	Neoplasms
mesh:D002294	Carcinoma, Squamous Cell	C04	Neoplasms
mesh:D002296	Carcinosarcoma	C04	Neoplasms
mesh:D018322	Angiofibroma	C04	Neoplasms
omim:241500	Hypophosphatasia, infantile	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:103050	Adenylosuccinase deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D002291	Carcinoma, Papillary	C04	Neoplasms
omim:601606	Trichoepithelioma, multiple familial, 1	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
omim:610498	Combined oxidative phosphorylation deficiency 2	C18	Nutritional and Metabolic Diseases
omim:612562	Diamond-Blackfan anemia 7	NA	Unclassified
omim:612563	Diamond-Blackfan anemia 8	NA	Unclassified
omim:612560	Bone mineral density QTL 12	NA	Unclassified
omim:612561	Diamond-Blackfan anemia 6	NA	Unclassified
mesh:D019449	Pouchitis	C06	Digestive System Diseases
mesh:D018318	Neurofibroma, Plexiform	C04; C10	Neoplasms; Nervous system Diseases
omim:102700	Adenosine deaminase deficiency, partial	C16; C18; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
mesh:D018317	Nerve Sheath Neoplasms	C04; C10	Neoplasms; Nervous system Diseases
mesh:D000169	Acrodermatitis	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D018316	Gliosarcoma	C04	Neoplasms
mesh:D000168	Acrocephalosyndactylia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000163	Acquired Immunodeficiency Syndrome	C02; C20	Virus Diseases; Immune System Diseases
mesh:D019446	Endotoxemia	C01; C23	Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms
omim:264470	Peroxisomal acyl-CoA oxidase deficiency	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:241510	Hypophosphatasia, childhood	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:612555	Breast-ovarian cancer, familial, 2	C04; C13; C17; C19	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
omim:612556	Adiponectin deficiency	NA	Unclassified
mesh:D007340	Insulinoma	C04; C06; C19	Neoplasms; Digestive System Diseases; Endocrine System Diseases
mesh:D018300	Papilloma, Intraductal	C04	Neoplasms
mesh:D018302	Neoplasms, Neuroepithelial	C04	Neoplasms
mesh:D018303	Ganglioglioma	C04	Neoplasms
mesh:D001661	Biliary Tract Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D018305	Ganglioneuroblastoma	C04	Neoplasms
omim:606864	Paraganglioma and gastric stromal sarcoma	C04; C06	Neoplasms; Digestive System Diseases
mesh:D018306	Neurocytoma	C04; C10	Neoplasms; Nervous system Diseases
mesh:D018307	Neoplasms, Squamous Cell	C04	Neoplasms
mesh:D020388	Muscular Dystrophy, Duchenne	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018308	Papilloma, Inverted	C04	Neoplasms
mesh:D020389	Muscular Dystrophy, Emery-Dreifuss	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020386	Isaacs Syndrome	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:612580	Mental retardation, autosomal dominant 3	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:612581	Mental retardation, autosomal dominant 4	C10; C23; F03	Nervous system Diseases; Pathological Conditions, Signs and Symptoms; Mental Disorders
mesh:D017379	Hypertrophy, Left Ventricular	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D020385	Myokymia	C10; C23	Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:167400	Paroxysmal extreme pain disorder	C06; C10; C23	Digestive System Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:105210	Amyloid polyneuropathy, several types	C18	Nutritional and Metabolic Diseases
mesh:D044882	Glucose Metabolism Disorders	C18	Nutritional and Metabolic Diseases
mesh:D031300	Retinal Vasculitis	C11; C14	Eye Diseases; Cardiovascular Diseases
omim:241520	Hypophosphatemic rickets, AR	C05; C12; C13; C16; C18	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606072	Rippling muscle disease	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:215140	Greenberg dysplasia	C05; C13; C15; C16; C18; C20; C23	Musculoskeletal Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms
omim:146550	Hypotrichosis, hereditary, Marie Unna type, 1	C17	Skin and Connective Tissue Diseases
mesh:D012128	Respiratory Distress Syndrome, Adult	C08	Respiratory Tract Diseases
mesh:D012127	Respiratory Distress Syndrome, Newborn	C08; C16	Respiratory Tract Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D020370	Osteoarthritis, Knee	C05	Musculoskeletal Diseases
mesh:D020371	Pelizaeus-Merzbacher Disease	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D015228	Hypertriglyceridemia	C18	Nutritional and Metabolic Diseases
omim:606854	Polymicrogyria, bilateral frontoparietal	C05; C10; C11; C16; C23	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
