ODCs

Click node...

1 OMIM reference -
3 associated genes
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

3 OMIM references -
2 associated genes
13 signs/symptoms

Brachydactyly type A2

Brachydactyly type A1


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

Citations in the biomedical literature:

Brachydactyly type A2		Brachydactyly type A1
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - Brachydactyly, Farabee 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 dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537089		External references: 3 OMIM references - 1 MeSH reference: C537088


COMMON SIGNS	- Autosomal dominant inheritance - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly

Brachydactyly type A2		Brachydactyly type A1
	Occasional - Terminal / third phalangeal bone of fingers hypoplasia		Very frequent - Short big toe - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray