childhood spinal muscular atrophy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	childhood spinal muscular atrophy	go back to main search page
Accession:	DOID:0060160	browse the term
Definition:	A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood. (DO)
Synonyms:	exact_synonym:	juvenile muscular atrophy; juvenile spinal muscular atrophy; spinal muscular atrophies of childhood; spinal muscular atrophy 1; spinal muscular atrophy of childhood; survival motor neuron spinal muscular atrophy
	primary_id:	MESH:D014897
	xref:	NCI:C85076; ORDO:70
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (6) Mouse (6) Human (240) Chinchilla (5) Bonobo (5) Dog (6) Squirrel (5) Pig (6) Green Monkey (5) Naked Mole-rat (5) All
Genes (6)

childhood spinal muscular atrophy

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein cytoplasmic 1 heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

G

survival of motor neuron 1, telomeric

CTD Direct Evidence: marker/mechanism

NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060

intermediate spinal muscular atrophy

term browser

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Object Name

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

survival of motor neuron 1, telomeric

ClinVar Annotator: match by term: Spinal muscular atrophy, type II

PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 More...

NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060

juvenile spinal muscular atrophy

term browser

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Object Name

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

survival of motor neuron 1, telomeric

ClinVar Annotator: match by term: Kugelberg-Welander disease

PMID:9158159 PMID:9199562 PMID:9590291 PMID:9668169 PMID:9818944 More...

NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060

Spinal Muscular Atrophy with Congenital Bone Fractures 1

term browser

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Object Name

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor interactor 4

ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1

PMID:25741868 PMID:26924529 PMID:28492532

NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774

Spinal Muscular Atrophy with Congenital Bone Fractures 2

term browser

Symbol

Object Name

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating signal cointegrator 1 complex subunit 1

ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2

PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 More...

NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272

spinal muscular atrophy with progressive myoclonic epilepsy

term browser

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Object Name

Evidence

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PubMed Reference(s)

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G

N-acylsphingosine amidohydrolase 1

ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY

PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 More...

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

Werdnig-Hoffmann disease

term browser

Symbol

Object Name

Evidence

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Source

PubMed Reference(s)

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Position

G

survival of motor neuron 1, telomeric

ClinVar Annotator: match by term: Werdnig-Hoffmann disease

PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 More...

NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060

G

VPS54 subunit of GARP complex

OMIM:253300

NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857

Term paths to the root

Path 1
Term	Annotations
disease	18246
Developmental Disease	13102
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	11857
genetic disease	11365
Nervous System Heredodegenerative Disorders	2429
childhood spinal muscular atrophy	6
Hamano Tsukamoto Syndrome	0
Monomelic Amyotrophy	0
Spinal Muscular Atrophy with Congenital Bone Fractures +	2
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	0
Werdnig-Hoffmann disease	2
intermediate spinal muscular atrophy	1
juvenile spinal muscular atrophy	1
spinal muscular atrophy type 0	0
spinal muscular atrophy with progressive myoclonic epilepsy	1
Path 2
Term	Annotations
disease	18246
disease of anatomical entity	17610
nervous system disease	13264
peripheral nervous system disease	3064
neuropathy	2846
neuromuscular disease	2236
motor neuron disease	492
spinal muscular atrophy	145
childhood spinal muscular atrophy	6
Hamano Tsukamoto Syndrome	0
Monomelic Amyotrophy	0
Spinal Muscular Atrophy with Congenital Bone Fractures +	2
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	0
Werdnig-Hoffmann disease	2
intermediate spinal muscular atrophy	1
juvenile spinal muscular atrophy	1
spinal muscular atrophy type 0	0
spinal muscular atrophy with progressive myoclonic epilepsy	1

paths to the root