syndactyly-telecanthus-anogenital and renal malformations syndrome - Ontology Report

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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:	syndactyly-telecanthus-anogenital and renal malformations syndrome	go back to main search page
Accession:	DOID:0111931	browse the term
Definition:	A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)
Synonyms:	exact_synonym:	STAR; STAR Syndrome; Syndactyly with Renal and Anogenital Malformations; toe syndactyly, telecanthus, and anogenital and renal malformations
	primary_id:	MESH:C567475
	alt_id:	MIM:300707
	xref:	GARD:10295; ORDO:140952

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Genes (2)

syndactyly-telecanthus-anogenital and renal malformations syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ccnq

cyclin Q

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome

OMIM
CTD
ClinVar

PMID:8818947 PMID:18297069 PMID:25741868 PMID:36474027

NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961

Star

steroidogenic acute regulatory protein

ISO

ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome

ClinVar

PMID:8948562 PMID:16968793 PMID:18729825 PMID:21647419 PMID:23920000 More...

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

Term paths to the root

Path 1
Term	Annotations
disease	19099
syndrome	11271
syndactyly-telecanthus-anogenital and renal malformations syndrome	2
Path 2
Term	Annotations
disease	19099
disease of anatomical entity	18440
Skin and Connective Tissue Diseases	7809
connective tissue disease	5960
bone disease	4413
bone development disease	2373
dysostosis	632
synostosis	397
syndactyly	151
syndactyly-telecanthus-anogenital and renal malformations syndrome	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS