Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Askin's tumor	DOID_0050608	[An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.]
Usher syndrome type 2C	DOID_0110839	[An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.]
Usher syndrome type 1J	DOID_0110836	[An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.]
Usher syndrome type 1K	DOID_0110837	[An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.]
Usher syndrome type 1G	DOID_0110834	[An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.]
central nervous system hemangioma	DOID_501
Usher syndrome type 1H	DOID_0110835	[An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.]
ADULT syndrome	DOID_0050601	[A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.]
ABCD syndrome	DOID_0050600	[A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).]
acheiropody	DOID_0050603	[An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.]
triple-A syndrome	DOID_0050602	[A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.]
acrodermatitis enteropathica	DOID_0050605	[A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.]
acrocapitofemoral dysplasia	DOID_0050604	[An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.]
Tetrapoda	NCBITaxon_32523
myometrium	UBERON_0001296
glans penis	UBERON_0001299
Pyretophorus	NCBITaxon_44537
trout food product	FOODON_00002319
hypural	UBERON_2000364
gambiae species complex	NCBITaxon_44542