hypophosphatasia
http://purl.obolibrary.org/obo/MONDO_0018570
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 ]
Term info
- UMLS:C0020630 (Orphanet:436/e)
- MedDRA:10049933 (Orphanet:436/e)
- SCTID:360792001 (MONDO:equivalentTo)
- ICD10CM:E83.3 (Orphanet:436/ntbt)
- DOID:14213 (MONDO:equivalentTo)
- MESH:D007014 (Orphanet:436/e)
- NCIT:C26798 (MONDO:equivalentTo)
- Orphanet:436 (MONDO:equivalentTo)
- GARD:0006734 (MONDO:equivalentTo)
- ICD9:277.6 (MONDO:relatedTo)
ordo_disease
http://identifiers.org/meddra/10049933
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).
http://purl.obolibrary.org/obo/Orphanet_436, http://identifiers.org/snomedct/360792001, 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
http://purl.obolibrary.org/obo/MONDO_0019705
Rathburn disease, deficiency of alkaline phosphatase, HPP, phosphoethanolaminuria, deficiency of alkaline phosphatase (disorder) [ambiguous]
childhood hypophosphatasia, hypophosphatasia mild, hypophospatasia, childhood
phosphoethanol-aminuria
MONDO:0018570