RGD DISEASE ONTOLOGY - ANNOTATIONS
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
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 .
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Smn1
survival of motor neuron 1, telomeric
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17924536
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Smn1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, type II
OMIM ClinVar
PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10369311 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21811307 PMID:21920940 PMID:22750651 PMID:22813737 PMID:22975760 PMID:23112048 PMID:24498607 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 PMID:33062891 PMID:33090613 PMID:33892995 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Smn1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Kugelberg-Welander disease
OMIM ClinVar
PMID:9158159 PMID:9199562 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10339583 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17635841 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:20301526 PMID:21082361 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22323744 PMID:22813737 PMID:23022347 PMID:23073312 PMID:23112048 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 PMID:33062891 PMID:33090613 PMID:33892995 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Trip4
thyroid hormone receptor interactor 4
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1
OMIM ClinVar
PMID:25741868 PMID:26924529 PMID:28492532
NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2
OMIM ClinVar
PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 PMID:28749478 PMID:30327447 PMID:31680123 PMID:31880396 More...
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
OMIM ClinVar
PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27723502 PMID:28492532 PMID:29169047 PMID:29358611 More...
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Smn1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Werdnig-Hoffmann disease
OMIM ClinVar
PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 PMID:10205265 PMID:10500148 PMID:10556301 PMID:10679938 PMID:10732817 PMID:11078511 PMID:11313744 PMID:11572858 PMID:12374765 PMID:12833158 PMID:14715275 PMID:14749338 PMID:15249625 PMID:15580564 PMID:15975577 PMID:16301532 PMID:17049859 PMID:17635841 PMID:17998247 PMID:18155522 PMID:18172693 PMID:19050931 PMID:21209906 PMID:21329463 PMID:21584334 PMID:21673580 PMID:22101937 PMID:23136128 PMID:23615451 PMID:25144193 PMID:25525159 PMID:25741868 PMID:25844556 PMID:26467025 PMID:26509018 PMID:26606804 PMID:27425821 PMID:28570645 PMID:29982416 PMID:31156382 PMID:31301241 More...
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Vps54
VPS54 subunit of GARP complex
ISS
OMIM:253300
MouseDO
NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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