X-linked intellectual disability with hypopituitarism
Go to external page http://purl.obolibrary.org/obo/MONDO_0100195
An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. [ http://www.ncbi.nlm.nih.gov/pubmed/24450934 https://clinicalgenome.org/affiliation/40006/ ]
Term information
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, harrisons_view_psychiatric_disorder, matrix_included, nord_rare, 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_syndromic_disease, harrisons_view_hereditary_disease, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease