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ONTOLOGY REPORT - ANNOTATIONS


Term:nail-patella syndrome
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Accession:DOID:9467 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Fong disease;   Hereditary Onycho-Osteodysplasia;   Hereditary Osteo-Onychodysplasia;   Hereditary Osteo-Onychodysplasias;   NPS;   NPS1;   Onychoosteodysplasia;   Osterreicher Syndrome;   Pelvic Horn Syndrome;   Turner Kieser syndrome;   Turner-Kiser syndrome;   hereditary onychoostedysplasia;   iliac horn syndrome
 primary_id: MESH:D009261
 alt_id: OMIM:161200
 xref: GARD:7160;   NCI:C75120;   ORDO:2614
For additional species annotation, visit the Alliance of Genome Resources.


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nail-patella syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb1 LIM domain binding 1 JBrowse link 1 265,772,729 265,798,442 RGD:13592920
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:1599750
RGD:8554872
RGD:1599751
RGD:7240710
RGD:11554173

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Path 1
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  disease 16017
    syndrome 6141
      nail-patella syndrome 2
        Salcedo Syndrome 0
Path 2
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  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                nail-patella syndrome 2
                  Salcedo Syndrome 0
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