aland island eye disease

Preferred Label : aland island eye disease;

MeSH note : PROM mutation in CACNA1F;

MeSH synonym : Forsius-Eriksson type ocular albinism;

Origin ID

C562664;

UMLS CUI

C0268505;

Currated CISMeF NLP mapping
- Aland Island eye disease [DO Concept]
- Aland Islands eye disease (disorder) [SNOMED CT concept]
- Aland island eye disease [OMIM Phenotype]
- Ocular albinism, type II (disorder) [Inactive SNOMED CT concept]
- Åland Island eye disease [ICD-11 More detail]
- Åland Islands eye disease [ORDO Disease]
DO Cross reference
- Aland Island eye disease [DO Concept]
MeSH term(s) associated for indexing
- albinism, ocular [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
Record concept(s)
- aland island eye disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aland Island eye disease [DO Concept]
- Aland island eye disease [OMIM Phenotype]
- Ocular albinism, type II (disorder) [Inactive SNOMED CT concept]
- forsius-eriksson syndrome [SNOMED Notion]
- Åland Islands eye disease [ORDO Disease]