Preferred Name

STARGARDT DISEASE 4

Synonyms

STGD4

ID

http://purl.bioontology.org/ontology/OMIM/603786

altLabel

STGD4

cui

C1863534

Gene Locus

4p15.3

Gene Symbol

MCDR2

RP41

PROML1

PROM1

AC133

STGD4

CORD12

CD133

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU068390

http://purl.bioontology.org/ontology/OMIM/MTHU068392

http://purl.bioontology.org/ontology/OMIM/MTHU068389

http://purl.bioontology.org/ontology/OMIM/MTHU068391

http://purl.bioontology.org/ontology/OMIM/MTHU001845

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

603786

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

STARGARDT DISEASE 4

Scope Statement

Caused by mutation in the prominin 1 gene (PROM1, 604365.0003) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011370 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C535521 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535521 Medical Subject Headings / 医学主题词表 LOOM