BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

nail-patella syndrome

Synonyms

Fong disease

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3.

ID

http://purl.obolibrary.org/obo/DOID_9467

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:22199006

UMLS_CUI:C0027341

ICD10CM:Q87.2

OMIM:161200

MEDDRA:10063431

MESH:D009261

GARD:7160

NCI:C75120

ORDO:2614

has exact synonym

Fong disease

iliac horn syndrome

Turner-Kiser syndrome

hereditary onychoostedysplasia

nail patella syndrome

has_obo_namespace

disease_ontology

id

DOID:9467

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

nail-patella syndrome

notation

DOID:9467

prefLabel

nail-patella syndrome

textual definition

A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9467 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9467 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_9467 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9467 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9467 FNS-H 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 DOVES 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 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

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