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
Accession: DOID:0111586
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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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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
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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
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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
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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
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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
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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
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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
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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 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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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
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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
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