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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
 broad_synonym: NALCN-RELATED CONDITION;   NALCN-RELATED DISORDERS
 primary_id: MIM:616266
 alt_id: DOID:9005675
 xref: EFO:1001868;   ORDO:562528


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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 OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 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 19099
    syndrome 11271
      congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                Contracture 141
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
paths to the root