Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Abnormality of prenatal development or birth	HP_0001197	[An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.]
obsolete_late infantile CACH syndrome	Orphanet_157716
Short neck	HP_0000470	[Diminished length of the neck.]
Abnormality of the cervical spine	HP_0003319	[Any abnormality of the cervical vertebral column.]
Gastrointestinal angiodysplasia	HP_0000471	[Dysplasia affecting the vasculature of the gastrointestinal tract.]
Abnormality of gastrointestinal vasculature	HP_0004296
obsolete_congenital or early infantile CACH syndrome	Orphanet_157713
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	MONDO_0014089
Callicebus cupreus	NCBITaxon_202457
cryptosporidiosis-chronic cholangitis-liver disease syndrome	MONDO_0014082
obsolete_juvenile or adult CACH syndrome	Orphanet_157719
severe combined immunodeficiency due to CARD11 deficiency	MONDO_0014081	[Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.]
T+ B+ severe combined immunodeficiency	MONDO_0044201
osteosclerotic metaphyseal dysplasia	MONDO_0014080
osteopetrosis	MONDO_0017198	[Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.]
obsolete_left ventricular noncompaction	EFO_0002632
obsolete_arrhythmogenic right ventricular cardiomyopathy	EFO_0002631
hypopharynx anlage	FBbt_00005442
Chronic constipation	HP_0012450	[Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.]
Constipation	HP_0002019	[Infrequent or difficult evacuation of feces.]