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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 1:265,772,729...265,798,442
Ensembl chr 1:265,785,409...265,798,167
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nail-patella syndrome
ClinVar Annotator: match by OMIM:161200
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9590287, PMID:9618165, PMID:9837817, PMID:10854116, PMID:15498463, PMID:15774843, PMID:18414213, PMID:18414507, PMID:19147669, PMID:20199424, PMID:25741868, PMID:26380986, PMID:28335748, PMID:28492532, PMID:9590287, PMID:15498463 RGD:1599750, RGD:1599751 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      nail-patella syndrome 2
        Salcedo Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                nail-patella syndrome 2
                  Salcedo Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.