Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Greenberg dysplasia	Orphanet_1426
obsolete_lethal recessive chondrodysplasia	Orphanet_1423
obsolete_lethal chondrodysplasia, Seller type	Orphanet_1421
Chondrodysplasia - disorder of sex development	Orphanet_1422
Primary bone dysplasia with micromelia	Orphanet_364536
Syndrome with disorder of sex development of gynecological interest	Orphanet_325638
Syndrome with 46,XY disorder of sex development	Orphanet_98087
autosomal dominant common variable immunodeficiency	EFO_0020035	[Common variable immunodeficiency (CVID), autosomal dominant, comprises a disease characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.]
Inherited cancer-predisposing syndrome	Orphanet_140162
inborn errors of immunity	MONDO_0003778	[A disorder in which the immune system is unable to mount an adequate immune response.]
autosomal recessive nemaline myopathy	EFO_0020036
autosominal recessive combined pituitary hormone deficiency	EFO_0020037
Combined pituitary hormone deficiencies, genetic forms	Orphanet_95494
megacystis-microcolon-intestinal hypoperistalsis syndrome 5	EFO_0020038	[Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014).]
megacystis-microcolon-intestinal hypoperistalsis syndrome	MONDO_0025986
mononeuropathy of the median nerve	EFO_0020031	[Disease or trauma involving the median nerve in isolation, or out of proportion to evidence of diffuse median nerve dysfunction.]
autosomal recessive transient neonatal diabetes mellitus	EFO_0020032	[Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.]
transient neonatal diabetes, dominant/recessive	EFO_0020040	[Hereditary transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous dominant/recessive form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.]
autosomal recessive congenital stationary night blindness	EFO_0020033
familial Behcet-like autoinflammatory syndrome	EFO_0020034	[A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.]