Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Spinocerebellar Ataxia 17
Synonyms

Huntington Disease-Like 4
ID

http://purl.bioontology.org/ontology/MESH/C564616
altLabel

Huntington Disease-Like 4
cui

C1846707
HM

D020754
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D020754
MDA

20121105
MeSH Frequency

22
MMR

20160929
notation

C564616
prefLabel

Spinocerebellar Ataxia 17
SC

3
Scope Statement

An autosomal dominant spinocerebellar ataxia that is caused by expanison of TRINUCLEOTIDE REPEATS in the TATA-BOX BINDING PROTEIN (TBP) gene. It is phenotypically similar to HUNTINGTON DISEASE; affected individuals may experience ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. OMIM: 607136
TERMUI

T805242

T805239
TH

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/607136 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/607136 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/600075 Online Mendelian Inheritance in Man CUI