X-linked complicated corpus callosum dysgenesis
Go to external page http://purl.obolibrary.org/obo/MONDO_0010569
X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. [ Orphanet:1497 ]
Synonyms: corpus callosum, partial agenesis of, X-linked recessive
Term information
- icd11.foundation:1765391162 (MONDO:equivalentTo)
- GARD:12526 (MONDO:GARD)
- MESH:C564115 (MONDO:equivalentTo)
- Orphanet:1497 (OMIM:304100)
- MEDGEN:374339 (MONDO:equivalentTo)
- OMIM:304100 (Orphanet:1497/e)
- UMLS:C1839909 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, ordo_subtype_of_a_disorder, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1765391162
http://www.orpha.net/ORDO/Orphanet_1497
http://linkedlifedata.com/resource/umls/id/C1839909
http://identifiers.org/mesh/C564115
https://omim.org/entry/304100
http://identifiers.org/medgen/374339
X-linked partial corpus callosum agenesis
X-linked complicated corpus callosum agenesis
X-linked partial agenesis of corpus callosum
corpus callosum, partial agenesis of, X-linked