Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
9-HODE	CHEBI_72651	[A HODE that consists of (10E,12Z)-octadecadienoic acid with the hydroxy substituent located at position 9.]
BK-virus nephropathy	MONDO_0022529
hantavirus hemorrhagic fever with renal syndrome	MONDO_0005784	[A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.]
obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	Orphanet_209341
Drechslera sp.	NCBITaxon_67606
obsolete_adult-onset proximal spinal muscular atrophy, autosomal dominant	Orphanet_209335
obsolete_partial deletion of the short arm of chromosome 8	Orphanet_261920
mandibulofacial dysostosis with mental deficiency	MONDO_0009559
Bazex-Dupre-Christol syndrome	MONDO_0010535	[Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.]
mandibuloacral dysplasia with type A lipodystrophy	MONDO_0009557	[A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.]
Zinc deficiency	EFO_1000003	[A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. ]
Abnormal blood zinc concentration	HP_0008277	[An abnormality of zinc ion homeostasis.]
Mononen-Karnes-Senac syndrome	MONDO_0010538	[Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.]
malonic aciduria	MONDO_0009556	[Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).]
Borjeson-Forssman-Lehmann syndrome	MONDO_0010537	[Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.]
Acidithiobacillus ferrooxidans	NCBITaxon_920
X-linked mandibulofacial dysostosis	MONDO_0010539	[X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.]
mal de Meleda	MONDO_0009552	[Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.]
lobar bronchus	UBERON_0002183	[The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO].]
alpha-mannosidosis	MONDO_0009561	[Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.]