Preferred Name

MUCOLIPIN 1

Synonyms

MUCOLIPIDOSIS IV

ID

http://purl.bioontology.org/ontology/OMIM/605248

altLabel

MUCOLIPIDOSIS IV

ML4 GENE

TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 1

MCOLN1

TRPML1

MUCOLIPIDIN

cui

C0238286

C1421947

Gene Locus

19p13.3-p13.2

Gene Symbol

ML4

MCOLN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605248.0002

http://purl.bioontology.org/ontology/OMIM/605248.0006

http://purl.bioontology.org/ontology/OMIM/605248.0007

http://purl.bioontology.org/ontology/OMIM/605248.0008

http://purl.bioontology.org/ontology/OMIM/605248.0003

http://purl.bioontology.org/ontology/OMIM/605248.0005

http://purl.bioontology.org/ontology/OMIM/605248.0004

http://purl.bioontology.org/ontology/OMIM/605248.0009

http://purl.bioontology.org/ontology/OMIM/605248.0001

MIMTYPEMEANING

Gene with known sequence

notation

605248

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

MUCOLIPIN 1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D009081 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP32675-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.obolibrary.org/obo/PR_000010252 Protein Ontology / 蛋白质本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.11 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI