Holoprosencephaly 11

Preferred Label : Holoprosencephaly 11;

Symbol : HPE11;

CISMeF acronym : HPE11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cell adhesion molecule-related/downregulated by oncogenes gene (CDON, 608707.0001);

Prefixed ID : #614226;

Details

Origin ID

614226;

UMLS CUI

C3280215;

Currated CISMeF NLP mapping
- holoprosencephaly 11 [DO Concept]
DO Cross reference
- holoprosencephaly 11 [DO Concept]
Genes related to phenotype
- Cell adhesion molecule-related/downregulated by oncogenes [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Global developmental delay [HPO term]
- Holoprosencephaly [HPO term]
- Hypotelorism [HPO term]
- Microcephaly [HPO term]
- Polysplenia [HPO term]
- Proptosis [HPO term]
- Sporadic [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- holoprosencephaly 11 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients