Holoprosencephaly, recurrent infections, and monocytosis

Preferred Label : Holoprosencephaly, recurrent infections, and monocytosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Increased peripheral blood monocytes;

Prefixed ID : 610680;

Details

Origin ID

610680;

UMLS CUI

C1853187;

Currated CISMeF NLP mapping
- Holoprosencephaly, recurrent infections, and monocytosis [MeSH concept]
- holoprosencephaly, recurrent infections, and monocytosis [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the pinna [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cryptorchidism [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Holoprosencephaly [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Inverted nipples [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Monocytosis [HPO term]
- Recurrent infections [HPO term]
- Recurrent skin infections [HPO term]
- Short finger [HPO term]
- Short toe [HPO term]
- Sloping forehead [HPO term]
- Tapered finger [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly, recurrent infections, and monocytosis [MeSH concept]
- holoprosencephaly, recurrent infections, and monocytosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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