ODCs

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3 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
24 signs/symptoms

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Platyspondylic dysplasia, Torrance type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL9A1 COL9A3 COL9A2	(0.75) (0.62) (0.52)	COL2A1 COL2A1 COL2A1

Citations in the biomedical literature:

Multiple epiphyseal dysplasia due to collagen 9 anomaly		Platyspondylic dysplasia, Torrance type
	Synonym(s): (no synonyms)		Synonym(s): - PLSD-T - Platyspondylic dysplasia, Torrance-Luton type - Platyspondylic lethal skeletal dysplasia, Torrance type

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Epiphyseal anomaly - Genu varum - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Multiple epiphyseal dysplasia due to collagen 9 anomaly		Platyspondylic dysplasia, Torrance type
	Very frequent - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis Occasional - Genu valgum		Very frequent - Bowed diaphysis / diaphyses / long bones - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short rib cage / thorax - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Depressed nasal bridge - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Polyhydramnios - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Stillbirth / neonatal death Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula