Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Spastic Paraplegia 39, Autosomal Recessive

Synonyms

SPG39

ID

http://purl.bioontology.org/ontology/MESH/C567433

altLabel

SPG39

NTE-Related Motor Neuron Disorder

NTEMND

cui

C2677586

HM

D015419

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D015419

MDA

20121105

MeSH Frequency

1

notation

C567433

prefLabel

Spastic Paraplegia 39, Autosomal Recessive

SC

3

Scope Statement

mutation in PNPLA6

TERMUI

T810404

T824018

T824016

T824017

TH

OMIM (2013)

tui

T047

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/603197 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/612020 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/612020 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM