ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
3 associated genes
6 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Brachydactyly type A2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.79)	BMP2

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Brachydactyly type A2
	Synonym(s): (no synonyms)		Synonym(s): - Brachydactyly, Mohr-Wriedt 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: C537089


COMMON SIGNS	- Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly

Spondyloperipheral dysplasia - short ulna		Brachydactyly type A2
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metaphyseal anomaly - Short stature / dwarfism / nanism Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Terminal / third phalangeal bone of fingers hypoplasia