loading...| Preferred Name | COFS syndrome | |
| Synonyms |
Pena-Shokeir syndrome type 2 Cerebrooculofacioskeletal syndrome |
|
| Definitions |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_1466 |
|
| alternative_term |
Pena-Shokeir syndrome type 2 Cerebrooculofacioskeletal syndrome |
|
| definition |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1466 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:Q87.1 OMIM:610758 OMIM:610756 OMIM:214150 UMLS:C5399761 OMIM:616570 OMIM:278780 ICD-11:LD2B |
|
| label |
COFS syndrome |
|
| notation |
Clinical subtype ORPHA:1466 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98649 |
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| prefixIRI |
ORDO:Orphanet_1466 |
|
| prefLabel |
COFS syndrome |
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| present_in |
Worldwide AND has_cases/families_value : 20.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_98649 |
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| subClassOf |