Search Ontology:
Human Disease

infantile hypophosphatasia

Term ID
DOID:0110914
Synonyms
  • Hops
  • phosphoethanolaminuria
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. https://www.ncbi.nlm.nih.gov/pubmed/1689104
References
Ontology
Human Disease   ( DOID:0110914 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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