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Preferred Name

甲髌综合症 / Nail-patella syndrome
Definitions

Nail patella syndrome is a hereditary osteo-onychodysplasia characterized by nail dysplasia with triangular lunula, hypoplastic or absent patellas, iliac exostoses (`iliac horns') and dysplastic elbows.
ID

http://purl.bmicc.cn/ontology/ICD11CN/LD24.J0
definition

Nail patella syndrome is a hereditary osteo-onychodysplasia characterized by nail dysplasia with triangular lunula, hypoplastic or absent patellas, iliac exostoses (`iliac horns') and dysplastic elbows.
hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/1121867410
label

甲髌综合症 / Nail-patella syndrome
mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/Q87.2
notation

LD24.J0
prefixIRI

ICD11CN:LD24.J0
prefLabel

甲髌综合症 / Nail-patella syndrome
subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/LD24.J
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http://purl.bioontology.org/ontology/MESH/D009261 Medical Subject Headings LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75120 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_9467 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/161200 Online Mendelian Inheritance in Man LOOM