All terms in DOID

Label Id Description
synostosis DOID_11971 [A dysostosis that results_in abnormal fusing of adjacent bones.]
Holt-Oram syndrome DOID_0060468 [A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.]
Miller-Dieker lissencephaly syndrome DOID_0060469 [A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.]
chromosome 5p13 duplication syndrome DOID_0060460 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.]
chromosomal duplication syndrome DOID_0060429 [A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.]
chromosome Xp11.23-p11.22 duplication syndrome DOID_0060461 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.]
Desbuquois dysplasia DOID_0060462 [An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.]
NUT midline carcinoma DOID_0060463 [A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.]
Feingold syndrome DOID_0060464 [A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.]
susceptibility to hepatitis C virus MIM_609532
Rubulavirinae NCBITaxon_2560080
Timothy grass allergy DOID_0060498 [A pollen allergy triggered by Phleum pratense pollen.]
pollen allergy DOID_0060497 [A respiratory allergy triggered by pollen.]
autoimmune neuropathy DOID_0060499 [An autoimmune disease of central nervous system caused by an autoimmune response.]
Schimke immuno-osseous dysplasia DOID_0060490 [A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.]
spondyloepimetaphyseal dysplasia DOID_0080027 [An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.]
SPOAN syndrome DOID_0060491 [A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.]
neurodegenerative disease DOID_1289 [A central nervous system disease that results in the progressive deterioration of function or structure of neurons.]
chicken egg allergy DOID_0060492 [An egg allergy triggered by Gallus gallus eggs.]
egg allergy DOID_4377 [A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.]