ODCs

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1 OMIM reference -
3 associated genes
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
18 signs/symptoms

Brachydactyly type A2

Acromesomelic dysplasia, Grebe type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.9)	GDF5

Citations in the biomedical literature:

Brachydactyly type A2		Acromesomelic dysplasia, Grebe type
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - Chondrodysplasia, Grebe type

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537089		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly

Brachydactyly type A2		Acromesomelic dysplasia, Grebe type
	Very frequent - Autosomal dominant inheritance Frequent - Clinodactyly of fifth finger Occasional - Terminal / third phalangeal bone of fingers hypoplasia		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 - Restricted joint mobility / joint stiffness / ankylosis - 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