46,XY sex reversal 1 - 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:	46,XY sex reversal 1	go back to main search page
Accession:	DOID:0111778	browse the term
Definition:	A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)
Synonyms:	exact_synonym:	46,XY SEX REVERSAL, SRY-RELATED; SRXY1
	narrow_synonym:	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED; SEX-REVERSING LOCUS ON X; SRVX; TDFX; X-chromosomal testis-determining factor
	primary_id:	MIM:400044
	xref:	NCI:C128188

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Genes (2)

46,XY sex reversal 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC108178990

Sry promoter region

ISO

ClinVar Annotator: match by term: 46,XY sex reversal 1

ClinVar

PMID:28492532

NCBI chr Y:2,663,658...2,667,368

Sry

sex determining region of Chr Y

ISO

ClinVar Annotator: match by term: 46,XY sex reversal 1

OMIM
ClinVar

PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More...

NCBI chr Y:2,662,471...2,663,658
Ensembl chr Y:2,662,471...2,663,658

Term paths to the root

Path 1
Term	Annotations
disease	16263
disease of anatomical entity	15856
Urogenital Diseases	5072
Urogenital Abnormalities	469
disorder of sexual development	248
Ovotesticular Disorders of Sex Development	2
46,XY sex reversal 1	2
Path 2
Term	Annotations
disease	16263
Developmental Disease	14075
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13129
Congenital Abnormalities	7929
Urogenital Abnormalities	469
disorder of sexual development	248
gonadal dysgenesis	66
46,XY complete gonadal dysgenesis	25
46,XY sex reversal 1	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS