loading...| Preferred Name |
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|
| 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://www.orpha.net/ORDO/Orphanet_140874 |
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| Obsolete |
true |
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| 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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| definition_citation |
orphanet |
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| deprecated |
true |
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| has_exact_synonym |
JSRD |
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| label |
obsolete_Joubert syndrome and related disorders |
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| obsoleted_in_version |
3.41.0 |
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| reason_for_obsolescence |
Replaced with Mondo term. |
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| term replaced by | ||
| subClassOf |