Microcephaly with chemotactic defect and transient hypogammaglobulinemia

Preferred Label : Microcephaly with chemotactic defect and transient hypogammaglobulinemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 251240;

Details

Origin ID

251240;

UMLS CUI

C1855078;

Automatic exact mappings (from CISMeF team)
- Say-Barber-Miller syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- microcephaly with chemotactic defect and transient hypogammaglobulinemia [MeSH concept]
- microcephaly with chemotactic defect and transient hypogammaglobulinemia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Flexion contracture [HPO term]
- Hypogonadism [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Patellar hypoplasia [HPO term]
- Protruding ear [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Sloping forehead [HPO term]
- Transient hypogammaglobulinemia of infancy [HPO term]
ORDO concept(s)
- Say-Barber-Miller syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly with chemotactic defect and transient hypogammaglobulinemia [MeSH Supplementary Concept]
- microcephaly with chemotactic defect and transient hypogammaglobulinemia [MeSH concept]

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