Cockayne syndrome type 3
http://purl.obolibrary.org/obo/MONDO_0008998
Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. [ http://www.diseaseinfosearch.org/Cockayne+Syndrome+Type+III/1704 ]
Term info
- OMIM:216411 (Orphanet:90324/btnt)
- GARD:0001417 (MONDO:equivalentTo)
- Orphanet:90324 (OMIM:216411)
ordo_clinical_subtype
Editor note: this is obsolete in OMIM but is still a valid class in Orphanet. No info in GHR
Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.
http://purl.obolibrary.org/obo/Orphanet_90324
Cockayne syndrome type III, Cockayne syndrome type 3
Cockayne syndrome, type III, Cockayne syndrome type C
MONDO:0008998
https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii