Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. [ Orphanet:157946 ]
Synonyms: HDL3 Huntington disease-like 3 Huntington disease-like type 3
Term information
- MEDGEN:347622 (MONDO:equivalentTo)
- GARD:16986 (MONDO:GARD)
- Orphanet:157946 (OMIM:604802)
- UMLS:C1858114 (MONDO:equivalentTo)
- OMIM:604802 (Orphanet:157946/e)
- MESH:C565747 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease
http://linkedlifedata.com/resource/umls/id/C1858114
https://omim.org/entry/604802
http://www.orpha.net/ORDO/Orphanet_157946
http://identifiers.org/mesh/C565747
http://identifiers.org/medgen/347622