Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum

Preferred Label : Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive vs. X-linked; ? contiguous gene syndrome;

Prefixed ID : 225040;

Details

Origin ID

225040;

UMLS CUI

C1857053;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skeletal system [HPO term]
- Agenesis of corpus callosum [HPO term]
- Contiguous gene syndrome [HPO term]
- Goiter [HPO term]
- Hypohidrotic ectodermal dysplasia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Primary hypothyroidism [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH concept]

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