Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [ Orphanet:475 ]
Synonyms: cerebelloparenchymal disorder IV pure Joubert syndrome Joubert-Boltshauser syndrome JBTS classic Joubert syndrome Joubert syndrome Joubert syndrome type A CPD IV
Term information
- OMIMPS:213300 (MONDO:equivalentTo)
- GARD:6802 (MONDO:GARD)
- SCTID:716997004 (MONDO:equivalentTo)
- NORD:1312 (MONDO:NORD)
- MEDGEN:98464 (MONDO:equivalentTo)
- Orphanet:475 (MONDO:equivalentTo)
- DOID:0050777 (MONDO:equivalentTo)
- icd11.foundation:1414756318 (Orphanet:475)
- UMLS:C0431399 (MONDO:equivalentTo)
- NCIT:C74996 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, clingen, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease
http://www.orpha.net/ORDO/Orphanet_475
http://identifiers.org/snomedct/716997004
https://omim.org/phenotypicSeries/PS213300
http://purl.obolibrary.org/obo/DOID_0050777
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1414756318
http://purl.obolibrary.org/obo/NCIT_C74996
http://identifiers.org/medgen/98464
http://linkedlifedata.com/resource/umls/id/C0431399