ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Fibular aplasia - complex brachydactyly

Juvenile polyposis of infancy

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


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

Citations in the biomedical literature:

Fibular aplasia - complex brachydactyly		Juvenile polyposis of infancy
	Synonym(s): - Du Pan syndrome		Synonym(s): - Infantile juvenile polyposis syndrome

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

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		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

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

Fibular aplasia - complex brachydactyly
	Very frequent - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
Juvenile polyposis of infancy
(no data available)