FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

pycnodysostosis
Synonyms
Definitions

An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
ID

http://purl.obolibrary.org/obo/DOID_0080038
definition

An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

pycnodysostosis
prefixIRI

DOID:0080038
prefLabel

pycnodysostosis
subClassOf

http://purl.obolibrary.org/obo/DOID_2256

http://purl.obolibrary.org/obo/DOID_0050737
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http://purl.obolibrary.org/obo/DOID_0080038 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080038 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0080038 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080038 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080038 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0080038 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009940 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131187 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C131187 BERO LOOM
http://purl.jp/bio/4/id/201106076032364463 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0027311 OMIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_571 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009940 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009940 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009940 DOVES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036734 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082973 MEDDRA LOOM
http://identifiers.org/omim/265800 REXO LOOM
http://identifiers.org/omim/265800 GEXO LOOM
http://identifiers.org/omim/265800 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058631 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.800 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D058631 MDM LOOM
http://purl.bioontology.org/ontology/OMIM/265800 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0080038 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080038 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080038 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080038 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080038 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080038 NIFSTD LOOM
http://purl.bioontology.org/ontology/MESH/D058631 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.800 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.812 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0238402 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2201023 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_265800 CCO LOOM
http://purl.bioontology.org/ontology/RCD/PG59. RCD LOOM
http://www.orpha.net/ORDO/Orphanet_763 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.779 RH-MESH LOOM