Martsolf syndrome 1 - Ontology Report - Rat Genome Database

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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 1	go back to main search page
Accession:	DOID:0111586	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
	primary_id:	MIM:212720

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Genes (8)

Martsolf syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anosmin 1

ClinVar Annotator: match by term: Martsolf syndrome 1

PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868

NCBI chr X:5,163,638...5,363,835
NCBI chr Y:3,807,032...4,014,112

G

Rho GTPase activating protein 35

ClinVar Annotator: match by term: Martsolf syndrome 1

NCBI chr 6:52,711,463...52,841,295
Ensembl chr 6:52,711,901...52,841,288

G

Rho GTPase activating protein 5

ClinVar Annotator: match by term: Martsolf syndrome 1

NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Martsolf syndrome 1

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

immunoglobulin superfamily member 10

ClinVar Annotator: match by term: Martsolf syndrome 1

NCBI chr13:91,625,421...91,679,494
Ensembl chr13:91,625,431...91,679,079

G

klotho beta

ClinVar Annotator: match by term: Martsolf syndrome 1

NCBI chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Martsolf syndrome 1

PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 More...

NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525

G

semaphorin 3A

ClinVar Annotator: match by term: Martsolf syndrome 1

PMID:22927827 PMID:25741868

NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950

Term paths to the root

Path 1
Term	Annotations
disease	15426
syndrome	10414
Martsolf Syndrome	20
Martsolf syndrome 1	8
Path 2
Term	Annotations
disease	15426
disease of anatomical entity	15095
nervous system disease	13247
central nervous system disease	11836
brain disease	11107
disease of mental health	8017
developmental disorder of mental health	5452
specific developmental disorder	4466
intellectual disability	4266
syndromic intellectual disability	757
Martsolf Syndrome	20
Martsolf syndrome 1	8

paths to the root