Human Gene Set: HP_DISTAL_ARTHROGRYPOSIS


Standard name HP_DISTAL_ARTHROGRYPOSIS
Systematic name M36755
Brief description Distal arthrogryposis
Full description or abstract An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. [https://orcid.org/0000-0002-0736-9199, PMID:8923935]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0005684
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0005684
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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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GTEx compendium
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Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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