All terms in DOID

Label Id Description
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 the CRB1 gene 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 the TNFRSF11A gene 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 the FGF10 gene 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.]
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.]
cataract 41 DOID_0110241 [A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.]
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.]
autosomal dominant woolly hair DOID_0111573 [A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13.]
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.]
cataract 11 multiple types DOID_0110249 [A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.]
cataract 36 DOID_0110247 [A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.]
Gillespie syndrome DOID_0111578 [A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.]
Abnormal pulmonary interstitial morphology HP_0006530