Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal recessive centronuclear myopathy	MONDO_0015705	[Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.]
Jervell and Lange-Nielsen syndrome	MONDO_0002441	[An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.]
obsolete_genetic central nervous system and retinal vascular disease	Orphanet_183503
1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine	CHEBI_74000	[A phosphatidylcholine 32:1 in which the acyl groups at C-1 and C-2 are hexadecanoyl and (9Z)-hexadec-9-enoyl respectively.]
obsolete_Laubry-Pezzi syndrome	Orphanet_99094
portion of plant tissue	PO_0009007	[A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types.]
Multiple ventricular septal defects	Orphanet_99096
Gerbode defect	Orphanet_99095
Single ventricular septal defect	Orphanet_99097
fruit	PO_0009001	[A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010).]
Treacher-Collins syndrome	MONDO_0002457	[Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.]
syndromic palpebral coloboma	MONDO_0020157
retrocochlear disease	MONDO_0002453	[Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.]
prostatic adenoma	MONDO_0002450	[Focal benign glandular hyperplasia in the prostate gland.]
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	MONDO_0014429	[A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).]
Rare genetic medullar disease	Orphanet_183515
seed	PO_0009010	[A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088).]
congenital analbuminemia	MONDO_0014449	[Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).]
B cell deficiency	MONDO_0002211	[A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.]
fast muscle tissue	UBERON_0006908	[The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers.]