mesh:D015223	Wolman Disease	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606856	Pancreatic cancer, susceptibility to, 1	NA	Unclassified
omim:226900	Epiphyseal dysplasia, multiple, 4	C05	Musculoskeletal Diseases
omim:606858	Premature chromosome condensation with microcephaly and mental retardation	C05; C10; C16; C23; F03	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Mental Disorders
omim:254130	Miyoshi myopathy	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:233300	Ovarian dysgenesis 1	C13; C19	Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
omim:612577	Amyotrophic lateral sclerosis 11	C10	Nervous system Diseases
mesh:D009542	Niemann-Pick Diseases	C10; C15; C16; C18	Nervous system Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:241530	Hypophosphatemic rickets with hypercalciuria	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:215150	Otospondylomegaepiphyseal dysplasia	C05; C09; C10; C23	Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D047688	Breast Cyst	C04; C17	Neoplasms; Skin and Connective Tissue Diseases
mesh:D017359	HELLP Syndrome	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D011472	Prostatitis	C12	Male Urogenital Diseases
mesh:D020362	Paraneoplastic Cerebellar Degeneration	C04; C10	Neoplasms; Nervous system Diseases
mesh:D011470	Prostatic Hyperplasia	C12	Male Urogenital Diseases
mesh:D020363	Limbic Encephalitis	C04; C10	Neoplasms; Nervous system Diseases
omim:606889	Alzheimer disease-4	C10; F03	Nervous system Diseases; Mental Disorders
mesh:D011471	Prostatic Neoplasms	C04; C12	Neoplasms; Male Urogenital Diseases
mesh:D015212	Inflammatory Bowel Diseases	C06	Digestive System Diseases
mesh:D015211	Zellweger Syndrome	C06; C10; C12; C13; C16; C18	Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D015210	Arthritis, Gouty	C05; C16; C18	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606056	Glucosidase I deficiency	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606054	Propionicacidemia	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:606052	Convulsions, benign familial infantile, 3; bfic3	NA	Unclassified
omim:262300	Achromatopsia-3	C10; C11; C23	Nervous system Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
omim:171200	Phenylthiocarbamide tasting	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
mesh:D001650	Bile Duct Neoplasms	C04; C06	Neoplasms; Digestive System Diseases
mesh:D011469	Prostatic Diseases	C12	Male Urogenital Diseases
mesh:D015207	Osteoarthritis, Hip	C05	Musculoskeletal Diseases
mesh:D015209	Cholangitis, Sclerosing	C06	Digestive System Diseases
omim:200700	Chondrodysplasia, Grebe type	C05	Musculoskeletal Diseases
mesh:D001656	Biliary Atresia	C06; C16	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D001655	Bile Reflux	C06	Digestive System Diseases
omim:259420	OI type III	C05; C16; C17	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
omim:231095	Ghosal syndrome	C05; C15	Musculoskeletal Diseases; Hemic and Lymphatic Diseases
omim:606069	Hemochromatosis, type 4	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D007383	Intermittent Claudication	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:254110	Muscular dystrophy, limb-girdle, type 2H	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:140000	Hand-foot-uterus syndrome	C05; C12; C13; C16	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D010855	Pierre Robin Syndrome	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D009521	Newcastle Disease	C02; C22	Virus Diseases; Animal Diseases
mesh:D013684	Telangiectasis	C14	Cardiovascular Diseases
mesh:D013683	Telangiectasia, Hereditary Hemorrhagic	C14; C15; C16	Cardiovascular Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014141	Trachoma	C01; C11	Bacterial Infections and Mycoses; Eye Diseases
mesh:D023981	Sarcoma, Myeloid	C04	Neoplasms
omim:235550	Hepatic venoocclusive disease with immunodeficiency	C06; C14; C20	Digestive System Diseases; Cardiovascular Diseases; Immune System Diseases
mesh:D009503	Neutropenia	C15	Hemic and Lymphatic Diseases
omim:607174	Meningioma	C04; C10	Neoplasms; Nervous system Diseases
omim:220111	Leigh syndrome, French-Canadian type	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:263400	Polycythemia, benign familial	C15	Hemic and Lymphatic Diseases
mesh:D009508	Nevus, Pigmented	C04	Neoplasms
mesh:D009506	Nevus	C04	Neoplasms
