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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Gonadal Dysgenesis, 46,XY (D006061)
..Starting node ..46,Xy Gonadal Dysgenesis, Complete, Sry-Related (C567574)
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 Gonadal Dysgenesis, Complete, Sry-Related

Definition:

Alternative IDs:

ParentIDs:

MESH:D006061

TreeNumbers:

C12.706.316.096.687/C567574 |C12.706.316.309.388/C567574 |C13.351.875.253.096.687/C567574 |C13.351.875.253.309.388/C567574 |C16.131.939.316.096.687/C567574 |C16.131.939.316.309.388/C567574 |C19.391.119.096.687/C567574 |C19.391.119.309.388/C567574

Synonyms:

Gonadal Dysgenesis, Xy Female Type

Slim Mappings:

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

Reference:

MedGen: C567574
MeSH: C567574
OMIM: 400044;

Genes: SRY;

Phenotypes

1	HP:0000055	Abnormality of female external genitalia
2	HP:0008187	Absence of secondary sex characteristics
3	HP:0000133	Gonadal dysgenesis
4	HP:0000037	Male pseudohermaphroditism
5	HP:0000786	Primary amenorrhea
6	HP:0012245	Sex reversal
7	HP:0000098	Tall stature

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
NM_003140.2(SRY):c.397C>T (p.Arg133Trp)	6736	SRY	Pathogenic	104894976	RCV000010406;	N	MedGen:C2748896,OMIM:400044	Y	2655248	2655248	NM_003140.2:c.397C>T	NP_003131.1:p.Arg133Trp	NC_000024.9:g.2655248G>A	OMIM Allelic Variant:480000.0019	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.380A>T (p.Tyr127Phe)	6736	SRY	Pathogenic	104894973	RCV000010410;	N	MedGen:C2748896,OMIM:400044	Y	2655265	2655265	NM_003140.2:c.380A>T	NP_003131.1:p.Tyr127Phe	NC_000024.9:g.2655265T>A	OMIM Allelic Variant:480000.0023	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.364_367delGAGA (p.Glu122Asnfs)	6736	SRY	Pathogenic	606231178	RCV000010390;	N	MedGen:C2748896,OMIM:400044	Y	2655278	2655281	NM_003140.2:c.364_367delGAGA	NP_003131.1:p.Glu122Asnfs	NC_000024.9:g.2655278_2655281delTCTC	OMIM Allelic Variant:480000.0001	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.337G>A (p.Ala113Thr)	6736	SRY	Pathogenic	104894966	RCV000010398;	N	MedGen:C2748896,OMIM:400044	Y	2655308	2655308	NM_003140.2:c.337G>A	NP_003131.1:p.Ala113Thr	NC_000024.9:g.2655308C>T	OMIM Allelic Variant:480000.0009	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.326T>C (p.Phe109Ser)	6736	SRY	Pathogenic	104894956	RCV000010391;	N	MedGen:C2748896,OMIM:400044	Y	2655319	2655319	NM_003140.2:c.326T>C	NP_003131.1:p.Phe109Ser	NC_000024.9:g.2655319A>G	OMIM Allelic Variant:480000.0003	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.324delA (p.Phe109Serfs)	6736	SRY	Pathogenic	606231179	RCV000010397;	N	MedGen:C2748896,OMIM:400044	Y	2655321	2655321	NM_003140.2:c.324delA	NP_003131.1:p.Phe109Serfs	NC_000024.9:g.2655321delT	OMIM Allelic Variant:480000.0008	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.320G>A (p.Trp107Ter)	6736	SRY	Pathogenic	104894967	RCV000010399;	N	MedGen:C2748896,OMIM:400044	Y	2655325	2655325	NM_003140.2:c.320G>A	NP_003131.1:p.Trp107Ter	NC_000024.9:g.2655325C>T	OMIM Allelic Variant:480000.0010	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.317A>T (p.Lys106Ile)	6736	SRY	Pathogenic	104894964	RCV000010396;	N	MedGen:C2748896,OMIM:400044	Y	2655328	2655328	NM_003140.2:c.317A>T	NP_003131.1:p.Lys106Ile	NC_000024.9:g.2655328T>A	OMIM Allelic Variant:480000.0007,OMIM Allelic Variant:480000.0017	