Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis - 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:	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	go back to main search page
Accession:	DOID:9000420	browse the term
Definition:	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)
Synonyms:	exact_synonym:	SSASKS
	primary_id:	OMIM:618363

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Genes (1)

Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Slc10a7

solute carrier family 10, member 7

ISO

ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

OMIM
ClinVar

PMID:25741868 PMID:29878199 PMID:30082715

NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464

Term paths to the root

Path 1
Term	Annotations
disease	18969
Pathological Conditions, Signs and Symptoms	13343
Pathologic Processes	7990
Growth Disorders	1012
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	1
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14090
Neurologic Manifestations	10053
sensory system disease	6962
mouth disease	1019
tooth disease	446
teeth hard tissue disease	119
dental enamel hypoplasia	110
amelogenesis imperfecta	58
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	1

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