Search Ontology:
Human Disease
acromesomelic dysplasia, Hunter-Thompson type
- Term ID
- DOID:0080051
- Synonyms
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- acromesomelic dwarfism
- acromesomelic dysplasia-2C
- Definition
- An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (2)
- References
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- GARD:506
- MIM:201250
- ORDO:968
- Ontology
- Human Disease ( DOID:0080051 )
- is a type of
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Genes Involved
Zebrafish Models