Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

chondrodysplasia punctata
Synonyms

CDP

chondrodysplasia calcificans congenita

chondrodysplasia punctata congenita

chondrodysplasia punctata (stippled epiphyses) Group
Definitions

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
ID

http://purl.obolibrary.org/obo/MONDO_0019701
altLabel

CDP

chondrodysplasia calcificans congenita

chondrodysplasia punctata congenita

chondrodysplasia punctata (stippled epiphyses) Group
definition

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
has_exact_synonym

CDP

chondrodysplasia calcificans congenita

chondrodysplasia punctata congenita

chondrodysplasia punctata (stippled epiphyses) Group
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948
label

chondrodysplasia punctata
prefixIRI

MONDO:0019701
prefLabel

chondrodysplasia punctata
textual definition

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0018230
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019701 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019701 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019701 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_2581 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2898 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15377 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002806 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12353 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087150 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Chondrodysplasia_Punctata CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.3 ICD10 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/278715001 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906065522493237 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D002806 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0008445 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036722 PMAPP-PMO LOOM
rgo:12498 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU050816 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_2581 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2581 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2581 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2581 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2581 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2581 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2581 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2581 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4C.00 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_2201017 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_93442 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.3 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIT_0004126 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.195 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 EFO LOOM
http://purl.obolibrary.org/obo/NCIT_C84632 BERO LOOM