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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 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 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 ClinVar Annotator: match by term: Nail-patella syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9590287 PMID:9618165 PMID:9837817 PMID:10854116 PMID:15498463 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
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 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 18030
    syndrome 9456
      nail-patella syndrome 2
        Salcedo Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                nail-patella syndrome 2
                  Salcedo Syndrome 1
paths to the root