ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Papilloma of choroid plexus

Connective tissue disorder due to lysyl hydroxylase-3 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	PLOD3

Citations in the biomedical literature:

Papilloma of choroid plexus		Connective tissue disorder due to lysyl hydroxylase-3 deficiency
	Synonym(s): (no synonyms)		Synonym(s): - Bone fragility-contractures-arterial rupture-deafness syndrome - Connective tissue disorder due to LH3 deficiency

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 1 OMIM reference - No MeSH references

Papilloma of choroid plexus
	Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
(no data available)