Holoprosencephaly 9

Preferred Label : Holoprosencephaly 9;

Symbol : HPE9;

CISMeF acronym : HPE9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Holoprosencephaly with microphthalmia and first branchial arch anomalies; Pituitary anomalies with holoprosencephaly-like features;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GLI-kruppel family member 2 gene (GLI2, 165230.0001);

Prefixed ID : #610829;

Details

Origin ID

610829;

UMLS CUI

C1835819;

Automatic exact mappings (from CISMeF team)
- GLI family zinc finger 2 [ORDO Gene]
- GLI family zinc finger 2 [HGNC gene]
- GLI2 wt Allele [NCIt concept]
- holoprosencephaly 10 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- holoprosencephaly 9 [DO Concept]
- holoprosencephaly 9 [MeSH concept]
- holoprosencephaly 9 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 9 [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 2 [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Agenesis of incisor [HPO term]
- Anophthalmia [HPO term]
- Anterior pituitary agenesis [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the premaxilla [HPO term]
- Hypotelorism [HPO term]
- Incomplete penetrance [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Optic nerve hypoplasia [HPO term]
- Panhypopituitarism [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent antihelix [HPO term]
- Seizure [HPO term]
- Short hard palate [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single naris [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Sporadic [HPO term]
- Underdeveloped tragus [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 9 [MeSH Supplementary Concept]
- holoprosencephaly 9 [MeSH concept]
- holoprosencephaly 9 [DO Concept]

Keyword's position in hierarchy(ies) :

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