ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Juvenile polyposis of infancy

Angel-shaped phalango-epiphyseal dysplasia

BMPR1A	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
PTEN	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1A	(0.89)	GDF5

Citations in the biomedical literature:

Juvenile polyposis of infancy		Angel-shaped phalango-epiphyseal dysplasia
	Synonym(s): - Infantile juvenile polyposis syndrome		Synonym(s): - ASPED

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

Angel-shaped phalango-epiphyseal dysplasia
	Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly Frequent - Anomalies of teeth and dentition - Arthritis / synovitis / synovial proliferation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short stature / dwarfism / nanism Occasional - Delayed bone age - Hyperextensible joints / articular hyperlaxity
Juvenile polyposis of infancy
(no data available)