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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
8 signs/symptoms
Extraskeletal myxoid chondrosarcoma
Epidermolysis bullosa simplex, Ogna type

EWSR1 PLEC
NR4A3
TAF15
TCF12
TFG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EWSR1
TAF15
(0.56)
(0.56)
PLEC
PLEC



Citations in the biomedical literature:


Extraskeletal myxoid chondrosarcoma
EWSR1 NR4A3 TAF15 TCF12 TFG
Epidermolysis bullosa simplex, Ogna type
PLEC



Extraskeletal myxoid chondrosarcoma
Epidermolysis bullosa simplex, Ogna type

Synonym(s):
(no synonyms)

Synonym(s):
- EBS-O

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535962

Epidermolysis bullosa simplex, Ogna type

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Extraskeletal myxoid chondrosarcoma

(no data available)