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Preferred Name

hypophosphatasia
Synonyms
Definitions

genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
ID

http://purl.bioontology.org/ontology/CSP/1849-5251
cui

C0020630
definition

genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
DID

1849-5251
Inverse of RB

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/0531-8952
Inverse of RO

http://purl.bioontology.org/ontology/CSP/2294-6123
notation

1849-5251
prefLabel

hypophosphatasia
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/0531-8952
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http://purl.bioontology.org/ontology/RCD/C3530 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001643 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/190859005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D007014 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10049933 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-95200 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D007014 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190859005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10049933 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/E83.39 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10049933 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/360792001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/360792001 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_14213 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14213 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14213 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14213 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14213 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14213 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14213 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/C3530 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.618.482 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018570 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018570 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018570 DOVES LOOM
rgo:08689 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007014 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26798 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049933 MEDDRA LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hypophosphatasia PEDTERM LOOM
http://www.orpha.net/ORDO/Orphanet_436 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.618.482 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020630 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D007014 MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18210 DERMLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/C353000 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190859005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0008147 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_146300 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C26798 BERO LOOM
http://identifiers.org/omim/146300 REXO LOOM
http://identifiers.org/omim/146300 GEXO LOOM
http://identifiers.org/omim/146300 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6485 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hypophosphatasia CSEO LOOM
http://purl.jp/bio/4/id/200906053371885555 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036698 PMAPP-PMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_162 HRDO LOOM
http://id.nlm.nih.gov/mesh/D007014 MDM LOOM
http://nanbyodata.jp/ontology/NANDO_2201012 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200656 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14213 NATPRO LOOM