orofaciodigital syndrome IX - Ontology Report

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:	orofaciodigital syndrome IX	go back to main search page
Accession:	DOID:0060382	browse the term
Definition:	An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:	exact_synonym:	OFD9; OFDS IX; oral facial digital syndrome, type IX; oral-facial-digital syndrome 9; oral-facial-digital syndrome with retinal abnormalities; orofaciodigital syndrome 9; orofaciodigital syndrome with retinal abnormalities; orofaciodigital syndrome, type 9
	primary_id:	MESH:C557818
	alt_id:	OMIM:258865
	xref:	GARD:10520; ORDO:141007

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Genes (2)

orofaciodigital syndrome IX

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sclt1

sodium channel and clathrin linker 1

ISO

ClinVar Annotator: match by term: Orofaciodigital syndrome IX

ClinVar

NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065

Tbc1d32

TBC1 domain family, member 32

ISO

ClinVar Annotator: match by term: Orofaciodigital syndrome IX

ClinVar

PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025

NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415

Term paths to the root

Path 1
Term	Annotations
disease	18969
syndrome	10889
orofaciodigital syndrome	31
orofaciodigital syndrome IX	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
Skin and Connective Tissue Diseases	7461
connective tissue disease	5787
bone disease	4302
bone development disease	2307
dysostosis	578
orofaciodigital syndrome	31
orofaciodigital syndrome IX	2

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS