Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Rubinstein-Taybi syndrome	MONDO_0019188	[A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.]
Roussy-Levy syndrome	MONDO_0008392
autosomal dominant hereditary demyelinating motor and sensory neuropathy	MONDO_0015359
Rombo syndrome	MONDO_0008390	[Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.]
Epinephelus coioides	NCBITaxon_94232
obsolete_familial papillary or follicular thyroid carcinoma	Orphanet_319487
male reproductive system neoplasm	MONDO_0024582	[A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.]
obsolete_acute myeloid leukemia with CEBPA somatic mutations	Orphanet_319480
obsolete_Prader-Willi syndrome due to imprinting mutation	Orphanet_177910
neoplasm of neck	MONDO_0021351	[A neoplasm (disease) that involves the neck.]
Postaxial polydactyly of toes, bilateral	Orphanet_295181
tumor of adipose tissue	MONDO_0021354	[A neoplasm (disease) that involves the adipose tissue.]
neoplasm of esophagus	MONDO_0021355	[A neoplasm (disease) that involves the esophagus.]
neoplasm of thorax	MONDO_0021350	[A neoplasm (disease) that involves the thoracic segment of trunk.]
Central polydactyly of toes, bilateral	Orphanet_295185
neoplasm of hypopharynx	MONDO_0021358	[A neoplasm (disease) that involves the hypopharynx.]
Central polydactyly of toes, unilateral	Orphanet_295183
obsolete_zygodactyly type 2	Orphanet_295189
obsolete_zygodactyly type 1	Orphanet_295187
aplasia of lacrimal and salivary glands	MONDO_0008397	[Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.]