Sjogren-larsson-like ichthyosis without cns or eye involvement

Preferred Label : Sjogren-larsson-like ichthyosis without cns or eye involvement;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ichthyosis, sjogren-larsson-like, without cns or eye involvement;

Inheritance : Autosomal recessive; ? genetic compound of SLS gene and another recessive ichthyosis gene;

Prefixed ID : 270220;

Details

Origin ID

270220;

UMLS CUI

C1849195;

Automatic exact mappings (from CISMeF team)
- Sjogren-Larsson-like syndrome [MeSH concept]
- Sjogren-Larsson-like syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Hyperkeratosis [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal sweat gland morphology [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the nail [HPO term]
- Abnormality of the nervous system [HPO term]
- Hyperhidrosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sjogren-Larsson-like syndrome [MeSH Supplementary Concept]
- Sjogren-Larsson-like syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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