ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

2 OMIM references -
2 associated genes
30 signs/symptoms

Spondylometaphyseal dysplasia, Schmidt type

Fibrochondrogenesis

COL2A1	(UniProt - OMIM)		COL11A1	(UniProt - OMIM)
			COL11A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1	(0.52) (0.52)	COL11A1 COL11A2

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Fibrochondrogenesis
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): (no synonyms)

	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: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Abnormal vertebral size / shape - Metaphyseal anomaly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondylometaphyseal dysplasia, Schmidt type		Fibrochondrogenesis
	Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Myopia - Scoliosis Frequent - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality		Very frequent - Anomalies of the ribs - Autosomal recessive inheritance - Diaphyseal anomaly - Flared chest / bell-shaped thorax / shield chest - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Proptosis / exophthalmos - Round face - Short hand / brachydactyly - Short neck - Stillbirth / neonatal death Frequent - Absent / small fingernails / anonychia of hands - Anomalies of ear and hearing - Anteverted nares / nostrils - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Hypertelorism - Mesomelic micromelia - Omphalocele / exomphalos - Plagiocephaly