All terms in DOID

Label Id Description
orofaciodigital syndrome XX DOID_0060962 [An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.]
Joint dislocation HP_0001373
obsolete dystonia, DOPA-responsive DOID_0060963 [A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.]
Loeys-Dietz syndrome 6 DOID_0060964 [A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.]
attention deficit hyperactivity disorder DOID_1094 [A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.]
episodic ataxia type 9 DOID_0060965 [An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.]
episodic ataxia DOID_963 [A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.]
dystonia 22, juvenile-onset DOID_0060966 [A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.]
dystonia 22, adult-onset DOID_0060967 [A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene.]
nail discoloration SYMP_0000444
knee pain SYMP_0000442 [A joint pain that is characterized by a pain situated, or occurring, in or around the knee.]
shoulder pain SYMP_0000443 [A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder.]
hair loss SYMP_0000440 [A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors.]
hair symptom SYMP_0020040
unclassified sequences NCBITaxon_12908
unclassified entries NCBITaxon_2787823
elbow pain SYMP_0000441 [A joint pain that is characterized by a pain situated, or occurring, in or around the elbow.]
proteosome-associated autoinflammatory syndrome DOID_0060913 [An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.]
autoinflammatory disease DOID_0051000 [A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.]
proteosome-associated autoinflammatory syndrome 2 DOID_0060914 [A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.]