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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: MIM:161200
 xref: GARD:7160;   NCI:C75120;   ORDO:2614


show annotations for term's descendants           Sort by:
nail-patella syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb1 LIM domain binding 1 ISS OMIM:161200 MouseDO NCBI chr 1:244,864,168...244,890,007
Ensembl chr 1:244,877,173...244,890,013 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO
ISS		 ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome
OMIM:161200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:9536098 PMID:9590287 PMID:9618165 PMID:9837817 PMID:10571942 More... RGD:1599750, RGD:1599751 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Mvb12b multivesicular body subunit 12B ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 3:17,034,002...17,192,658
Ensembl chr 3:17,034,003...17,193,202 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909 		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: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      nail-patella syndrome 4
        Salcedo Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      musculoskeletal system disease 8479
        connective tissue disease 5949
          bone disease 4404
            bone inflammation disease 1555
              arthropathy 1534
                nail-patella syndrome 4
                  Salcedo Syndrome 1
paths to the root