ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
No signs/symptoms info

Spondyloperipheral dysplasia - short ulna

Autosomal dominant macrothrombocytopenia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.85)	ITGA2B

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Autosomal dominant macrothrombocytopenia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535799		External references: 3 OMIM references - No MeSH references

Spondyloperipheral dysplasia - short ulna
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - 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
Autosomal dominant macrothrombocytopenia
(no data available)