All terms in DOID

Label Id Description
glutaric acidemia I DOID_0111254 [An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.]
Parkinson's disease 21 DOID_0111251 [A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.]
bone of free limb or fin UBERON_0004375
vestibular schwannomatosis DOID_0111252 [A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.]
Parkinson's disease 3 DOID_0111250 [A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.]
ester CHEBI_35701
postaxial acrofacial dysostosis DOID_0111259 [A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.]
gamma-glutamyl transpeptidase deficiency DOID_0111257 [An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.]
pentosuria DOID_0111258 [An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.]
fin bone UBERON_0004376
McKusick-Kaufman syndrome DOID_0111255 [A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.]
hyperferritinemia-cataract syndrome DOID_0111256 [A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.]
beta-lactam CHEBI_35627
congenital muscular dystrophy-dystroglycanopathy type A6 DOID_0111242 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.]
acromicric dysplasia DOID_0111243 [An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.]
Ancylostomatinae NCBITaxon_53469
congenital muscular dystrophy-dystroglycanopathy type A2 DOID_0111240 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.]
congenital muscular dystrophy-dystroglycanopathy type A5 DOID_0111241 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.]
lead CHEBI_25016 [A chemical driver that is composed of lead, which is found primarily in old paint, old paint dust, contaminated soil or contaminated drinking water.]
cerebrocostomandibular syndrome DOID_0111248 [A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.]