Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
paternal uniparental disomy of chromosome 20	MONDO_0019924	[Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.]
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	MONDO_0019923
paternal uniparental disomy of chromosome 5	MONDO_0019920	[Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.]
culture supernatant	BTO_0002217	[The clear fluid above a sediment or precipitate of a cell culture.]
Marshall syndrome	MONDO_0007949	[Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.]
Marfan syndrome	MONDO_0007947	[A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.]
Nager acrofacial dysostosis	MONDO_0007943	[Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.]
obsolete_partial duplication of chromosome 4	Orphanet_262206
maternal uniparental disomy of chromosome 22	MONDO_0019919
maternal uniparental disomy of chromosome 21	MONDO_0019918
dalton	UO_0000221	[An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state., A dalton is a mass unit is an independent unit to the base SI units and is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state.]
obsolete_Heinz body anemia	Orphanet_178330
obsolete rare otorhinolaryngological malformation	MONDO_0019936
Åland Islands eye disease	Orphanet_178333	[Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.]
obsolete_UV-sensitive syndrome	Orphanet_178338
Leydig cell hypoplasia due to partial LH resistance	MONDO_0019931
Leydig cell hypoplasia due to complete LH resistance	MONDO_0019930
corneal dystrophy, Meesmann, 2	MONDO_0032904
spastic paraplegia 81, autosomal recessive	MONDO_0032905
Joubert syndrome 36	MONDO_0032902