Search Ontology:
Human Disease

split hand-foot malformation 3

Term ID
DOID:0090025
Synonyms
  • chromosome 10q24 duplication syndrome
  • distal limb deficiencies with micrognathia
  • SHFM3
Definition
A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/14699611
References
  • MESH:C574275
  • MIM:246560
  • NCI:C75000
  • ORDO:2440
  • SNOMEDCT_US_2023_03_01:81208006
  • UMLS_CUI:C0265554
Ontology
Human Disease   ( DOID:0090025 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations