Search Ontology:
Human Disease
syndactyly type 4
- Term ID
- DOID:0111818
- Synonyms
-
- Haas type syndactyly
- polysyndactyly, Haas type
- SDTY4
- Definition
- A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. https://www.ncbi.nlm.nih.gov/pubmed/17476456
- References
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- GARD:4434
- MESH:C566092
- MIM:186200
- ORDO:93405
- SNOMEDCT_US_2023_03_01:719158007
- UMLS_CUI:C1861355
- Ontology
- Human Disease ( DOID:0111818 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models