Holoprosencephaly 7

Preferred Label : Holoprosencephaly 7;

Symbol : HPE7;

CISMeF acronym : HPE7;

Type : Phenotype, molecular basis known;

Description : Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the patched 1 gene (PTCH1, 601309.0011);

Prefixed ID : #610828;

Details

Origin ID

610828;

UMLS CUI

C1835820;

Automatic exact mappings (from CISMeF team)
- PTCH1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Holoprosencephaly [ORDO Disease]
Currated CISMeF NLP mapping
- holoprosencephaly 7 [DO Concept]
- holoprosencephaly 7 [MeSH concept]
- holoprosencephaly 7 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 7 [DO Concept]
Genes related to phenotype
- Patched 1 [OMIM gene]
HPO term(s)
- Absent nasal septal cartilage [HPO term]
- Agenesis of corpus callosum [HPO term]
- Alobar holoprosencephaly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Bilateral microphthalmos [HPO term]
- Broad face [HPO term]
- Depressed nasal tip [HPO term]
- Flat nasal alae [HPO term]
- Flat occiput [HPO term]
- Frontal bossing [HPO term]
- Fusion of the left and right thalami [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the premaxilla [HPO term]
- Hypotelorism [HPO term]
- Incomplete penetrance [HPO term]
- Iris coloboma [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Median cleft lip and palate [HPO term]
- Midface retrusion [HPO term]
- Midline defect of the nose [HPO term]
- Omphalocele [HPO term]
- Panhypopituitarism [HPO term]
- Parietal bossing [HPO term]
- Seizure [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Short nose [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Upslanted palpebral fissure [HPO term]
- frontal and biparietal bossing [HPO term]
ORDO concept(s)
- Holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- holoprosencephaly 7 [MeSH Supplementary Concept]
- holoprosencephaly 7 [MeSH concept]
- holoprosencephaly 7 [DO Concept]

Keyword's position in hierarchy(ies) :

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