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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:DNA ligase IV deficiency
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Accession:DOID:0060021 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)
Synonyms:exact_synonym: DNA Ligase IV Syndrome;   LIG4 Syndrome;   LIG4-related disorder;   LIG4-related disorders
 narrow_synonym: PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS
 primary_id: MESH:C564694
 alt_id: MIM:606593
 xref: NCI:C122657


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DNA ligase IV deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO
ISS		 DNA:missense mutation: :p.Y288C (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
DNA:missense mutation: :p.R278H (mouse)
CTD Direct Evidence: marker/mechanism
OMIM:606593
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... RGD:8694074, RGD:13204707, RGD:13204717 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Pathological Conditions, Signs and Symptoms 13617
      Pathologic Processes 8266
        Growth Disorders 1023
          DNA ligase IV deficiency 1
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10879
            autosomal genetic disease 10366
              autosomal recessive disease 6962
                DNA ligase IV deficiency 1
paths to the root