CHOROIDAL OSTEOMA, BILATERAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 118865
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000610) Abnormality of the choroid 11 / 7739
2
(HPO:0100246) Osteoma 5 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(OMIM) Peripapillary benign choroidal osteoma 1 / 7739
5
(OMIM) Benign tumefaction of a chorista (embryonic tissue rest) 1 / 7739
6
(OMIM) Histopathology shows bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation (osteoblasts, osteocytes, and osteoclasts) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Choroidal osteoma is a benign tumor found in the peripapillary region, most characteristically in one eye of otherwise healthy, young females. Histopathologic changes include bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation, i.e., ...