ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Spondyloepimetaphyseal dysplasia, Missouri type

Hereditary angioedema type 3


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MMP13	(0.52)	F12

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Hereditary angioedema type 3
	Synonym(s): - SEMD type 2 - SEMD, Missouri type - Spondyloepimetaphyseal dysplasia type 2		Synonym(s): - HAE 3 - HAE-III - Hereditary angioneurotic edema type 3 - Inherited estrogen-associated angioedema - Inherited estrogen-associated angioneurotic edema - Inherited estrogen-dependent angioedema - Inherited estrogen-dependent angioneurotic edema

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare allergic disease - Rare genetic disease - Rare systemic or rheumatologic 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: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056828

Spondyloepimetaphyseal dysplasia, Missouri type
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Metaphyseal anomaly Frequent - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Osteoarthritis - Rhizomelic micromelia - Short stature / dwarfism / nanism Occasional - Restricted joint mobility / joint stiffness / ankylosis
Hereditary angioedema type 3
(no data available)