hereditary hyperferritinemia with congenital cataracts
http://purl.obolibrary.org/obo/MONDO_0010952
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. [ Orphanet:163 ]
Term info
- GARD:0002806 (MONDO:equivalentTo)
- DOID:0111256 (MONDO:equivalentTo)
- SCTID:702398007 (MONDO:equivalentTo)
- UMLS:C1833213 (Orphanet:163/e)
- MESH:C538137 (Orphanet:163/e)
- Orphanet:163 (OMIM:600886)
- ICD9:289.89 (MONDO:relatedTo)
- ICD9:366.44 (MONDO:relatedTo)
- OMIM:600886 (Orphanet:163/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4069
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
http://linkedlifedata.com/resource/umls/id/C1833213, http://identifiers.org/snomedct/702398007, http://purl.obolibrary.org/obo/Orphanet_163, http://identifiers.org/mesh/C538137, https://omim.org/entry/600886, http://purl.obolibrary.org/obo/DOID_0111256
HHCS, hereditary hyperferritinemia-cataract syndrome, Bonneau-Beaumont syndrome
hyperferritinemia-cataract syndrome, hyperferritinemia with or without cataract, cataract-hyperferritinemia syndrome, HRFTC, hereditary hyperferritinemia cataract syndrome, hyperferritinemia cataract syndrome, hyperferritinemia, hereditary, with congenital cataracts
MONDO:0010952