Metaphyseal dysplasia, anetoderma, and optic atrophy

Preferred Label : Metaphyseal dysplasia, anetoderma, and optic atrophy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 250450;

Details

Origin ID

250450;

UMLS CUI

C1855174;

Currated CISMeF NLP mapping
- metaphyseal dysplasia, anetoderma, and optic atrophy [MeSH concept]
- metaphyseal dysplasia, anetoderma, and optic atrophy [MeSH Supplementary Concept]
HPO term(s)
- Anetoderma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cranial nerve compression [HPO term]
- Dermal atrophy [HPO term]
- Macular atrophy [HPO term]
- Metaphyseal dysplasia [HPO term]
- Optic atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- metaphyseal dysplasia, anetoderma, and optic atrophy [MeSH Supplementary Concept]
- metaphyseal dysplasia, anetoderma, and optic atrophy [MeSH concept]

Keyword's position in hierarchy(ies) :

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