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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
FGFR2-related bent bone dysplasia
Hypercalcemic tumoral calcinosis

FGFR2 FGF23
GALNT3
KL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR2
(0.52)
FGF23



Citations in the biomedical literature:


FGFR2-related bent bone dysplasia
FGFR2
Hypercalcemic tumoral calcinosis
FGF23 GALNT3 KL



FGFR2-related bent bone dysplasia
Hypercalcemic tumoral calcinosis

Synonym(s):
- Perinatal lethal bent bone dysplasia

Synonym(s):
- GALNT3-CDG

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.