Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
atypical Rett syndrome	MONDO_0017746	[Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).]
glycoprotein metabolism disease	MONDO_0045010	[A disease that has its basis in the disruption of glycoprotein metabolic process.]
adductor mandibulae	UBERON_0011683	[An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment.]
disorder of metabolite absorption and transport	MONDO_0017757
porphyrin metabolism disease	MONDO_0037821	[A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.]
GM15144	CLO_0029916	[DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION]
defect in V-ATPase	MONDO_0017752
obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation	MONDO_0017753
46,XY gonadal dysgenesis - motor and sensory neuropathy	Orphanet_168563
obsolete_H syndrome	Orphanet_168569	[H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).]
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3	Orphanet_168566	[Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.]
acquired immunodeficiency	MONDO_0017769
disorder of mineral absorption and transport	MONDO_0017761
disorder of manganese transport	MONDO_0017766
Marin-Amat syndrome	MONDO_0015101
1-arachidonoyl-sn-glycero-3-phosphoethanolamine	CHEBI_64395	[A 1-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as arachidonoyl.]
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism	Orphanet_168552
Ventouse delivery	HP_0011412	[Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.]
testicular sex cord-stromal neoplasm	MONDO_0003125	[A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.]
Forceps delivery	HP_0011411