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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: OMIM: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
IAGP
EXP
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)
ClinVar Annotator: match by term: DNA ligase IV deficiency
ClinVar Annotator: match by term: LIG4-Related Disorders
ClinVar Annotator: match by term: Lig4 syndrome
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: DNA ligase IV deficiency | ClinVar Annotator: match by term: Lig4 syndrome		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... RGD:8694074, RGD:13204707, RGD:13204717 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Pathologic Processes 13181
        Growth Disorders 1314
          DNA ligase IV deficiency 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal recessive disease 10238
                DNA ligase IV deficiency 1
paths to the root