holoprosencephaly 9
holoprosencephaly that has material basis in heterozygous mutation in the GLI2 gene on chromosome 2q14
Facts
4 properties- Instance of
- class of disease
- Subclass of
- holoprosencephaly, genetic disease, autosomal dominant disease
- On focus list of Wikimedia project
- WikiProject Medicine[6]
🏷️ Also known as
en holoprosencephaly 9
en HOLOPROSENCEPHALY 9; HPE9
en holoprosencephaly type 9
en holoprosencephaly with microphthalmia and first branchial arch anomalies
en HPE9
en pituitary anomalies with holoprosencephaly-like features
🔖 Identifiers · 6
- Disease Ontology ID
- DOID:0110873
- Exact match
- purl.obolibrary.org, identifiers.org, www.orpha.net
- Mondo ID
- MONDO_0012563
- UMLS CUI
- C1835819
- UniProt disease ID
- DI-00571
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