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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Rat (1) Mouse (2) Human (58) Chinchilla (0) Bonobo (1) Dog (1) Squirrel (0) Pig (1) Green Monkey (1) Naked Mole-rat (0) All
Genes (2) Variants (48) Cell Lines (8)

46,XY sex reversal 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC108178989

SRY promoter region

IAGP

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

ClinVar

PMID:28492532

NCBI chr Y:2,787,604...2,792,604

SRY

sex determining region Y

IAGP

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

ClinVar
OMIM

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

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

Term paths to the root

Path 1
Term	Annotations
disease	147117
disease of anatomical entity	134156
Urogenital Diseases	15529
Urogenital Abnormalities	642
disorder of sexual development	301
Ovotesticular Disorders of Sex Development	2
46,XY sex reversal 1	2
Path 2
Term	Annotations
disease	147117
Developmental Disease	49460
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	42944
Congenital Abnormalities	16633
Urogenital Abnormalities	642
disorder of sexual development	301
gonadal dysgenesis	86
46,XY complete gonadal dysgenesis	35
46,XY sex reversal 1	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS