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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: MARTS1;   Martsolf syndrome 1;   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 Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
G Arhgap35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Martsolf syndrome | ClinVar Annotator: match by term: Martsolf syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:22927827 PMID:25741868 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Martsolf syndrome 10
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    Martsolf syndrome 10
paths to the root