[NTR/gene] ALPL-related hypophosphatasia

[RyanFWebb]

Preferred gene-related syndrome label
ALPL-related hypophosphatasia

Synonyms

Parent term (use OLS, or your favorite ontology browser)
Skeletal dysplasia

Definition
Any skeletal disorder in which the cause of the disease is a variant in the ALPL gene. This includes mild, moderate, severe, and perinatal lethal hypophosphatasia.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
mild hypophosphatasia (MONDO:0600011)
moderate hypophosphatasia (MONDO:0600010)
severe hypophosphatasia (MONDO:0600009)
perinatal lethal hypophosphatasia (MONDO:0016605)

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel