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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| altLabel |
JSRD Joubert syndrome and related disorders |
|
| 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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| label |
Joubert syndrome and related disorders |
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| prefixIRI |
MONDO:0015369 |
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| prefLabel |
Joubert syndrome and related disorders |
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| 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 |