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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
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Accession:DOID:0060160 term browser 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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childhood spinal muscular atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924536 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
intermediate spinal muscular atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:21920940 PMID:22750651 PMID:22813737 PMID:22975760 PMID:23112048 PMID:24498607 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
juvenile spinal muscular atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Kugelberg-Welander disease ClinVar
OMIM		 PMID:9158159 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: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 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1		 ClinVar
OMIM		 PMID:25741868 PMID:26924529 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 PMID:28749478 PMID:30327447 PMID:31680123 PMID:31880396 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy
ClinVar Annotator: match by term: Jankovic Rivera syndrome
ClinVar Annotator: match by OMIM:159950		 OMIM
ClinVar		 PMID:22703880 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26526000 PMID:28492532 PMID:29169047 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836 		JBrowse link
Werdnig-Hoffmann disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: Werdnig-Hoffmann disease ClinVar
OMIM		 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:17049859 PMID:17635841 PMID:18155522 PMID:19050931 PMID:21329463 PMID:21584334 PMID:21673580 PMID:23136128 PMID:23615451 PMID:25144193 PMID:25741868 PMID:25844556 PMID:26467025 PMID:26509018 PMID:26606804 PMID:27425821 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:253300 MouseDO NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          Nervous System Heredodegenerative Disorders 1977
            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 click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              motor neuron disease 386
                spinal muscular atrophy 125
                  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