ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
10 signs/symptoms

Spondylometaphyseal dysplasia, Schmidt type

Metaphyseal anadysplasia

COL2A1	(UniProt - OMIM)		MMP13	(UniProt - OMIM)
			MMP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.52)	MMP13

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Metaphyseal anadysplasia
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

	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: - 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: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537351


COMMON SIGNS	- Metaphyseal anomaly - Short stature / dwarfism / nanism

Spondylometaphyseal dysplasia, Schmidt type		Metaphyseal anadysplasia
	Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Myopia - Scoliosis - Short limbs / micromelia / brachymelia Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality		Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Lower limb segmental anomalies - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - X-linked recessive inheritance