Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
syndactyly type 1	MONDO_0008512	[Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.]
partial duplication of the long arm of chromosome 2	MONDO_0016953	[Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.]
proximal symphalangism	MONDO_0008511	[Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.]
symphalangism with multiple anomalies of hands and feet	MONDO_0008510	[Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.]
obsolete_mosaic trisomy 2	Orphanet_1723
High forehead	HP_0000348	[An abnormally increased height of the forehead.]
vasa recta ascending limb	UBERON_0009091
Posteriorly rotated ears	HP_0000358	[A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).]
chromosome 1 disorder	MONDO_0700008	[Chromosomal disorder in which chromosome 1 is affected.]
cholesteryl stearate	CHEBI_82750	[A cholesterol ester obtained by the formal condensation of the hydroxy group in cholesterol with the carboxy group of stearic acid.]
idiopathic	MONDO_0700005	[A disease characteristic in which the disease has an uncertain or unknown cause.]
obsolete_trisomy 4p	Orphanet_1738
chromosome 2 disorder	MONDO_0700009	[Chromosomal disorder in which chromosome 2 is affected.]
idiopathic vs non-idiopathic	MONDO_0700004	[A disease characteristic in which the cause of the disease is known or unknown.]
ALG9-associated autosomal dominant polycystic kidney disease	MONDO_0700000	[Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.]
Autosomal dominant polycystic kidney disease	EFO_1001496	[Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys., Autosomal dominant form of polycystic kidney disease.]
ATP1A3-associated neurological disorder	MONDO_0700002	[Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.]
Cryptococcus	NCBITaxon_5415
Abnormal autonomic nervous system physiology	HP_0012332	[A functional abnormality of the autonomic nervous system.]
isoflavone	CHEBI_18220	[A member of the isoflavones that has formula C15H10O2., An isoflavone that has formula C15H10O2.]