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RGD uses the Human Disease Ontology (DO, 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:Martsolf Syndrome 2
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Accession:DOID:9000980 term browser browse the term
Definition:An autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Caused by homozygous mutation in the gene encoding the catalytic subunit of RAB3 GTPase-activating protein (RAB3GAP1) on chromosome 2q21. (OMIM)
Synonyms:exact_synonym: MARTS2
 primary_id: OMIM:619420
For additional species annotation, visit the Alliance of Genome Resources.

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Martsolf Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 2 OMIM
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Martsolf Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    Martsolf Syndrome 2 1
paths to the root