Ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development

Preferred Label : Ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ichthyosis with alopecia, eclabium, ectropion, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 242510;

Details

Origin ID

242510;

UMLS CUI

C1855788;

Currated CISMeF NLP mapping
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome [ORDO Disease]
- Jagell Holmgren Hofer syndrome [MeSH concept]
- jagell holmgren hofer syndrome [MeSH Supplementary Concept]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Eclabion [HPO term]
- Ectropion [HPO term]
- Everted lower lip vermilion [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome [ORDO Disease]
- Jagell Holmgren Hofer syndrome [MeSH concept]
- jagell holmgren hofer syndrome [MeSH Supplementary Concept]

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