Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hyperprolinemia type 1	MONDO_0009400	[Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).]
obsolete_hereditary poikiloderma	Orphanet_222628
X-linked myopathy with postural muscle atrophy	MONDO_0010401	[X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.]
Rare hereditary systemic disease with peripheral neuropathy	Orphanet_207021
Disease with focal palmoplantar keratoderma as a major feature	Orphanet_307871
Woodhouse-Sakati syndrome	MONDO_0009419	[Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.]
3-hydroxybutyrylcarnitine	CHEBI_72995	[An O-acylcarnitine having 3-hydroxybutyryl as the acyl substituent.]
hypergonadotropic hypogonadism-cataract syndrome	MONDO_0009417	[This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.]
hypoinsulinemic hypoglycemia and body hemihypertrophy	MONDO_0009416
glycogen storage disorder due to hepatic glycogen synthase deficiency	MONDO_0009414	[Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.]
immunodeficiency, common variable, 2	MONDO_0009413
autoimmune polyendocrine syndrome type 1	MONDO_0009411	[Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.]
Bacteroides vulgatus	NCBITaxon_821
obsolete Addison disease	MONDO_0009410
X-linked intellectual disability-craniofacioskeletal syndrome	MONDO_0010412	[X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.]
Ulnar bowing	HP_0003031	[Bending of the diaphysis (shaft) of the ulna.]
Joint hyperflexibility	HP_0005692	[Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.]
Joint hypermobility	HP_0001382	[The ability of a joint to move beyond its normal range of motion.]
Rare disease with corpus callosum agenesis associated with peripheral neuropathy	Orphanet_207031
Rare hereditary neurologic disease with peripheral neuropathy	Orphanet_207025