OBO ID: DOID:0111859
Term Name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Search Ontology:
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 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 300990
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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