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Brachydactyly-syndactyly, Zhao type
1 OMIM reference -
1 associated gene
7 connected diseases
7 signs/symptoms
Disease Type of connection
Brachydactyly type E
Syndactyly type 5
Synpolydactyly type 1
VACTERL / VATER association
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HOXD13 P35453142989
Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of toes

Frequent
- Hallux valgus
- Symphalangy of fingers