All terms in DOID

Label Id Description
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.]
proteosome-associated autoinflammatory syndrome 4 DOID_0060915 [A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.]
proteasome-associated autoinflammatory syndrome 3 DOID_0060916 [A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.]
facioscapulohumeral muscular dystrophy 3 DOID_0060917 [A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.]
facioscapulohumeral muscular dystrophy DOID_11727
facioscapulohumeral muscular dystrophy 4 DOID_0060918 [A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.]