All terms in DOID

Label Id Description
atypical autosomal dominant adult-onset demyelinating leukodystrophy DOID_0051014 [An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging.]
Bryant-Li-Bhoj neurodevelopmental syndrome 2 DOID_0051012 [A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.]
pseudohypoparathyroidism type 1C DOID_0051013 [A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.]
focal segmental glomerulosclerosis 2 DOID_0111129 [A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1.]
nephronophthisis 20 DOID_0111127 [A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.]
focal segmental glomerulosclerosis 1 DOID_0111128 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.]
nephronophthisis 18 DOID_0111125 [A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.]
nephronophthisis 19 DOID_0111126 [A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.]
nephronophthisis 15 DOID_0111123 [A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.]
nephronophthisis 16 DOID_0111124 [A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.]
myocardium cancer DOID_9299
visceral heterotaxy 3 DOID_0051018 [A visceral heterotaxy that has been mapped to chromosome 6q21.]
visceral heterotaxy 4 DOID_0051019 [A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.]
visceral heterotaxy 1 DOID_0051016 [A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.]
visceral heterotaxy 2 DOID_0051017 [A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21.]
alkaptonuria DOID_9270 [An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.]
p-menthane monoterpenoid CHEBI_25186
hyperlysinemia DOID_9274 [An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.]
ornithine carbamoyltransferase deficiency DOID_9271 [An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.]
cystinuria DOID_9266 [An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.]