Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). [ Orphanet:436 ]
Synonyms: Rathburn disease deficiency of alkaline phosphatase HPP phosphoethanolaminuria deficiency of alkaline phosphatase (disorder) [ambiguous]
Term information
- MEDGEN:43799 (MONDO:equivalentTo)
- NCIT:C26798 (MONDO:equivalentTo)
- DOID:14213 (MONDO:equivalentTo)
- SCTID:360792001 (MONDO:equivalentTo)
- UMLS:C0020630 (MONDO:equivalentTo)
- ICD9:277.6 (MONDO:relatedTo)
- MedDRA:10049933 (Orphanet:436/e)
- NANDO:2201012 (https://orcid.org/0000-0003-0011-764X)
- Orphanet:436 (MONDO:equivalentTo)
- ICD10CM:E83.3 (Orphanet:436/ntbt)
- MESH:D007014 (Orphanet:436/e)
- GARD:6734 (MONDO:GARD)
- NANDO:1200656 (https://orcid.org/0000-0003-0011-764X)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/360792001
http://identifiers.org/medgen/43799
http://www.orpha.net/ORDO/Orphanet_436
http://purl.obolibrary.org/obo/NCIT_C26798
http://identifiers.org/mesh/D007014
http://linkedlifedata.com/resource/umls/id/C0020630
http://purl.obolibrary.org/obo/DOID_14213