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cataract-nephropathy-encephalopathy syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:cataract-nephropathy-encephalopathy syndrome
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Accession:EFO:MONDO:0009045 term browser browse the term
Definition:Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
Synonyms:exact_synonym: Orphanet:1380;   crome syndrome;   http://identifiers.org/medgen/167082;   http://identifiers.org/mesh/C536216;   http://identifiers.org/snomedct/722381004;   http://linkedlifedata.com/resource/umls/id/C0795914;   https://omim.org/entry/218900
 related_synonym: congenital cataracts, renal tubular necrosis and encephalopathy in two sisters
 alt_id: MONDO:0009045
 xref: GARD:1614;   MEDGEN:167082;   MESH:C536216;   MIM:218900;   ORDO:1380;   SCTID:722381004;   UMLS:C0795914

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