ODCs

Click node...

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

Achondrogenesis type 2

Multiple epiphyseal dysplasia type 1


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

Citations in the biomedical literature:

Achondrogenesis type 2		Multiple epiphyseal dysplasia type 1
	Synonym(s): - Achondrogenesis, Langer-Saldino type		Synonym(s): - EDM1 - MED1 - Polyepiphyseal dysplasia type 1

	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: unknown Average age onset: neonatal/infancy Average age of death: - 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: C536017		External references: 1 OMIM reference - 1 MeSH reference: C535501


COMMON SIGNS	- Autosomal dominant inheritance - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Achondrogenesis type 2		Multiple epiphyseal dysplasia type 1
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short neck - Short rib cage / thorax - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)		Very frequent - Epiphyseal anomaly - 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 - Short hand / brachydactyly Occasional - Genu valgum - Genu varum