Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Spastic Paraplegia 39, Autosomal Recessive
Synonyms	NTEMND SPG39 NTE-Related Motor Neuron Disorder
ID	http://purl.bioontology.org/ontology/MESH/C567433
altLabel	NTEMND SPG39 NTE-Related Motor Neuron Disorder
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	T824017 T824016 T810404 T824018
TH	OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/719103009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/603197	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/719103009	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/612020	OMIM	CUI
http://identifiers.org/omim/612020	REXO	LOOM
http://identifiers.org/omim/612020	GEXO	LOOM
http://identifiers.org/omim/612020	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_612020	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567433	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/612020	OMIM	LOOM