Aland island eye disease

Preferred Label : Aland island eye disease;

Symbol : AIED;

CISMeF acronym : AIED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Forsius-eriksson type ocular albinism;

Description : Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).;

Inheritance : X-linked;

Prefixed ID : #300600;

Details

Origin ID

300600;

UMLS CUI

C0268505;

Currated CISMeF NLP mapping
- Aland Island eye disease [DO Concept]
- Aland Islands eye disease (disorder) [SNOMED CT concept]
- Ocular albinism, type II (disorder) [Inactive SNOMED CT concept]
- aland island eye disease [MeSH concept]
- aland island eye disease [MeSH Supplementary Concept]
- Åland Island eye disease [ICD-11 More detail]
- Åland Islands eye disease [ORDO Disease]
DO Cross reference
- Aland Island eye disease [DO Concept]
False automatic mappings
- Anguilla [NCIt concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, alpha-1f subunit [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Albinism [HPO term]
- Astigmatism [HPO term]
- Hypoplasia of the fovea [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Severely reduced visual acuity [HPO term]
- X-linked inheritance [HPO term]
Not associated HPO term(s)
- Giant melanosomes in melanocytes [HPO term]
ORDO concept(s)
- Åland Islands eye disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aland Island eye disease [DO Concept]
- Ocular albinism, type II (disorder) [Inactive SNOMED CT concept]
- aland island eye disease [MeSH Supplementary Concept]
- aland island eye disease [MeSH concept]
- forsius-eriksson syndrome [SNOMED Notion]
- Åland Islands eye disease [ORDO Disease]

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