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Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
1 OMIM reference -
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Fibrochondrogenesis
Otospondylomegaepiphyseal dysplasia
Stickler syndrome type 3
Weissenbacher- Zweymuller syndrome
Acrogeria
Caffey disease
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial abdominal aortic aneurysm
Familial cerebral saccular aneurysm
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DDR2 Q16832191311
No signs/symptoms info available.