Human Gene Set: HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION


Standard name HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION
Systematic name M43484
Brief description Vein of Galen aneurysmal malformation
Full description or abstract Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [https://orcid.org/0000-0002-0003-6754, PMID:32706613, PMID:33168212]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030713
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External links https://hpo.jax.org/app/browse/term/HP:0030713
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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