Metadata | |
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ID | DOID:0080757 |
Name | Fanconi renotubular syndrome 1 |
Definition | A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/11090339/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a Fanconi syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |