Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Hypophosphatasia
Synonyms

Rathburn disease

Phosphoethanolaminuria

HPP
ID

http://www.limics.org/hrdo/rdfns#pat_id_162
ageOfDeath

Any age
ageOfOnset

Variable
altLabel

Rathburn disease

Phosphoethanolaminuria

HPP
id_MedDRA

10049933
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hypophosphatasia%22%5BMeSH+Terms%5D+OR+%28Hypophosphatasia%5BText+Word%5D+NOT+medline%5Bsb%5D%29
id_MeSH

D007014
id_MIM

146300

241500

241510
id_OMS

E83.3
id_Orpha

436
id_SNOMEDCT

190859005

360792001
id_UMLS

C0020630
inheritance

Autosomal dominant

Autosomal recessive
patType

malformation syndrome
prefixIRI

hrdo:pat_id_162
prefLabel

Hypophosphatasia
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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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://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://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