Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0009427> ?p ?o ?g. }
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- MONDO_0009427 IAO_0000115 "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." @default.
- MONDO_0009427 IAO_0000231 OMO_0001000 @default.
- MONDO_0009427 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/2906" @default.
- MONDO_0009427 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4948" @default.
- MONDO_0009427 normalizedInformationContent "100" @default.
- MONDO_0009427 referenceCount "1" @default.
- MONDO_0009427 consider "MONDO:0600009" @default.
- MONDO_0009427 consider "MONDO:0600010" @default.
- MONDO_0009427 consider "MONDO:0600011" @default.
- MONDO_0009427 hasDbXref "DOID:0110914" @default.
- MONDO_0009427 hasDbXref "GARD:17192" @default.
- MONDO_0009427 hasDbXref "ICD10CM:E83.3" @default.
- MONDO_0009427 hasDbXref "OMIM:241500" @default.
- MONDO_0009427 hasDbXref "Orphanet:247651" @default.
- MONDO_0009427 hasDbXref "SCTID:55236002" @default.
- MONDO_0009427 hasDbXref "UMLS:C0268412" @default.
- MONDO_0009427 hasExactSynonym "HOPS" @default.
- MONDO_0009427 hasExactSynonym "infantile Rathburn disease" @default.
- MONDO_0009427 hasExactSynonym "infantile phosphoethanolaminuria" @default.
- MONDO_0009427 hasExactSynonym "obsolete infantile hypophosphatasia" @default.
- MONDO_0009427 hasRelatedSynonym "hypophosphatasia, infantile" @default.
- MONDO_0009427 hasRelatedSynonym "hypophosphatasia, perinatal lethal" @default.
- MONDO_0009427 id "MONDO:0009427" @default.
- MONDO_0009427 inSubset gard_rare @default.
- MONDO_0009427 inSubset nord_rare @default.
- MONDO_0009427 inSubset ordo_clinical_subtype @default.
- MONDO_0009427 inSubset rare @default.
- MONDO_0009427 type Class @default.
- MONDO_0009427 isDefinedBy mondo.owl @default.
- MONDO_0009427 label "obsolete infantile hypophosphatasia" @default.
- MONDO_0009427 subClassOf MONDO_0009427 @default.
- MONDO_0009427 subClassOf Thing @default.
- MONDO_0009427 deprecated "true" @default.
- MONDO_0009427 exactMatch 55236002 @default.
- MONDO_0009427 exactMatch C0268412 @default.
- MONDO_0009427 exactMatch DOID_0110914 @default.
- MONDO_0009427 exactMatch Orphanet_247651 @default.
- MONDO_0009427 exactMatch 241500 @default.