infantile hypophosphatasia

Summary
Synonym
  • 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.
Super Class
hypophosphatasia
External Links
Disease Ontology
DOID:0110914
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
249 ALPL alkaline phosphatase, biomineralization associated
250 ALPP alkaline phosphatase, placental
26033 ATRNL1 attractin like 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000121 Nephrocalcinosis
HP:0000164 Abnormality of the dentition
HP:0000592 Blue sclerae
HP:0000737 Irritability
HP:0000773 Short ribs
HP:0000897 Rachitic rosary
HP:0000926 Platyspondyly
HP:0001024 Skin dimple over apex of long bone angulation
HP:0001250 Seizure
Displaying 1 entry
Gene ID Gene Symbol Description
249 ALPL alkaline phosphatase, biomineralization associated

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024