Stargardt disease 1

Preferred Label : Stargardt disease 1;

Symbol : STGD1;

CISMeF acronym : FFM; STGD; STGD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular degeneration, juvenile; Macular dystrophy with flecks, type 1; STGD;

Included titles and symbols : Fundus flavimaculatus; Retinal dystrophy, early-onset severe; FFM;

Inheritance : Autosomal recessive;

Prefixed ID : #248200;

Détails

Origin ID

248200;

UMLS CUI

C1855465;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 4 [ORDO Gene]
- Juvenile macular degeneration [MeSH concept]
- S-TGD-1 [MeSH concept]
- S-TGD-1 [MeSH Supplementary Concept]
- Severe early-childhood-onset retinal dystrophy [ORDO Disease]
- symbol withdrawn STGD1 [HGNC gene]
Broader ORDO disease(s)
- Stargardt disease [ORDO Disease]
Currated CISMeF NLP mapping
- Fundus flavimaculatus [PASCAL descriptor]
- Fundus flavimaculatus (disorder) [SNOMED CT concept]
- Stargardt disease [DO Concept]
- Stargardt disease [ICD-11 More detail]
- Stargardt disease [ORDO Disease]
- Stargardt disease 1 [MeSH concept]
- Stargardt disease type 1 [Disease (Nov.)]
- fundus flavimaculatus [SNOMED Notion]
DO Cross reference
- Stargardt disease [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Central retinitis pigmentosa [HPO term]
- Macular degeneration [HPO term]
- Retinitis pigmentosa inversa [HPO term]
ORDO concept(s)
- Stargardt disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stargardt disease 1 [MeSH concept]
- Stargardt disease type 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Stargardt Disease [MeSH Descriptor]
- Stargardt disease [Disease (Nov.)]

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