Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
microcephalic osteodysplastic dysplasia, Saul-Wilson type	MONDO_0019407	[A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.]
phosphatidylcholine 38:7 measurement	EFO_0021475	[Quantification of phosphatidylcholine 38:7 in a sample.]
Spastic paraparesis - deafness	Orphanet_2815
craniofacial conodysplasia	MONDO_0019406	[Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.]
phosphatidylcholine 36:6 measurement	EFO_0021474	[Quantification of phosphatidylcholine 36:6 in a sample.]
choline phosphate(1-)	CHEBI_295975	[The organophosphate oxoanion formed from choline by removal of two protons from the phosphate group. Major species at pH 7.3.]
phosphatidylcholine 34:5 measurement	EFO_0021471	[Quantification of phosphatidylcholine 34:5 in a sample.]
beta thalassemia	MONDO_0019402	[Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).]
obsolete_1q41q42 microdeletion syndrome	Orphanet_250999	[1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.]
phosphatidylcholine 33:2 measurement	EFO_0021470	[Quantification of phosphatidylcholine 33:2 in a sample.]
1q21.1 microduplication syndrome	Orphanet_250994
deafness-craniofacial syndrome	MONDO_0007428	[Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.]
obsolete_autosomal recessive sideroblastic anemia	Orphanet_260305
autosomal dominant nonsyndromic hearing loss 1	MONDO_0007424	[Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.]
obsolete_Parana hard-skin syndrome	Orphanet_2812
deafness-ear malformation-facial palsy syndrome	MONDO_0007421	[Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.]
keratoderma hereditarium mutilans	MONDO_0007422
obsolete_partial duplication of the long arm of chromosome 17	Orphanet_262968
autosomal dominant deafness - onychodystrophy syndrome	MONDO_0007420	[Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.]
phosphatidylcholine 33:1 measurement	EFO_0021469	[Quantification of phosphatidylcholine 33:1 in a sample.]