Holoprosencephaly 2

Preferred Label : Holoprosencephaly 2;

Symbol : HPE2;

CISMeF acronym : HPE2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SIX homeobox 3 gene (SIX3, 603714.0001);

Prefixed ID : #157170;

Details

Origin ID

157170;

UMLS CUI

C1834877;

Currated CISMeF NLP mapping
- Holoprosencephaly Type 2 [NCIt concept]
- holoprosencephaly 2 [DO Concept]
- holoprosencephaly 2 [MeSH concept]
- holoprosencephaly 2 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 2 [DO Concept]
False automatic mappings
- SIX3 wt Allele [NCIt concept]
Genes related to phenotype
- Six homeobox 3 [OMIM gene]
HPO term(s)
- Absent nasal septal cartilage [HPO term]
- Adrenal hypoplasia [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anterior pituitary agenesis [HPO term]
- Aplasia of the nose [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cerebellar hypoplasia [HPO term]
- Constipation [HPO term]
- Cyclopia [HPO term]
- Diabetes insipidus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Holoprosencephaly [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Malar flattening [HPO term]
- Median cleft lip and palate [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Proboscis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Single ventricle [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Sporadic [HPO term]
- Submucous cleft hard palate [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Alobar holoprosencephaly [ORDO Disease]
- Holoprosencephaly [ORDO Disease]
- Lobar holoprosencephaly [ORDO Disease]
- Microform holoprosencephaly [ORDO Disease]
- Midline interhemispheric variant of holoprosencephaly [ORDO Disease]
- Semilobar holoprosencephaly [ORDO Disease]
- Septopreoptic holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly Type 2 [NCIt concept]
- holoprosencephaly 2 [MeSH Supplementary Concept]
- holoprosencephaly 2 [MeSH concept]
- holoprosencephaly 2 [DO Concept]

Keyword's position in hierarchy(ies) :

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