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Human Disease

acrofacial dysostosis, Patagonia type

Term ID
DOID:0060385
Synonyms
Definition
An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. https://pubmed.ncbi.nlm.nih.gov/9098488/
References
Ontology
Human Disease   ( DOID:0060385 )
Relationships
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Genes Involved
Zebrafish Models