Ocular Albinism Type 1

Preferred Label : Ocular Albinism Type 1;

NCIt synonyms : OA1; Nettleship-Falls Syndrome;

NCIt definition : An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia.;

Details

Origin ID

C118785;

UMLS CUI

C0342684;

Currated CISMeF NLP mapping
- Albinism, ocular, type I [OMIM Phenotype]
- Ocular Albinism type 1 [MeSH concept]
- Ocular albinism, type I (disorder) [SNOMED CT concept]
- X-linked recessive ocular albinism [ORDO Disease]
- X-linked recessive ocular albinism [ICD-11 More detail]
- ocular albinism type 1 [MeSH Supplementary Concept]
- x-linked ocular albinism, nettleship type [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, ocular, type I [OMIM Phenotype]
- Ocular Albinism type 1 [MeSH concept]
- Ocular albinism, type I (disorder) [SNOMED CT concept]
- X-linked recessive ocular albinism [ORDO Disease]
- X-linked recessive ocular albinism [ICD-11 More detail]
- ocular albinism type 1 [MeSH Supplementary Concept]
- x-linked ocular albinism, nettleship type [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GPR143 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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