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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:congenital limbs-face contractures-hypotonia-developmental delay syndrome
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Accession:DOID:0081048 term browser browse the term
Definition:A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. (DO)
Synonyms:exact_synonym: CLIFAHDD;   CLIFAHDD syndrome;   congenital contractures of the limbs and face, hypotonia, and developmental delay
 primary_id: OMIM:616266
 alt_id: DOID:9005675
 xref: EFO:1001868;   ORDO:562528


show annotations for term's descendants           Sort by:
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        peripheral nervous system disease 4075
          neuropathy 3862
            neuromuscular disease 3038
              muscular disease 2122
                Contracture 136
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
paths to the root