Search Ontology:
Human Disease
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- Term ID
- DOID:0111859
- Synonyms
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- MFHIEN
- Definition
- A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. https://pubmed.ncbi.nlm.nih.gov/27811305/
- References
- Ontology
- Human Disease ( DOID:0111859 )
- is a type of
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Genes Involved
Zebrafish Models