All terms in DOID

Label Id Description
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 heterozygous mutation in the TP63 gene on chromosome 3q28.]
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 postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35.]
Ornithodoros savignyi NCBITaxon_69826
carbamazepine NCIT_C3387 [A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.]
endometrium UBERON_0001295
Tetrapoda NCBITaxon_32523
myometrium UBERON_0001296
glans penis UBERON_0001299
Pyretophorus NCBITaxon_44537
Anopheles <genus> NCBITaxon_7164
Klebsiella pneumoniae NCBITaxon_573
Klebsiella pneumoniae complex NCBITaxon_3390273
trout food product FOODON_00002319
hypural UBERON_2000364
gambiae species complex NCBITaxon_44542