Terminology Service for NFDI4Health
JSON

hypophosphatasia

Go to external page http://purl.obolibrary.org/obo/DOID_14213

A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

hypophosphatasia

Synonyms
  • childhood hypophosphatasia
  • deficiency of alkaline phosphatase
  • hypophospatasia, childhood
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:14763

has obo namespace

disease_ontology

id

DOID:14213