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Preferred Name

NAIL-PATELLA SYNDROME
Synonyms

FONG DISEASE
ID

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

FONG DISEASE

NPS1

ONYCHOOSTEODYSPLASIA

NPS

TURNER-KIESER SYNDROME
cui

C0027341
Gene Locus

9q34.1
Gene Symbol

NPS1

FSGS10

LMX1B
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU008928
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.bmicc.cn/ontology/ICD11CN/LD24.J0 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/D009261 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D009261 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75120 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_9467 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9467 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_2614 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008061 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI