Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Charcot-Marie-Tooth disease type 4J

Synonyms

CMT4J

Definitions

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.

ID

http://purl.obolibrary.org/obo/DOID_0110184

database_cross_reference

OMIM:611228

ICD10CM:G60.0

ORDO:139515

definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.

has exact synonym

CMT4J

autosomal recessive Charcot-Marie-Tooth disease type 4J

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0110184

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Charcot-Marie-Tooth disease type 4J

notation

DOID:0110184

prefLabel

Charcot-Marie-Tooth disease type 4J

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0050541

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_139515 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012640 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012640 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/611228 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134954 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C566984 Medical Subject Headings / 医学主题词表 LOOM