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