Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

nail-patella syndrome
Synonyms

NPS1

Turner-Kiser syndrome

Turner-Kieser syndrome

osteo-onychodysplasia

iliac horn syndrome

hereditary onychoostedysplasia

nail patella syndrome

Fong disease

onychoosteodysplasia

hereditary Osteo-onychodysplasia

nail-patella syndrome

NPS 1

NPS

arthro-onychodysplasia
Definitions

A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
ID

http://purl.obolibrary.org/obo/MONDO_0008061
has_exact_synonym

NPS1

Turner-Kiser syndrome

Turner-Kieser syndrome

osteo-onychodysplasia

iliac horn syndrome

hereditary onychoostedysplasia

nail patella syndrome

Fong disease

onychoosteodysplasia

hereditary Osteo-onychodysplasia

nail-patella syndrome

NPS 1
has_related_synonym

NPS

arthro-onychodysplasia
IAO_0000233

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

nail-patella syndrome
prefixIRI

MONDO:0008061
prefLabel

nail-patella syndrome
seeAlso

https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome
textual definition

A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0019712

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0005328
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http://purl.obolibrary.org/obo/MONDO_0008061 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008061 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008061 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008061 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008061 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 EFO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_392 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15144 DERMLEX LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/22199006 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0027341 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 KTAO LOOM
http://purl.obolibrary.org/obo/OMIT_0010295 OMIT LOOM
http://identifiers.org/omim/161200 REXO LOOM
http://identifiers.org/omim/161200 GEXO LOOM
http://identifiers.org/omim/161200 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0001565 DERMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063431 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.529.400 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Nail-patella_syndrome BDO LOOM
http://purl.obolibrary.org/obo/DOID_9467 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9467 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9467 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9467 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9467 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9467 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.606 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200967 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Nail_Patella_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PGy3.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/PGy3. RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75120 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037720 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/161200 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.600 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8466 OCHV LOOM
http://www.semanticweb.org/nic/ontologies/2017/0/untitled-ontology-14#Nail-Patella_syndrome CKDO LOOM
http://id.nlm.nih.gov/mesh/D009261 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009261 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_161200 CCO LOOM
http://purl.bioontology.org/ontology/MESH/D009261 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D06 SNMI LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9467 NATPRO LOOM
http://purl.jp/bio/4/id/200906030236929046 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_2200132 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_2614 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.550.629 RH-MESH LOOM
http://www.gamuts.net/entity#nail_patella_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C75120 BERO LOOM