omim:235555	Bile acid synthesis defect, congenital, 2	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607941	Atrial septal defect-2	C14; C16	Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D014135	Tracheal Stenosis	C08	Respiratory Tract Diseases
omim:239000	Paget disease, juvenile	C05	Musculoskeletal Diseases
mesh:D012163	Retinal Detachment	C11	Eye Diseases
mesh:D012164	Retinal Diseases	C11	Eye Diseases
mesh:D012162	Retinal Degeneration	C11	Eye Diseases
omim:607948	Mycobacterium tuberculosis, protection against	C01; C18	Bacterial Infections and Mycoses; Nutritional and Metabolic Diseases
mesh:D014138	Tracheoesophageal Fistula	C06; C08; C23	Digestive System Diseases; Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
mesh:D046589	CADASIL	C10; C14; C16	Nervous system Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:603813	Hypercholesterolemia, familial, autosomal recessive	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607143	Congenital disorder of glycosylation, type Ig	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:146520	Hypotrichosis simplex of scalp	C17	Skin and Connective Tissue Diseases
mesh:D052776	Female Urogenital Diseases	C13	Female Urogenital Diseases and Pregnancy Complications
mesh:D016269	Milk Hypersensitivity	C20	Immune System Diseases
mesh:D016263	AIDS-Associated Nephropathy	C02; C12; C13; C20	Virus Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases
mesh:D012130	Respiratory Hypersensitivity	C08; C20	Respiratory Tract Diseases; Immune System Diseases
mesh:D014123	Toxoplasmosis	C03	Parasitic Diseases
mesh:D013661	Tay-Sachs Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D012131	Respiratory Insufficiency	C08	Respiratory Tract Diseases
mesh:D014125	Toxoplasmosis, Congenital	C03; C10; C16	Parasitic Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:255200	Myopathy, centronuclear, autosomal recessive	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:249000	Meckel syndrome, type 1	C05; C06; C10; C12; C13; C16	Musculoskeletal Diseases; Digestive System Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607155	Muscular dystrophy, limb-girdle, type 2I	C05; C10; C16	Musculoskeletal Diseases; Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:105200	Amyloidosis, 3 or more types	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:607154	Allergic rhinitis, susceptibility to	C08; C09; C20	Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Immune System Diseases
omim:603807	Peters anomaly with cataract	C07; C16	Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:193100	Hypophosphatemic rickets, autosomal dominant	C05; C12; C13; C16; C18	Musculoskeletal Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:304020	Cone-rod dystrophy-1	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D012140	Respiratory Tract Diseases	C08	Respiratory Tract Diseases
mesh:D012141	Respiratory Tract Infections	C01; C08	Bacterial Infections and Mycoses; Respiratory Tract Diseases
omim:257270	Night blindness, congenital stationary, type 1B	C11	Eye Diseases
mesh:D012148	Restless Legs Syndrome	C10; F03	Nervous system Diseases; Mental Disorders
omim:113300	Brachydactyly, type E	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:178600	Pulmonary hypertension, familial primary	C08; C14	Respiratory Tract Diseases; Cardiovascular Diseases
mesh:D014808	Vitamin D Deficiency	C18	Nutritional and Metabolic Diseases
omim:166350	Osseous heteroplasia, progressive	C05; C23	Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms
mesh:D018382	Thyroid Hormone Resistance Syndrome	C19	Endocrine System Diseases
mesh:D014813	Vitamin K Deficiency	C15; C18	Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases
mesh:D014811	Vitamin E Deficiency	C18	Nutritional and Metabolic Diseases
omim:605803	Dermatitis, atopic, susceptibility to	C17	Skin and Connective Tissue Diseases
mesh:D004479	Ectopia Lentis	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D000130	Achondroplasia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:605805	Dermatitis, atopic, 4	C16; C17; C20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
mesh:D020300	Intracranial Hemorrhages	C10; C14; C23	Nervous system Diseases; Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:604757	Craniosynostosis, type 2	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D004474	Ecthyma, Contagious	C02; C22	Virus Diseases; Animal Diseases
mesh:D004476	Ectodermal Dysplasia	C16; C17	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
mesh:D007333	Insulin Resistance	C18	Nutritional and Metabolic Diseases
