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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the LMX1B gene 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
 broad_synonym: LMX1B-RELATED CONDITION
 primary_id: MESH:D009261
 alt_id: OMIM:161200
 xref: GARD:7160;   NCI:C75120;   ORDO:2614

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nail-patella syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb1 LIM domain binding 1 ISO OMIM:161200 MouseDO NCBI chrNW_004955485:8,229,517...8,242,003
Ensembl chrNW_004955485:8,229,517...8,241,142 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome OMIM
ClinVar		 PMID:9536098 PMID:9590287 PMID:9618165 PMID:9837817 PMID:10571942 More... NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
G Mvb12b multivesicular body subunit 12B ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chrNW_004955419:1,949,211...2,116,525
Ensembl chrNW_004955419:1,949,156...2,104,098 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chrNW_004955419:1,660,186...1,681,701
Ensembl chrNW_004955419:1,660,186...1,681,701 		JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nail-patella-like renal disease OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      nail-patella syndrome 4
        Salcedo Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            bone inflammation disease 1195
              arthropathy 1176
                nail-patella syndrome 4
                  Salcedo Syndrome 1
paths to the root