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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Dyschromatosis symmetrica hereditaria
Prader-Willi syndrome due to translocation

ADAR SNORD116@
SNRPN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADAR
(0.63)
SNRPN



Citations in the biomedical literature:


Dyschromatosis symmetrica hereditaria
ADAR
Prader-Willi syndrome due to translocation
SNORD116@ SNRPN



Dyschromatosis symmetrica hereditaria
Prader-Willi syndrome due to translocation

Synonym(s):
- Acropigmentation of Dohi

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
1 OMIM reference -
1 MeSH reference: C535729
External references:
No OMIM references
No MeSH references

Dyschromatosis symmetrica hereditaria

Very frequent
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

Frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms



Prader-Willi syndrome due to translocation

(no data available)