Search Ontology:
Human Disease

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Term ID
DOID:0111859
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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