Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Charcot-Marie-Tooth disease type 4

Synonyms

hereditary motor and sensory neuropathy

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.

ID

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

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

GARD:12440

ORDO:64749

definition

A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.

has exact synonym

hereditary motor and sensory neuropathy

has_alternative_id

DOID:0050582

has_obo_namespace

disease_ontology

id

DOID:0050541

in_subset

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

label

Charcot-Marie-Tooth disease type 4

notation

DOID:0050541

prefLabel

Charcot-Marie-Tooth disease type 4

subClassOf

http://purl.obolibrary.org/obo/DOID_10595

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_64749 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018995 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018995 Experimental Factor Ontology / 实验性因素本体 LOOM