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[X] Joubert syndrome and related disorders

Go to external page http://purl.obolibrary.org/obo/MONDO_0015369

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. [ Orphanet:140874 ]

Synonyms: Joubert syndrome and related disorders JSRD

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1826007 (MONDO:equivalentTo)
  • NANDO:2200824 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200661 (https://orcid.org/0000-0003-0011-764X)
  • GARD:19931 (MONDO:GARD)
  • UMLS:C5679612 (MONDO:equivalentTo)
  • Orphanet:140874 (MONDO:equivalentTo)
  • NANDO:2100218 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, 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, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_nervous_system_disorder

ClinGen label
Joubert syndrome and related disorders [ Orphanet:140874 ]

abbreviation
JSRD [ Orphanet:140874 ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_140874

http://linkedlifedata.com/resource/umls/id/C5679612

http://identifiers.org/medgen/1826007

id

MONDO:0015369