Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	MONDO_0016195
scapuloperoneal myopathy	MONDO_0000727	[A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.]
Carassius auratus	NCBITaxon_7957
neurogenic scapuloperoneal syndrome, Kaeser type	MONDO_0008407
autosomal recessive Emery-Dreifuss muscular dystrophy	MONDO_0008406	[Autosomal recessive form of Emery-Dreifuss muscular dystrophy.]
Emery-Dreifuss muscular dystrophy	MONDO_0016830	[Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.]
Danio rerio	NCBITaxon_7955
scalp-ear-nipple syndrome	MONDO_0008404	[Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.]
deficient breast volume or number	MONDO_0015853
scalp defects-postaxial polydactyly syndrome	MONDO_0008403	[Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.]
cleft palate-large ears-small head syndrome	MONDO_0008402	[Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.]
Hydrocephalus	HP_0000238	[Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.]
corticosteroid-binding globulin measurement	EFO_0020288	[The determination of the amount of corticosteroid-binding globulin in a sample]
corticotropin measurement	EFO_0020289	[The determination of the amount of corticotropin in a sample]
Brachycephaly	HP_0000248	[An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.]
connective tissue growth factor measurement	EFO_0020284	[The determination of the amount of connective tissue growth factor in a sample]
connective tissue-activating peptide III measurement	EFO_0020285	[The determination of the amount of connective tissue-activating peptide III in a sample]
obsolete_Distal monosomy 5q	Orphanet_1627	[Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects.]
contactin-1 measurement	EFO_0020286	[The determination of the amount of contactin-1 in a sample]
contactin-4 measurement	EFO_0020287	[The determination of the amount of contactin-4 in a sample]