Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

NAIL-PATELLA SYNDROME
Synonyms

FONG DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/161200
altLabel

FONG DISEASE

ONYCHOOSTEODYSPLASIA

NPS

TURNER-KIESER SYNDROME

NPS1
cui

C0027341
Gene Locus

9q34.1
Gene Symbol

FSGS10

NPS1

LMX1B
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041371

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU015762

http://purl.bioontology.org/ontology/OMIM/MTHU016843

http://purl.bioontology.org/ontology/OMIM/MTHU004360

http://purl.bioontology.org/ontology/OMIM/MTHU041375

http://purl.bioontology.org/ontology/OMIM/MTHU041369

http://purl.bioontology.org/ontology/OMIM/MTHU067297

http://purl.bioontology.org/ontology/OMIM/MTHU036986

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU041376

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU016837

http://purl.bioontology.org/ontology/OMIM/MTHU036987

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU067296

http://purl.bioontology.org/ontology/OMIM/MTHU016833

http://purl.bioontology.org/ontology/OMIM/MTHU008928

http://purl.bioontology.org/ontology/OMIM/MTHU041374

http://purl.bioontology.org/ontology/OMIM/MTHU007928

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU041370

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU041373

http://purl.bioontology.org/ontology/OMIM/MTHU016840

http://purl.bioontology.org/ontology/OMIM/MTHU016839

http://purl.bioontology.org/ontology/OMIM/MTHU036764

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU016835

http://purl.bioontology.org/ontology/OMIM/MTHU036916

http://purl.bioontology.org/ontology/OMIM/MTHU041372

http://purl.bioontology.org/ontology/OMIM/MTHU036426

http://purl.bioontology.org/ontology/OMIM/MTHU016834

http://purl.bioontology.org/ontology/OMIM/MTHU007784

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU016836
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

161200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NAIL-PATELLA SYNDROME
Scope Statement

Caused by mutations in the LIM homeobox transcription factor 1, beta gene (LMX1B, 602575.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/22199006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10060903 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10063431 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/PGy3. RCD CUI
http://purl.bioontology.org/ontology/CSP/0726-3953 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10063431 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10060903 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002104 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10063431 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D009261 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D009261 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10060903 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D06 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/22199006 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0008061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_9467 DOID 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 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 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://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://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://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