ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
6 signs/symptoms

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Dermatofibrosarcoma protuberans

COL2A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.68)	PDGFB

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia congenita, Strudwick type		Dermatofibrosarcoma protuberans
	Synonym(s): (no synonyms)		Synonym(s): - DFSP

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: 1-5 / 10 000 Average age onset: variable Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538219

Spondyloepimetaphyseal dysplasia congenita, Strudwick type		Dermatofibrosarcoma protuberans
	Very frequent - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Lordosis - Metaphyseal anomaly - Platyspondyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Abnormal gait - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Genu valgum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Kyphosis - Myopia - Osteoarthritis - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus		Very frequent - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling - Thick skin / pachydermia / orange skin Frequent - Chronic skin infection / ulcerations / ulcers / cancrum