Osteomesopyknosis

General Information (adopted from Orphanet):

Synonyms, Signs: axial osteosclerosis
Number of Symptoms 12
OrphanetNr: 2777
OMIM Id: 166450
ICD-10: Q78.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Osteopetrosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000789) Infertility 74 / 7739
2
 (HPO:0003103) Abnormal cortical bone morphology Occasional [Orphanet] 38 / 7739
3
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
4
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
5
 (HPO:0003419) Low back pain 6 / 7739
6
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
7
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
8
 (HPO:0001939) Abnormality of metabolism/homeostasis Occasional [Orphanet] 328 / 7739
9
 (OMIM) Ovarian sclerosis 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Osteosclerosis of pelvis, spine, and femoral head 1 / 7739
12
 (MedDRA:10034263) Pelvic pain 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: