All terms in DOID

Label Id Description
glycine encephalopathy 2 DOID_0061001 [A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.]
Basilicata-Akhtar syndrome DOID_0111838 [A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.]
autosomal recessive nonsyndromic deafness 5 DOID_0110507 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12.]
congenital amegakaryocytic thrombocytopenia 2 DOID_0061002 [A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27.]
autosomal recessive nonsyndromic deafness 47 DOID_0110504 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3.]
congenital nongoitrous hypothyroidism 9 DOID_0111835 [A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.]
obsolete tumor of specialized prostatic stroma DOID_2990
pancreatic agenesis 1 DOID_0061003 [A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.]
congenital nongoitrous hypothyroidism 7 DOID_0111836 [A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.]
autosomal recessive nonsyndromic deafness 48 DOID_0110505 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.]
obsolete stromal neoplasm DOID_2991
obsolete Burkholderia cenocepacia infectious disease DOID_0050357
prostate neuroendocrine neoplasm DOID_2992
obsolete Bilophila wadsworthia necrotizing fasciitis DOID_0050359
obsolete commensal Chlamydiaceae infectious disease DOID_0050358
obsolete ovarian mixed germ cell-sex cord neoplasm DOID_2995
mixed germ cell-sex cord neoplasm DOID_2996
Sertoli-Leydig cell tumor DOID_2997 [A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles.]
chronic interstitial cystitis DOID_1678 [A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency.]
low implantation of placenta DOID_1677