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ONTOLOGY REPORT - ANNOTATIONS


Term:CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
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Accession:DOID:9005675 term browser browse the term
Definition:A congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. (OMIM)
Synonyms:exact_synonym: CLIFAHDD
 primary_id: OMIM:616266;   RDO:9001220
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CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Neurodevelopmental Disorders 2775
        Developmental Disabilities 346
          CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              Neurodevelopmental Disorders 2775
                Developmental Disabilities 346
                  CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.