Lambotte syndrome

Preferred Label : Lambotte syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microcephaly, holoprosencephaly, and intrauterine growth retardation;

Inheritance : Autosomal recessive;

Prefixed ID : %245552;

Details

Origin ID

245552;

UMLS CUI

C1855550;

Currated CISMeF NLP mapping
- Lambotte syndrome [MeSH concept]
- lambotte syndrome [MeSH Supplementary Concept]
HPO term(s)
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Hypertelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Preaxial foot polydactyly [HPO term]
- Retrognathia [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lambotte syndrome [MeSH concept]
- lambotte syndrome [MeSH Supplementary Concept]

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