Human Gene Set: HP_FETAL_AKINESIA_SEQUENCE


Standard name HP_FETAL_AKINESIA_SEQUENCE
Systematic name M35568
Brief description Fetal akinesia sequence
Full description or abstract Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001989
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001989
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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
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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