ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

3 OMIM references -
3 associated genes
12 signs/symptoms

Pseudoachondroplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COMP	(0.52)	COL9A1

Citations in the biomedical literature:

Pseudoachondroplasia		Multiple epiphyseal dysplasia due to collagen 9 anomaly
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535819		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Abnormal gait - Articular / joint pain / arthralgia - Autosomal dominant inheritance - Epiphyseal anomaly - Genu valgum - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Pseudoachondroplasia		Multiple epiphyseal dysplasia due to collagen 9 anomaly
	Very frequent - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - Wrist / carpal anomalies Frequent - Hyperextensible joints / articular hyperlaxity - Lordosis - Platyspondyly - Scoliosis - Short foot / brachydactyly of toes Occasional - Kyphosis - Odontoid hypoplasia		Frequent - Joint / articular deformation