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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:nail-patella syndrome
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Accession:EFO:MONDO:0008061 term browser browse the term
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.
Synonyms:exact_synonym: Fong disease;   NPS 1;   NPS1;   Turner-Kieser syndrome;   Turner-Kiser syndrome;   hereditary Osteo-onychodysplasia;   hereditary onychoostedysplasia;   iliac horn syndrome;   onychoosteodysplasia;   osteo-onychodysplasia
 related_synonym: NPS;   arthro-onychodysplasia
 alt_id: MONDO:0008061
 xref: DOID:9467;   GARD:7160;   ICD9:759.89;   MEDGEN:10257;   MESH:D009261;   MIM:161200;   MedDRA:10063431;   NANDO:1200967;   NANDO:2200132;   NCI:C75120;   NORD:1488;   ORDO:2614;   SCTID:22199006;   UMLS:C0027341;   icd11.foundation:1121867410
 see_also: https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome" xsd:anyURI {source="GARD:0007160


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            nail-patella syndrome 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  dysostosis 0
                    nail-patella syndrome 0
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