Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_15q11q13 microduplication syndrome	Orphanet_238446	[The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.]
homocystinuria without methylmalonic aciduria	MONDO_0018964	[Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).]
congenitally uncorrected transposition of the great arteries with cardiac malformation	MONDO_0016303
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	MONDO_0018967
congenital agammaglobulinemia	MONDO_0001902	[An instance of agammaglobulinemia that is present from birth.]
isolated growth hormone deficiency type III	MONDO_0010615
classic pantothenate kinase-associated neurodegeneration	MONDO_0016304
pantothenate kinase-associated neurodegeneration	MONDO_0009319	[Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.]
atypical pantothenate kinase-associated neurodegeneration	MONDO_0016305
familial melanoma	MONDO_0018961	[Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.]
Abnormal ventricular septum morphology	HP_0010438	[A structural abnormality of the interventricular septum.]
Abnormal cardiac septum morphology	HP_0001671	[An anomaly of the intra-atrial or intraventricular septum.]
methemoglobinemia	MONDO_0001117	[An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.]
common mesentery	MONDO_0018962
peritrophic membrane	BTO_0001038	[A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut.]
midgut	UBERON_0001045	[Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO].]
obsolete_intermediate severe Salla disease	Orphanet_309331
C1R cell	BTO_0003699	[The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line.]
obsolete_Salla disease	Orphanet_309334
endometrial mixed adenocarcinoma	MONDO_0004321	[An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.]