RIBBING DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: DIAPHYSEAL SCLEROSIS, MULTIPLE
Number of Symptoms 6
OrphanetNr:
OMIM Id: 601477
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:0003034) Diaphyseal sclerosis 10 / 7739
2
(OMIM) Pain and swelling of lesions 1 / 7739
3
(OMIM) Progressive obstruction of haversian systems 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Diaphyseal sclerosis of tibia, femur, fibula and radius 1 / 7739
6
(OMIM) Osteoblastic activity alone 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ribbing (1949) described a family with a disorder he designated hereditary multiple diaphyseal sclerosis. According to Seeger et al. (1996), only 13 cases of Ribbing disease had been previously described in the English literature; these were reported by ...