mesh:D012192	Retroviridae Infections	C02	Virus Diseases
mesh:D000138	Acidosis	C18	Nutritional and Metabolic Diseases
mesh:D004480	Ectromelia	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:606003	Transaldolase deficiency	C06; C16; C18	Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:276950	VATER association with hydrocephalus	C05; C06; C08; C10; C12; C13; C14; C16; C23	Musculoskeletal Diseases; Digestive System Diseases; Respiratory Tract Diseases; Nervous system Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
omim:607133	Cataract, sutural, with punctate and cerulean opacities	C11	Eye Diseases
omim:606002	Ataxia-ocular apraxia-2	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607136	Huntington disease-like-4	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:230450	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	C15; C16; C18	Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
omim:220150	Hypouricemia, renal	C12; C13	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D018370	Leukocyte-Adhesion Deficiency Syndrome	C20	Immune System Diseases
omim:122700	Coumarin resistance	C15	Hemic and Lymphatic Diseases
omim:185800	Symphalangism, proximal	C05; C16	Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607906	Congenital disorder of glycosylation, type Ii	C16; C18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000140	Acidosis, Lactic	C18	Nutritional and Metabolic Diseases
omim:605814	Citrullinemia, type II, neonatal-onset	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D000141	Acidosis, Renal Tubular	C12; C13; C16; C18	Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D014820	Vitiligo	C17	Skin and Connective Tissue Diseases
omim:604765	Cardiomyopathy, dilated, 1I	C14	Cardiovascular Diseases
mesh:D004487	Edema	C23	Pathological Conditions, Signs and Symptoms
mesh:D004485	Eczema	C17	Skin and Connective Tissue Diseases
omim:607903	Hypotrichosis, localized, autosomal recessive	C17	Skin and Connective Tissue Diseases
omim:607101	Deafness, autosomal recessive 30	C07; C09; C10; C23	Stomatognathic Diseases; Otorhinolaryngologic Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	C10; C16	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D013617	Tachycardia, Supraventricular	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
mesh:D012178	Retinopathy of Prematurity	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
mesh:D018365	Neoplasm, Residual	C04; C23	Neoplasms; Pathological Conditions, Signs and Symptoms
mesh:D013625	Takayasu Arteritis	C14; C17	Cardiovascular Diseases; Skin and Connective Tissue Diseases
mesh:D018366	Vasculitis, Hypersensitivity	C14; C20	Cardiovascular Diseases; Immune System Diseases
mesh:D006712	Homocystinuria	C10; C16; C17; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nutritional and Metabolic Diseases
mesh:D012170	Retinal Vein Occlusion	C11; C14	Eye Diseases; Cardiovascular Diseases
mesh:D012173	Retinitis	C11	Eye Diseases
omim:604772	Ventricular tachycardia, catecholaminergic polymorphic, 1	C14; C23	Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms
omim:605820	Nonaka myopathy	C05; C10	Musculoskeletal Diseases; Nervous system Diseases
omim:607932	Microphthalmia, syndromic 6	C05; C10; C11; C16; C19	Musculoskeletal Diseases; Nervous system Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
mesh:D012175	Retinoblastoma	C04; C11	Neoplasms; Eye Diseases
mesh:D012174	Retinitis Pigmentosa	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:604777	Ichthyosis, lamellar, 3	C17	Skin and Connective Tissue Diseases
omim:603013	Schizophrenia, susceptibility to	F03	Mental Disorders
omim:605839	Leiomyomatosis and renal cell cancer	C04; C12; C13	Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications
mesh:D013631	Tangier Disease	C10; C16; C18	Nervous system Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
mesh:D018358	Neuroendocrine Tumors	C04	Neoplasms
mesh:D033461	Hyperuricemia	C23	Pathological Conditions, Signs and Symptoms
mesh:D014802	Vitamin A Deficiency	C18	Nutritional and Metabolic Diseases
mesh:D000126	Achlorhydria	C06; C18	Digestive System Diseases; Nutritional and Metabolic Diseases
mesh:D012182	Retrognathism	C05; C07; C16	Musculoskeletal Diseases; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
omim:607115	CINCA syndrome	C05; C10; C23	Musculoskeletal Diseases; Nervous system Diseases; Pathological Conditions, Signs and Symptoms
omim:607921	Retinitis pigmentosa-30	C11; C16	Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities