loading...| Preferred Name |
Agenesis of Cerebellar Vermis |
|
| Synonyms |
Cerebelloparenchymal Disorder IV |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536293 |
|
| altLabel |
Cerebelloparenchymal Disorder IV Joubert-Boltshauser syndrome Cerebellar vermis agenesis Joubert syndrome 1 Cerebellooculorenal syndrome 1 Cerebello-Oculo-Renal Syndrome Cerebelloparenchymal disorder 4 Familial Aplasia of the Vermis Joubert Syndrome |
|
| cui |
C0431399 C4551568 |
|
| Has mapping qualifier | ||
| HM |
D012160/Q000002 D000015 D002531/Q000002 D052177 D005124 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D052177 http://purl.bioontology.org/ontology/MESH/D002531 http://purl.bioontology.org/ontology/MESH/D000015 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
342 |
|
| MMR |
20190401 |
|
| notation |
C536293 |
|
| prefLabel |
Agenesis of Cerebellar Vermis |
|
| SC |
3 |
|
| Scope Statement |
A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300 |
|
| TERMUI |
T738875 T826513 T738872 T000880729 T738874 T000880731 T738873 T000880730 T738878 T801871 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |