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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:Pili Torti, Developmental Delay, Neurological Abnormalities
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Accession:DOID:9001704 term browser browse the term
Synonyms:exact_synonym: abnormal hair, joint laxity, and developmental delay;   pili torti and developmental delay
 primary_id: MESH:C537398
 alt_id: OMIM:261990
For additional species annotation, visit the Alliance of Genome Resources.


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Pili Torti, Developmental Delay, Neurological Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hephl1 hephaestin-like 1 ISO ClinVar Annotator: match by term: Pili torti developmental delay neurological abnormalities
ClinVar Annotator: match by term: Pili torti and developmental delay
ClinVar
OMIM
PMID:25741868 PMID:31125343 NCBI chr 8:11,896,768...11,965,298
Ensembl chr 8:11,898,532...11,965,267
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Growth Disorders 782
          Pili Torti, Developmental Delay, Neurological Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            hair disease 246
              Pili Torti 1
                Pili Torti, Developmental Delay, Neurological Abnormalities 1
paths to the root