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Estrogen resistance syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Anauxetic dysplasia
1 OMIM reference -
2 associated genes
No signs/symptoms info
Estrogen resistance syndrome
Anauxetic dysplasia

ESR1
(UniProt - OMIM)
 POP1
(UniProt - OMIM)
RMRP
(OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ESR1
ESR1
(0.63)
(0.63)
POP1
RMRP


Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Anauxetic dysplasia
POP1 RMRP



Estrogen resistance syndrome
Anauxetic dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, anauxetic type
Classification (Orphanet):
(no data available)
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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538256
No signs/symptoms info available.