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.284G>A (p.Gly95Glu)	6736	SRY	Pathogenic	104894972	RCV000010409;	N	MedGen:C2748896,OMIM:400044	Y	2655361	2655361	NM_003140.2:c.284G>A	NP_003131.1:p.Gly95Glu	NC_000024.9:g.2655361C>T	OMIM Allelic Variant:480000.0022	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.283G>C (p.Gly95Arg)	6736	SRY	Pathogenic	104894974	RCV000010404;	N	MedGen:C2748896,OMIM:400044	Y	2655362	2655362	NM_003140.2:c.283G>C	NP_003131.1:p.Gly95Arg	NC_000024.9:g.2655362C>G	OMIM Allelic Variant:480000.0016	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.277C>T (p.Gln93Ter)	6736	SRY	Pathogenic	104894958	RCV000010393;	N	MedGen:C2748896,OMIM:400044	Y	2655368	2655368	NM_003140.2:c.277C>T	NP_003131.1:p.Gln93Ter	NC_000024.9:g.2655368G>A	OMIM Allelic Variant:480000.0005	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.274A>T (p.Lys92Ter)	6736	SRY	Pathogenic	104894970	RCV000010403;	N	MedGen:C2748896,OMIM:400044	Y	2655371	2655371	NM_003140.2:c.274A>T	NP_003131.1:p.Lys92Ter	NC_000024.9:g.2655371T>A	OMIM Allelic Variant:480000.0015	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.270C>G (p.Ile90Met)	6736	SRY	Pathogenic	104894959	RCV000010394; RCV000010395;	N	MedGen:C2748896,OMIM:400044; MedGen:C2748897	Y	2655375	2655375	NM_003140.2:c.270C>G	NP_003131.1:p.Ile90Met	NC_000024.9:g.2655375G>C	OMIM Allelic Variant:480000.0006,OMIM Allelic Variant:480000.0014	C2748896 400044 46,XY sex reversal, type 1; C2748897 46,XY true hermaphroditism, SRY-related
NM_003140.2(SRY):c.209G>A (p.Trp70Ter)	6736	SRY	Pathogenic	104894965	RCV000010402;	N	MedGen:C2748896,OMIM:400044	Y	2655436	2655436	NM_003140.2:c.209G>A	NP_003131.1:p.Trp70Ter	NC_000024.9:g.2655436C>T	OMIM Allelic Variant:480000.0013	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.203T>C (p.Ile68Thr)	6736	SRY	Pathogenic	104894968	RCV000010400;	N	MedGen:C2748896,OMIM:400044	Y	2655442	2655442	NM_003140.2:c.203T>C	NP_003131.1:p.Ile68Thr	NC_000024.9:g.2655442A>G	OMIM Allelic Variant:480000.0011	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.192G>A (p.Met64Ile)	6736	SRY	Pathogenic	104894969	RCV000010401;	N	MedGen:C2748896,OMIM:400044	Y	2655453	2655453	NM_003140.2:c.192G>A	NP_003131.1:p.Met64Ile	NC_000024.9:g.2655453C>T	OMIM Allelic Variant:480000.0012	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.178G>C (p.Val60Leu)	6736	SRY	Pathogenic	104894957	RCV000010392;	N	MedGen:C2748896,OMIM:400044	Y	2655467	2655467	NM_003140.2:c.178G>C	NP_003131.1:p.Val60Leu	NC_000024.9:g.2655467C>G	OMIM Allelic Variant:480000.0004	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.53G>A (p.Ser18Asn)	6736	SRY	Pathogenic	104894971	RCV000010408;	N	MedGen:C2748896,OMIM:400044	Y	2655592	2655592	NM_003140.2:c.53G>A	NP_003131.1:p.Ser18Asn	NC_000024.9:g.2655592C>T	OMIM Allelic Variant:480000.0021	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.12T>A (p.Tyr4Ter)	6736	SRY	Pathogenic	104894975	RCV000010405;	N	MedGen:C2748896,OMIM:400044	Y	2655633	2655633	NM_003140.2:c.12T>A	NP_003131.1:p.Tyr4Ter	NC_000024.9:g.2655633A>T	OMIM Allelic Variant:480000.0018	C2748896 400044 46,XY sex reversal, type 1
NM_003140.2(SRY):c.4C>T (p.Gln2Ter)	6736	SRY	Pathogenic	104894977	RCV000010407;	N	MedGen:C2748896,OMIM:400044	Y	2655641	2655641	NM_003140.2:c.4C>T	NP_003131.1:p.Gln2Ter	NC_000024.9:g.2655641G>A	OMIM Allelic Variant:480000.0020	C2748896 400044 46,XY sex reversal, type 1