Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:cerebellum
brainstem |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:characteristic |
molar tooth sign
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:firstDescribed |
1969
Marie Joubert |
| gptkbp:hasOrphanetID |
ORPHA:568
|
| gptkbp:hasRelatedGene |
gptkb:CEP290
ARL13B MKS1 NPHP1 AHI1 B9D1 B9D2 C5ORF42 CC2D2A CSPP1 INPP5E KIF7 OFD1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM17 TMEM216 TMEM231 TMEM237 TMEM67 |
| https://www.w3.org/2000/01/rdf-schema#label |
Joubert syndrome
|
| gptkbp:ICD-10_code |
Q04.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
213300
|
| gptkbp:symptom |
gptkb:oculomotor_apraxia
hypotonia intellectual disability ataxia developmental delay abnormal breathing patterns |
| gptkbp:bfsParent |
gptkb:CEP290
gptkb:CEP290_gene |
| gptkbp:bfsLayer |
7
|