intellectual disability, X-linked 45
Go to external page http://purl.obolibrary.org/obo/MONDO_0010344
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: mental retardation, X-linked type 45 intellectual disability, X-linked 45 mental retardation, X-linked 45 non-syndromic X-linked intellectual disability caused by mutation in ZNF81 ZNF81 non-syndromic X-linked intellectual disability intellectual disability, X-linked type 45
Term information
- MESH:C564503 (MONDO:equivalentTo)
- GARD:22679 (MONDO:GARD)
- UMLS:C1845333 (MONDO:equivalentTo)
- OMIM:300498 (MONDO:equivalentTo)
- DOID:0112028 (MONDO:equivalentTo)
- MEDGEN:375633 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_member, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder
http://identifiers.org/medgen/375633
http://linkedlifedata.com/resource/umls/id/C1845333
https://omim.org/entry/300498
http://purl.obolibrary.org/obo/DOID_0112028
http://identifiers.org/mesh/C564503
Term relations
- non-syndromic X-linked intellectual disability and has material basis in germline mutation in some ZNF81