46xy Sex Reversal 2, Dosage-Sensitive malady
Categories: Genetic diseases, Rare diseases
Aliases & Descriptions for 46xy Sex Reversal 2, Dosage-Sensitive:
46xy sex reversal 2, dosage-sensitive:
Inheritance: x-linked inheritance
Global: Genetic diseases, Rare diseases
UniProtKB/Swiss-Prot:67 46,XY sex reversal 2: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
MalaCards based summary: 46xy Sex Reversal 2, Dosage-Sensitive, also known as dosage-sensitive sex reversal, is related to nr0b1-related 46,xy dsd and 46,xy cgd and neuropathy, congenital hypomyelinating, and has symptoms including sex reversal An important gene associated with 46xy Sex Reversal 2, Dosage-Sensitive is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1).
Description from OMIM:49 300018
Search GEO for disease gene expression data for 46xy Sex Reversal 2, Dosage-Sensitive.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet