Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
polydactyly, postaxial, A9	EFO_0010250	[A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits.]
Dysostosis of genetic origin with limb anomaly as a major feature	Orphanet_404571
Genetic congenital limb malformation	Orphanet_183536
Spondyloperipheral dysplasia - short ulna	Orphanet_1856
Type 2 collagen-related bone disorder	Orphanet_93421
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Orphanet_253
spinocerebellar ataxia 48	EFO_0010251	[A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy.]
Autosomal dominant cerebellar ataxia type 1	Orphanet_94145	[Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.]
obsolete_Spondyloenchondrodysplasia	Orphanet_1855
obsolete_X-linked retinal dysplasia	Orphanet_1852
Pyropoikilocytosis	HP_0004839	[A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.]
Abnormal erythrocyte morphology	HP_0001877	[Any structural abnormality of erythrocytes (red-blood cells).]
Renal dysplasia - megalocystis - sirenomelia	Orphanet_1850
obsolete_multicystic dysplastic kidney	Orphanet_1851
isolated glycerol kinase deficiency	MONDO_0018459	[Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).]
inborn glycerol kinase deficiency	MONDO_0010613	[An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.]
has an isolated presentation	MONDO_0021128	[An characteristic of a disease in which the disease is manifested as an isolated feature.]
familial hypocalciuric hypercalcemia	MONDO_0018458	[Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.]
hypercalcemia disease	MONDO_0001566	[Abnormally high concentration of calcium in the peripheral blood.]
interstitial lung disease specific to childhood	MONDO_0017014	[A interstitial lung disease that occurs during childhood.]