LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). [ Orphanet:99812 ]
Synonyms: ligase 4 syndrome DNA ligase IV deficiency LIG4 syndrome
Term information
- NCIT:C122657 (MONDO:equivalentTo)
- SCTID:724177005 (MONDO:equivalentTo)
- DOID:0060021 (MONDO:equivalentTo)
- GARD:15000 (MONDO:GARD)
- MESH:C564694 (MONDO:equivalentTo)
- MEDGEN:339855 (MONDO:equivalentTo)
- UMLS:C1847827 (MONDO:equivalentTo)
- Orphanet:99812 (OMIM:606593)
- OMIM:606593 (Orphanet:99812/e)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_immune_system_disorder, matrix_included, nord_rare, clingen, mondo_top_grouping_immune_system_disorder, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
https://omim.org/entry/606593
http://www.orpha.net/ORDO/Orphanet_99812
http://linkedlifedata.com/resource/umls/id/C1847827
http://purl.obolibrary.org/obo/NCIT_C122657
http://identifiers.org/mesh/C564694
http://identifiers.org/medgen/339855
http://identifiers.org/snomedct/724177005
http://purl.obolibrary.org/obo/DOID_0060021