Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
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 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G 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
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 More... NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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 OMIM
ClinVar
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
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 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
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: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
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: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY OMIM
ClinVar
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
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 OMIM
ClinVar
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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  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 click to browse term
  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