RETINOSCHISIS, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 180270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000480) Retinal coloboma 16 / 7739
2
 (HPO:0007808) Bilateral retinal coloboma 4 / 7739
3
 (HPO:0000611) Choroid coloboma 12 / 7739
4
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
5
 (HPO:0008002) Abnormality of macular pigmentation 20 / 7739
6
 (HPO:0007769) Peripheral retinal degeneration 2 / 7739
7
 (OMIM) Maculoschisis 1 / 7739
8
 (HPO:0030502) Retinoschisis 3 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: