loading...| Preferred Name | ocular motor apraxia, Cogan type | |
| Synonyms |
Cogan syndrome type 2 congenital oculomotor apraxia Cogan's syndrome type 2 saccade initiation failure, congenital oculomotor apraxia Cogan type saccade initiation failure congenital ocular motor apraxia COMA oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type |
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| Definitions |
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009764 |
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| database_cross_reference |
UMLS:C0543874 MESH:C537423 Orphanet:1125 MEDGEN:154254 SCTID:405809000 OMIM:257550 DOID:0080849 GARD:16 NORD:1517 |
|
| definition |
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. |
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| has_exact_synonym |
oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type |
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| has_related_synonym |
Cogan syndrome type 2 congenital oculomotor apraxia Cogan's syndrome type 2 saccade initiation failure, congenital oculomotor apraxia Cogan type saccade initiation failure congenital ocular motor apraxia COMA |
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| IAO_0000233 | ||
| id |
MONDO:0009764 |
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| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
ocular motor apraxia, Cogan type |
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| notation |
MONDO:0009764 |
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| preferred label |
ocular motor apraxia, Cogan type |
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| prefLabel |
ocular motor apraxia, Cogan type |
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| skos_exactMatch |
http://identifiers.org/mesh/C537423 http://purl.obolibrary.org/obo/Orphanet_1125 http://identifiers.org/snomedct/405809000 http://purl.obolibrary.org/obo/DOID_0080849 |
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| subClassOf |