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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:Martsolf syndrome
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Accession:DOID:0111586 term browser browse the term
Definition:A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)
Synonyms:exact_synonym: cataract-intellectual disability-hypogonadism syndrome;   cataract-mental retardation-hypogonadism
 primary_id: MESH:C536028
 alt_id: OMIM:212720
 xref: GARD:3406;   ORDO:1387
For additional species annotation, visit the Alliance of Genome Resources.

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Martsolf syndrome 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 ClinVar PMID:23420520 PMID:29300443 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by OMIM:212720
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar Annotator: match by term: Cataract-intellectual disability-hypogonadism syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Martsolf syndrome 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    Martsolf syndrome 2
paths to the root