(Q55784494)

English

progressive retinal dystrophy due to retinol transport defect

human disease

RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
RDCCAS

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Statements

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class of disease

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disorder of other vitamins and cofactors metabolism and transport

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

hereditary retinal dystrophy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

http://www.orpha.net/ORDO/Orphanet_352718

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Identifiers

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1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

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