Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Hypophosphatasia
Synonyms

Hypophosphatasias
Definitions

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical 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. (From Dorland, 27th ed)
ID

http://purl.bioontology.org/ontology/MESH/D007014
altLabel

Hypophosphatasias
AN

defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0020630
DC

1
definition

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical 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. (From Dorland, 27th ed)
DX

19720101
HN

72(66)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D000469
Machine permutation

72
Mapped from

http://purl.bioontology.org/ontology/MESH/C564146

http://purl.bioontology.org/ontology/MESH/C562646

http://purl.bioontology.org/ontology/MESH/C562647

http://purl.bioontology.org/ontology/MESH/C562440

http://purl.bioontology.org/ontology/MESH/C567107
MDA

19990101
MMR

20130708
MN

C18.452.648.618.482

C16.320.565.618.482
notation

D007014
prefLabel

Hypophosphatasia
TERMUI

T021020
TH

NLM (1966)

GHR (2014)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D008664
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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/CSP/1849-5251 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D6-95200 SNMI 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://purl.bioontology.org/ontology/CSP/1849-5251 CRISP 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://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