Ichthyosis, hepatosplenomegaly, and cerebellar degeneration

Preferred Label : Ichthyosis, hepatosplenomegaly, and cerebellar degeneration;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; X-linked not ruled out;

Prefixed ID : 242520;

Details

Origin ID

242520;

UMLS CUI

C1275088;

Currated CISMeF NLP mapping
- Dykes Markes Harper syndrome [MeSH concept]
- Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) [SNOMED CT concept]
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [ORDO Disease]
- dykes markes harper syndrome [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Hepatosplenomegaly [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
ORDO concept(s)
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dykes Markes Harper syndrome [MeSH concept]
- Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) [SNOMED CT concept]
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [ORDO Disease]
- dykes markes harper syndrome [MeSH Supplementary Concept]

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