Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neoplasm of oropharynx	MONDO_0021364	[A neoplasm (disease) that involves the oropharynx.]
pharynx neoplasm	MONDO_0021246	[A neoplasm (disease) that involves the pharynx.]
neoplasm of middle ear	MONDO_0021366	[A neoplasm (disease) that involves the middle ear.]
obsolete_Preaxial polydactyly of toes, unilateral	Orphanet_295175
neoplasm of major salivary gland	MONDO_0021368	[A neoplasm (disease) that involves the major salivary gland.]
obsolete_Prader-Willi syndrome due to translocation	Orphanet_177907
obsolete_central polydactyly of fingers, bilateral	Orphanet_295173
Postaxial polydactyly of toes, unilateral	Orphanet_295179
obsolete_Preaxial polydactyly of toes, bilateral	Orphanet_295177
autosomal dominant Robinow syndrome	MONDO_0008389	[Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.]
intellectual disability, autosomal dominant	MONDO_0100172
Robinow syndrome	MONDO_0019978	[Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.]
ringed hair disease	MONDO_0008388	[Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.]
ring dermoid of cornea	MONDO_0008387	[Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.]
tumor of parathyroid gland	MONDO_0021360	[A neoplasm (disease) that involves the parathyroid gland.]
Ruvalcaba syndrome	MONDO_0008395	[Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.]
cimetidine	CHEBI_3699
Silver-Russell syndrome	MONDO_0008394	[Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.]
Rubinstein-Taybi syndrome due to CREBBP mutations	MONDO_0008393	[Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.]
dysostosis with brachydactyly with extraskeletal manifestations	MONDO_0800094