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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

Disease Browser
Parent Node: Gonadal Dysgenesis (D006059)
..Starting node ..Dosage-sensitive sex reversal (C535601)
Child Nodes:
Sister Nodes:
..Dosage-sensitive sex reversal (C535601)
..Gonadal Dysgenesis, 46,XX (D023961) 8
..Gonadal Dysgenesis, 46,XY (D006061) 18
..Gonadal Dysgenesis, Mixed (D006060)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Malouf syndrome (C535703)
..Ovarian Dysgenesis 2 (C564499)
..Sexual Infantilism (D050035)
..Turner Syndrome (D014424) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3445

Name:

Dosage-sensitive sex reversal

Definition:

Alternative IDs:

OMIM:300018

ParentIDs:

MESH:D006059

TreeNumbers:

C12.706.316.309/C535601 |C13.351.875.253.309/C535601 |C16.131.939.316.309/C535601 |C19.391.119.309/C535601

Synonyms:

46,XY SEX REVERSAL 2 |46,XY SEX REVERSAL, DAX1-RELATED |DOSAGE-SENSITIVE SEX REVERSAL |DSS |SRXY2

Slim Mappings:

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

Reference:

MedGen: C535601
MeSH: C535601
OMIM: 300018;

Genes: NR0B1;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0012245	Sex reversal

Disease Causing ClinVar Variants