A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [ NCIT:C61267 ]
Term information
- NCIT:C61267 (MONDO:equivalentTo)
- GARD:18975 (MONDO:GARD)
- DOID:0080488 (MONDO:equivalentTo)
- Orphanet:79212 (MONDO:equivalentTo)
- MESH:D009081 (Orphanet:79212/e)
- icd11.foundation:714623911 (Orphanet:79212)
- MEDGEN:7731 (MONDO:equivalentTo)
- UMLS:C0026697 (MONDO:equivalentTo)
- SCTID:70528007 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_metabolic_disease, ordo_group_of_disorders
http://purl.obolibrary.org/obo/DOID_0080488
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/714623911
http://identifiers.org/snomedct/70528007
http://purl.obolibrary.org/obo/NCIT_C61267
http://identifiers.org/mesh/D009081
http://identifiers.org/medgen/7731
http://www.orpha.net/ORDO/Orphanet_79212
http://linkedlifedata.com/resource/umls/id/C0026697