Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Hereditary Motor And Sensory Neuropathy, Type IIC

Synonyms

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C

ID

http://purl.bioontology.org/ontology/MESH/C565261

altLabel

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C

HMSN2C

Charcot-Marie-Tooth Neuropathy, Type 2C

HMSN IIC

CMT2C

cui

C1853710

HM

D002607

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D002607

MDA

20121105

MeSH Frequency

0

notation

C565261

prefLabel

Hereditary Motor And Sensory Neuropathy, Type IIC

SC

3

Scope Statement

mutation in TRPV4

TERMUI

T823650

T823652

T823651

T823648

T823649

T823647

TH

NLM (2013)

OMIM (2013)

tui

T047

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http://purl.bioontology.org/ontology/OMIM/606071 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/606071 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/605427 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI