Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pernicious anemia	DOID_13381	[A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.]
Fanconi anemia complementation group L	DOID_0111082	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.]
obsolete acute pyelonephritis with lesion of renal medullary necrosis	DOID_13380
Fanconi anemia complementation group D2	DOID_0111083	[A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.]
Oligoryzomys	NCBITaxon_29120
labia majora carcinoma	DOID_13389	[A vulva carcinoma that is located_in the labia majora.]
labium majora	UBERON_0004085
obsolete Fetal-maternal hemorrhage affecting management of mother	DOID_12058
Fanconi anemia complementation group I	DOID_0111091	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.]
susceptibility to hirschsprung disease 1	OMIM_142623
Fanconi anemia complementation group P	DOID_0111092	[A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.]
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