Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FUNDUS ALBIPUNCTATUS

Synonyms

RETINITIS PUNCTATA ALBESCENS

ID

http://purl.bioontology.org/ontology/OMIM/136880

altLabel

RETINITIS PUNCTATA ALBESCENS

cui

C0311338

C1405854

Gene Locus

12q13-q14

Gene Symbol

RDH5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU053449

http://purl.bioontology.org/ontology/OMIM/MTHU003279

http://purl.bioontology.org/ontology/OMIM/MTHU053453

http://purl.bioontology.org/ontology/OMIM/MTHU053447

http://purl.bioontology.org/ontology/OMIM/MTHU053450

http://purl.bioontology.org/ontology/OMIM/MTHU053448

http://purl.bioontology.org/ontology/OMIM/MTHU053452

http://purl.bioontology.org/ontology/OMIM/MTHU053446

http://purl.bioontology.org/ontology/OMIM/MTHU053451

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

136880

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FUNDUS ALBIPUNCTATUS

tui

T047

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http://purl.bioontology.org/ontology/MESH/C562733 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562733 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562733 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_11105 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/H35.52 International Classification of Diseases, Version 10 - Clinical Modification CUI