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Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Anaplastic ependymoma

2 associated genes
No signs/symptoms info

Achondrogenesis type 2

Anaplastic ependymoma

COL2A1	(UniProt - OMIM)		C11ORF95	(UniProt - OMIM)
			RELA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.63)	RELA

Citations in the biomedical literature:

Achondrogenesis type 2		Anaplastic ependymoma
	Synonym(s): - Achondrogenesis, Langer-Saldino type		Synonym(s): - High-grade ependymoma

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536017		External references: No OMIM references No MeSH references

Achondrogenesis type 2
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Autosomal dominant inheritance - 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 limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism - 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)
Anaplastic ependymoma
(no data available)