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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Brachydactyly type B
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

ROR2 IKBKG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ROR2
(0.56)
IKBKG



Citations in the biomedical literature:


Brachydactyly type B
ROR2
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG



Brachydactyly type B
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

Synonym(s):
(no synonyms)

Synonym(s):
- OL-EDA-ID

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

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

Brachydactyly type B

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)