Holoprosencephaly 3

Preferred Label : Holoprosencephaly 3;

Symbol : HPE3;

CISMeF acronym : HLP3; HPE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HLP3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sonic hedgehog signaling molecule (SHH, 600725.0001);

Prefixed ID : #142945;

Details

Origin ID

142945;

UMLS CUI

C1840529;

Automatic exact mappings (from CISMeF team)
- HLP-3 [MeSH concept]
- HLP-3 polypeptide [MeSH Supplementary Concept]
- SHH wt Allele [NCIt concept]
- symbol withdrawn HPE3 [HGNC gene]
Currated CISMeF NLP mapping
- holoprosencephaly 3 [DO Concept]
- holoprosencephaly 3 [MeSH concept]
- holoprosencephaly 3 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 3 [DO Concept]
Genes related to phenotype
- Sonic hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Abnormality of the nose [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Central diabetes insipidus [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Cyclopia [HPO term]
- Depressed nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Holoprosencephaly [HPO term]
- Hydronephrosis [HPO term]
- Hypotelorism [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Proboscis [HPO term]
- Proptosis [HPO term]
- Short columella [HPO term]
- Single naris [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- holoprosencephaly 3 [MeSH Supplementary Concept]
- holoprosencephaly 3 [MeSH concept]
- holoprosencephaly 3 [DO Concept]

Keyword's position in hierarchy(ies) :

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