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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:Canavan disease
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Accession:DOID:3613 term browser browse the term
Definition:A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)
Synonyms:exact_synonym: ACY2 deficiency;   ASP Deficiency;   ASPA Deficiency;   Aminoacylase 2 Deficiency;   Aspartoacylase Deficiency;   Aspartoacylase Deficiency Disease;   Canavan Disease, Familial Form;   Canavan Disease, Mild;   Canavan Disease, Sporadic Form;   Canavan van Bogaert Bertrand Disease;   Infantile Canavan Disease;   Juvenile Canavan Disease;   Neonatal Canavan Disease;   Spongiform Leukodystrophy;   Spongy Degeneration Of Central Nervous System;   Spongy Degeneration of Infancy;   Spongy Degeneration of White Matter In Infancy;   Spongy Degeneration of the Brain;   Spongy Degeneration of the Central Nervous System;   Spongy Disease of Central Nervous System;   Spongy Disease of White Matter;   Type I Canavan Disease;   Type II Canavan Disease;   Type III Canavan Disease;   Van Bogaert Bertrand Syndrome;   Von Bogaert Bertrand disease;   familial form of Canavan disease;   sporadic form of Canavan disease
 primary_id: MESH:D017825
 alt_id: OMIM:271900
 xref: GARD:5984;   NCI:C84611
For additional species annotation, visit the Alliance of Genome Resources.


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Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase susceptibility ISO
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:271900
ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... RGD:1599291, RGD:1599298 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Camkk1 calcium/calmodulin-dependent protein kinase kinase 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,637,335...57,660,498
Ensembl chr10:57,637,391...57,660,498 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,794,072...57,795,671
Ensembl chr10:57,793,685...57,796,217 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,747,731...57,750,518
Ensembl chr10:57,747,573...57,750,512 		JBrowse link
G Itgae integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,704,813...57,764,093
Ensembl chr10:57,591,753...57,764,093
Ensembl chr10:57,591,753...57,764,093 		JBrowse link
G Ncbp3 nuclear cap binding subunit 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,665,716...57,695,432
Ensembl chr10:57,665,716...57,695,432 		JBrowse link
G P2rx1 purinergic receptor P2X 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,618,586...57,633,648
Ensembl chr10:57,618,586...57,633,623 		JBrowse link
G P2rx5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,777,737...57,789,426
Ensembl chr10:57,777,819...57,789,423 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          Nervous System Heredodegenerative Disorders 3255
            Canavan disease 17
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                Canavan disease 17
paths to the root