Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| persistent hyperplastic primary vitreous, autosomal recessive | MONDO_0009097 | [Autosomal recessive form of persistent hyperplastic primary vitreous.] |
| persistent hyperplastic primary vitreous | MONDO_0019631 | [A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)] |
| obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | MONDO_0009096 | |
| isolated sulfite oxidase deficiency | MONDO_0010089 | |
| encephalopathy due to sulfite oxidase deficiency | MONDO_0019358 | [Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.] |
| dermatoosteolysis, Kirghizian type | MONDO_0009095 | [Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.] |
| dermochondrocorneal dystrophy | MONDO_0009094 | [Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.] |
| polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly | MONDO_0009092 | [A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.] |
| non-acquired combined pituitary hormone deficiency with spine abnormalities | MONDO_0009091 | [Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.] |
| familial infantile bilateral striatal necrosis | MONDO_0010080 | [The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.] |
| subaortic stenosis-short stature syndrome | MONDO_0010082 | |
| succinic semialdehyde dehydrogenase deficiency | MONDO_0010083 | [Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.] |
| obsolete sudden infant death syndrome | MONDO_0010086 | [OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource.] |
| IGROV-1 | EFO_0005385 | |
| HepG3 | EFO_0005382 | |
| HMEC1 | EFO_0005383 | |
| JIMT-1 | EFO_0005388 | [Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0) Karyotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy Carry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs] |
| KARPAS 231 | EFO_0005389 | |
| obsolete_thiamine-responsive maple syrup urine disease | Orphanet_268184 | |
| INA-6 | EFO_0005386 |