loading...| Preferred Name | Apraxia, oculomotor, Cogan type | |
| Synonyms |
Congenital Oculomotor Apraxia Saccade initiation failure, congenital Ocular Motor Apraxia Cogan's syndrome, type 2 Oculomotor Apraxia, Cogan Type |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537423 |
|
| altLabel |
Congenital Oculomotor Apraxia Saccade initiation failure, congenital Ocular Motor Apraxia Cogan's syndrome, type 2 Oculomotor Apraxia, Cogan Type |
|
| cui |
C3489733 C0543874 |
|
| Has mapping qualifier | ||
| HM |
D055952 D001072/Q000151 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
96 |
|
| MMR |
20160707 |
|
| notation |
C537423 |
|
| prefLabel |
Apraxia, oculomotor, Cogan type |
|
| SC |
3 |
|
| Scope Statement |
A very rare hereditary condition characterized by defective or absent voluntary horizontal EYE MOVEMENTS and defective or absent horizontal ocular attraction movements. Sympotms usually improve by the first or second decade of life. Inheritance may be autosomal recessive or dominant and variations have been mapped to chromosome 2. OMIM: 257550 |
|
| TERMUI |
T742551 T742550 T801998 T801997 T742552 T742553 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |