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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:Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
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Accession:DOID:9003030 term browser browse the term
Synonyms:exact_synonym: SOFT;   SOFT Syndrome
 primary_id: OMIM:614813;   RDO:9001072
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by OMIM:614813
ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
OMIM
ClinVar
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            nail disease 58
              Malformed Nails 21
                Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
paths to the root