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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


show annotations for term's descendants           Sort by:
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 term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM
ClinVar		 PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Anatomical Pathological Conditions 2657
        Malformed Nails 30
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              hair disease 328
                hypotrichosis 148
                  Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
paths to the root