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Anaplastic ependymoma

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Spondylometaphyseal dysplasia, Schmidt type

1 OMIM reference -
1 associated gene
11 signs/symptoms

Anaplastic ependymoma

Spondylometaphyseal dysplasia, Schmidt type

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


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

Citations in the biomedical literature:

Anaplastic ependymoma		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): - High-grade ependymoma		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
Anaplastic ependymoma
(no data available)