loading...| Preferred Name | Joubert syndrome and related disorders | |
| Synonyms |
JSRD |
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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 |
Orphanet:140874 UMLS:CN199461 |
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| exactMatch | ||
| has exact synonym |
JSRD |
|
| id |
MONDO:0015369 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
Joubert syndrome and related disorders |
|
| notation |
MONDO:0015369 |
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| prefLabel |
Joubert syndrome and related disorders |
|
| textual 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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| subClassOf |