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General Information
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| Term |
infantile hypophosphatasia |
ID (Ontology) |
DOID:0110914 (Human Disease) |
| Definition |
A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. |
| Also Known As |
"HOPS" ; "HPPI" ; "phosphoethanolaminuria" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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infantile hypophosphatasia | 7 | for disease ribbon | infantile hypophosphatasia | 7 | model of | infantile hypophosphatasia | 7 |
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Relationships