ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Acromesomelic dysplasia, Grebe type

Pulmonary venoocclusive disease

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


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

Citations in the biomedical literature:

Acromesomelic dysplasia, Grebe type		Pulmonary venoocclusive disease
	Synonym(s): - Chondrodysplasia, Grebe type		Synonym(s): (no synonyms)

	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 recessive		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: 2 OMIM references - 1 MeSH reference: D011668

Acromesomelic dysplasia, Grebe type
	Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Carpal bones fusion / synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Thumb hypoplasia / aplasia / absence - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death
Pulmonary venoocclusive disease
(no data available)