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Gnathodiaphyseal dysplasia
1 OMIM reference -
1 associated gene
4 connected diseases
10 signs/symptoms
Disease Type of connection
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi myopathy
Giant cell glioblastoma
Gliosarcoma
Synonym(s):
- GDD
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ANO5 Q75V66608662
Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Enlargment of jaw / large jaw

Frequent
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Premature eruption of teeth / natal teeth

Occasional
- Bone tumefaction / swelling
- Mutiple fractures / bone fragility
- Scoliosis