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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Gonadal Dysgenesis, 46,XY (D006061)
..Starting node ..46, XY Sex Reversal 5 (C567766)
Child Nodes:
Sister Nodes:
..46, XY female (C536769)
..46, XY Sex Reversal 5 (C567766)
..46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related (C565537)
..46,Xy Gonadal Dysgenesis, Complete, Sry-Related (C567574)
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..46,XY SEX REVERSAL 1 (OMIM:400044)
..46,XY Sex Reversal 4 (C567887)
..Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal (C566131)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia (C563920)
..Anorchia (C537770)
..Genito palato cardiac syndrome (C537683)
..Gonadal Dysgenesis, XY Type, with Associated Anomalies (C565536)
..Gonadoblastoma (D018238)
..Kennerknecht Vogel syndrome (C537019)
..Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase (C564109)
..Meacham Winn Culler syndrome (C538162)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

46, XY Sex Reversal 5

Definition:

Alternative IDs:

OMIM:613080

ParentIDs:

MESH:D006061

TreeNumbers:

C12.706.316.096.687/C567766 |C12.706.316.309.388/C567766 |C13.351.875.253.096.687/C567766 |C13.351.875.253.309.388/C567766 |C16.131.939.316.096.687/C567766 |C16.131.939.316.309.388/C567766 |C19.391.119.096.687/C567766 |C19.391.119.309.388/C567766

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C567766
MeSH: C567766
OMIM: 613080;

Genes: CBX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0008232	Elevated circulating follicle stimulating hormone level
4	HP:0012245	Sex reversal

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_005189.2(CBX2):c.293C>T (p.Pro98Leu)	84733	CBX2	Pathogenic	121908255	RCV000007228;	N	MedGen:C2751317,OMIM:613080	17	77757535	77757535	NM_005189.2:c.293C>T	NP_005180.1:p.Pro98Leu	NC_000017.10:g.77757535C>T	OMIM Allelic Variant:602770.0001,UniProtKB (variants):VAR_063751	C2751317 613080 46,XY sex reversal, type 5
NM_005189.2(CBX2):c.1328G>C (p.Arg443Pro)	84733	CBX2	Pathogenic	121908256	RCV000007229;	N	MedGen:C2751317,OMIM:613080	17	77758570	77758570	NM_005189.2:c.1328G>C	NP_005180.1:p.Arg443Pro	NC_000017.10:g.77758570G>C	OMIM Allelic Variant:602770.0002,UniProtKB (variants):VAR_063752	C2751317 613080 46,XY sex reversal, type 5