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Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 2

Pulmonary venoocclusive disease

2 OMIM references -
2 associated genes
No signs/symptoms info

Brachydactyly type C

Pulmonary venoocclusive disease

BMPR1B	(UniProt - OMIM)		BMPR2	(UniProt - OMIM)
GDF5	(UniProt - OMIM)		EIF2AK4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDF5 BMPR1B	(0.88) (0.85)	BMPR2 BMPR2

Citations in the biomedical literature:

Brachydactyly type C		Pulmonary venoocclusive disease

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown 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 - 1 MeSH reference: C537093		External references: 2 OMIM references - 1 MeSH reference: D011668

Brachydactyly type C
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Short foot / brachydactyly of toes - Thin / hypoplastic / hyperconvex fingernails Occasional - Clinodactyly of fifth finger - Short stature / dwarfism / nanism - Symphalangy of fingers - Talipes-valgus
Pulmonary venoocclusive disease
(no data available)