loading...| Preferred Name |
Agenesis of Cerebellar Vermis |
| Synonyms |
Cerebellar vermis agenesis |
| ID |
http://purl.bioontology.org/ontology/MESH/C536293 |
| altLabel |
Cerebellar vermis agenesis Cerebelloparenchymal disorder 4 Familial Aplasia of the Vermis Cerebellooculorenal syndrome 1 Joubert syndrome 1 Joubert-Boltshauser syndrome Joubert Syndrome Cerebello-Oculo-Renal Syndrome Cerebelloparenchymal Disorder IV |
| cui |
C0431399 C4551568 |
| Has mapping qualifier | |
| HM |
D000015 D012160/Q000002 D052177 D002531/Q000002 D005124 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D005124 http://purl.bioontology.org/ontology/MESH/D052177 http://purl.bioontology.org/ontology/MESH/D012160 |
| 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 T000880731 T826513 T738874 T738872 T738873 T801871 T738878 T000880729 T000880730 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |