Leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis

Preferred Label : Leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis;

Inheritance : Autosomal recessive;

Prefixed ID : 246500;

Details

Origin ID

246500;

UMLS CUI

C1855504;

Currated CISMeF NLP mapping
- Berlin syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, Berlin type [ICD-11 More detail]
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome [ORDO Disease]
- leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis [MeSH concept]
- leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Growth delay [HPO term]
- Hypodontia [HPO term]
- Hypotrichosis [HPO term]
- Intellectual disability [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome [ORDO Disease]
- leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis [MeSH Supplementary Concept]
- leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis [MeSH concept]

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