Holoprosencephaly 5

Preferred Label : Holoprosencephaly 5;

Symbol : HPE5;

CISMeF acronym : HPE5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein of cerebellum 2 gene (ZIC2, 603073.0001);

Prefixed ID : #609637;

Details

Origin ID

609637;

UMLS CUI

C1864827;

Automatic exact mappings (from CISMeF team)
- Midline interhemispheric variant of holoprosencephaly [ORDO Disease]
- ZIC2 wt Allele [NCIt concept]
- Zic family member 2 [ORDO Gene]
- Zic family member 2 [HGNC gene]
Broader ORDO disease(s)
- Holoprosencephaly [ORDO Disease]
Currated CISMeF NLP mapping
- Holoprosencephaly Type 5 [NCIt concept]
- holoprosencephaly 5 [DO Concept]
- holoprosencephaly 5 [MeSH concept]
- holoprosencephaly 5 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 5 [DO Concept]
Genes related to phenotype
- Zic family, member 2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Alobar holoprosencephaly [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Central diabetes insipidus [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Dilation of lateral ventricles [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Lobar holoprosencephaly [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Oral cleft [HPO term]
- Seizure [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Sloping forehead [HPO term]
- Synophrys [HPO term]
- Syntelencephaly [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [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 5 [NCIt concept]
- holoprosencephaly 5 [MeSH Supplementary Concept]
- holoprosencephaly 5 [MeSH concept]
- holoprosencephaly 5 [DO Concept]

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