Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
apodia	MONDO_0017446
congenital absence/hypoplasia of thumb, unilateral	MONDO_0017506	[Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.]
congenital absence/hypoplasia of thumb	MONDO_0017447	[Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.]
congenital absence/hypoplasia of thumb, bilateral	MONDO_0017507	[Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.]
congenital absence/hypoplasia of fingers excluding thumb, bilateral	MONDO_0017508
congenital absence of both lower leg and foot, bilateral	MONDO_0017501
congenital absence of both lower leg and foot	MONDO_0017444
acheiria, unilateral	MONDO_0017502
acheiria	MONDO_0017445
acheiria, bilateral	MONDO_0017503
apodia, unilateral	MONDO_0017504
obsolete_adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	Orphanet_276608
congenital absence of both lower leg and foot, unilateral	MONDO_0017500
obsolete_diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Orphanet_276603
obsolete_isolated osteopoikilosis	Orphanet_166119
Bazex syndrome	Orphanet_166113
brachydactyly of fingers, bilateral	MONDO_0017516
non-syndromic brachydactyly of fingers	MONDO_0017451	[A non-syndromic brachydactyly that involves the manus.]
brachydactyly of toes, unilateral	MONDO_0017517
non-syndromic brachydactyly of toes	MONDO_0017452	[A non-syndromic brachydactyly that involves the pes.]