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Pili Torti, Developmental Delay, Neurological Abnormalities - Ontology Report - Rat Genome Database

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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: HEPHL1-RELATED CONDITION;   abnormal hair, joint laxity, and developmental delay;   pili torti and developmental delay
 xref: MESH:C537398;   MIM:261990;   MONDO:0009871

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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: HEPHL1-related condition | ClinVar Annotator: match by term: Pili torti and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31125343 NCBI chr 8:11,896,768...11,965,282
Ensembl chr 8:11,898,532...11,965,267 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Pathologic Processes 8329
        Growth Disorders 1025
          Pili Torti, Developmental Delay, Neurological Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              hair disease 331
                Pili Torti 1
                  Pili Torti, Developmental Delay, Neurological Abnormalities 1
paths to the root