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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Axenfeld anomaly
Terminal osseous dysplasia - pigmentary defects

FOXC1 FLNA
PITX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FOXC1
(0.75)
FLNA



Citations in the biomedical literature:


Axenfeld anomaly
FOXC1 PITX2
Terminal osseous dysplasia - pigmentary defects
FLNA



Axenfeld anomaly
Terminal osseous dysplasia - pigmentary defects

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.