ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Multiple epiphyseal dysplasia, Beighton type

Hyaluronidase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.63)	HYAL1

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Beighton type		Hyaluronidase deficiency
	Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness		Synonym(s): - Mucopolysaccharidosis type 9

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

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

Multiple epiphyseal dysplasia, Beighton type		Hyaluronidase deficiency
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Conductive deafness / hearing loss - Epiphyseal anomaly - Flat face - Microstomia / little mouth - Myopia - Round face - Short hand / brachydactyly Frequent - Cataract / lens opacification		Very frequent - Autosomal recessive inheritance - Short stature / dwarfism / nanism - Subcutaneous nodules / lipomas / tumefaction / swelling