GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Aromatase Deficiency(Pseudohermaphroditism, female, due to placental aromatase deficiency)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Endocrine disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 CYP19A1/1588 cytochrome P450 family 19 subfamily A member 1 15q21.2 Chr15, NC_000015.10
(51208057..51338596, complement)
130540 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development