Holoprosencephaly 4

Preferred Label : Holoprosencephaly 4;

Symbol : HPE4;

CISMeF acronym : HPE4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #142946;

Détails

Origin ID

142946;

UMLS CUI

C1840528;

Currated CISMeF NLP mapping
- Holoprosencephaly Type 4 [NCIt concept]
- holoprosencephaly 4 [DO Concept]
- holoprosencephaly 4 [MeSH concept]
- holoprosencephaly 4 [MeSH Supplementary Concept]
DO Cross reference
- holoprosencephaly 4 [DO Concept]
Genes related to phenotype
- Transforming growth factor-beta-induced factor [OMIM gene]
HPO term(s)
- Absent nasal septal cartilage [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal tip [HPO term]
- Flattened nasal bridge [HPO term]
- Flattened nasal tip [HPO term]
- Hypotelorism [HPO term]
- Median cleft lip [HPO term]
- Median cleft lip and palate [HPO term]
- Ptosis [HPO term]
- Semilobar holoprosencephaly [HPO term]
ORDO concept(s)
- Holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly Type 4 [NCIt concept]
- holoprosencephaly 4 [MeSH Supplementary Concept]
- holoprosencephaly 4 [MeSH concept]
- holoprosencephaly 4 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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