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ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
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Accession:EFO:MONDO:0009445 term browser browse the term
Definition:Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Synonyms:exact_synonym: Dykes-Marks-Harper syndrome;   Orphanet:2274;   http://identifiers.org/medgen/266150;   http://identifiers.org/mesh/C535727;   http://identifiers.org/snomedct/403779009;   http://linkedlifedata.com/resource/umls/id/C1275088;   https://omim.org/entry/242520
 related_synonym: Dykes Markes Harper syndrome;   ichthyosis, hepatosplenomegaly, and cerebellar degeneration
 alt_id: MONDO:0009445
 xref: GARD:1993;   ICD9:571.8;   MEDGEN:266150;   MESH:C535727;   MIM:242520;   ORDO:2274;   SCTID:403779009;   UMLS:C1275088

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