HYMEN, IMPERFORATE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 237100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000148) Vaginal atresia 16 / 7739
2
 (HPO:0000142) Abnormality of the vagina 24 / 7739
3
 (HPO:0000141) Amenorrhea 16 / 7739
4
 (OMIM) Hematocolpos 1 / 7739
5
 (OMIM) Normal external and internal genitalia 1 / 7739
6
 (HPO:0030011) Imperforate hymen 2 / 7739
7
 (OMIM) Hudrometrocolpos 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: