amaurosis-hypertrichosis syndrome
http://purl.obolibrary.org/obo/MONDO_0008766
Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. [ Orphanet:1021 ]
Term info
- ICD10CM:H35.5 (Orphanet:1021/ntbt)
- MESH:C536604 (Orphanet:1021/e)
- SCTID:720983002 (MONDO:equivalentTo)
- GARD:0000637 (MONDO:equivalentTo)
- OMIM:204110 (Orphanet:1021/e)
- Orphanet:1021 (OMIM:204110)
gard_rare, ordo_disease
Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
https://omim.org/entry/204110, http://identifiers.org/mesh/C536604, http://purl.obolibrary.org/obo/Orphanet_1021, http://identifiers.org/snomedct/720983002
amaurosis congenita cone-rod type with congenital hypertrichosis, amaurosis congenita, cone-rod type, with congenital hypertrichosis
MONDO:0008766
https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis