Preferred Name

COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

Synonyms

COLOBOMA OF IRIS, CHOROID, AND RETINA

ID

http://purl.bioontology.org/ontology/OMIM/120200

altLabel

COLOBOMA OF IRIS, CHOROID, AND RETINA

COLOBOMA, UVEORETINAL

COI

cui

C0009363

C4554007

Gene Locus

11p13

Gene Symbol

FVH1

ASGD5

PAX6

MGDA

AN2

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

120200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

tui

T019

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http://purl.bioontology.org/ontology/ICD10CM/Q13.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D003103 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D003103 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/MONDO_0007350 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007350 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA24662-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI