adult hypophosphatasia

Summary
Synonym
  • mild hypophosphatasia
Definition
A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
Super Class
hypophosphatasia
External Links
Disease Ontology
DOID:0110913
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 14 in total
HPO ID HPO Term
HP:0002749 Osteomalacia
HP:0000934 Chondrocalcinosis
HP:0003282 Low alkaline phosphatase
HP:0000007 Autosomal recessive inheritance
HP:0002757 Recurrent fractures
HP:0006357 Premature loss of permanent teeth
HP:0002659 Increased susceptibility to fractures
HP:0000006 Autosomal dominant inheritance
HP:0002748 Rickets
HP:0003040 Arthropathy
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