OBO ID: DOID:0110914
Term Name: infantile hypophosphatasia Search Ontology:
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 infantile hypophosphatasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALPL Hypophosphatasia, infantile 241500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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