loading...| Preferred Name | Joubert syndrome and related disorders | |
| Synonyms |
JSRD Joubert syndrome and related disorders |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015369 |
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| database_cross_reference |
NANDO:1200661 NANDO:2200824 Orphanet:140874 MEDGEN:1826007 NANDO:2100218 GARD:19931 UMLS:C5679612 |
|
| definition |
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. |
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| has_exact_synonym |
JSRD Joubert syndrome and related disorders |
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| id |
MONDO:0015369 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
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| label |
Joubert syndrome and related disorders |
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| notation |
MONDO:0015369 |
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| prefLabel |
Joubert syndrome and related disorders |
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| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C5679612 |
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| treeView | ||
| subClassOf |