All terms in DOID

Label Id Description
Fanconi anemia complementation group R DOID_0111090 [A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.]
obsolete open angle with borderline glaucoma findings DOID_13398
obsolete atypical manic disorder DOID_13397
obsolete ganglioneuroma of the mediastinum DOID_12065
mediastinum neurofibroma DOID_12064
obsolete fetal blood loss DOID_12061
blindness DOID_1432 [An eye disease characterized by a lack or loss of vision.]
foramen for glossopharyngeal nerve UBERON_0018321
Dieulafoy lesion DOID_12070
obsolete interstitial emphysema and related conditions of newborn DOID_12076
pylorospasm DOID_12072
Mycobacterium avium complex sp. NCBITaxon_37162
unclassified Mycobacterium avium complex (MAC) NCBITaxon_2750822
deep corneal vascularisation DOID_12087
Abnormal circulating tyrosine concentration HP_0010917
Abnormal circulating aromatic amino acid concentration HP_0004338
transient arthropathy DOID_12084
methyl isocyanate CHEBI_59059
sarcosinemia DOID_0112307 [An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.]
Mahvash Disease DOID_0112306 [An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.]