ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

Brachydactyly type B


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

Citations in the biomedical literature:

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema		Brachydactyly type B
	Synonym(s): - OL-EDA-ID		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 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 - 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)