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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
11 signs/symptoms
Estrogen resistance syndrome
Brachydactyly type C

ESR1 BMPR1B
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ESR1
(0.63)
GDF5



Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Brachydactyly type C
BMPR1B GDF5



Estrogen resistance syndrome
Brachydactyly type C

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537093

Brachydactyly type C

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Clinodactyly of fifth finger
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus


Estrogen resistance syndrome

(no data available)