Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Charcot-Marie-Tooth disease X-linked recessive 4	DOID_0110212	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.]
Charcot-Marie-Tooth disease type X	DOID_0050542	[A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.]
Guttmacher syndrome	DOID_0111544	[A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2.]
isolated cleft palate	DOID_0110213	[A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.]
obsolete Varicella-zoster virus encephalitis	DOID_0050182	[A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.]
pigmented paravenous chorioretinal atrophy	DOID_0111541	[An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3.]
Charcot-Marie-Tooth disease X-linked recessive 5	DOID_0110210	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.]
obsolete Herpes simplex virus encephalitis	DOID_0050181	[A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.]
familial expansile osteolysis	DOID_0111542	[A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33.]
Charcot-Marie-Tooth disease X-linked recessive 3	DOID_0110211	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26.]
aplasia of lacrimal and salivary glands	DOID_0111549	[A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12.]
Brugada syndrome 1	DOID_0110218	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.]
Brugada syndrome 2	DOID_0110219	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22.]
cataract 41	DOID_0110241	[A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.]
familial woolly hair syndrome	DOID_0111572	[A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.]
autosomal dominant woolly hair	DOID_0111573	[A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13.]
cataract 13 with adult i phenotype	DOID_0110242	[A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.]
snowflake vitreoretinal degeneration	DOID_0111570	[An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.]
Weyers acrofacial dysostosis	DOID_0111571	[An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.]
cataract 20 multiple types	DOID_0110240	[A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27.]