Human Gene Set: HP_MITTEN_DEFORMITY


Standard name HP_MITTEN_DEFORMITY
Systematic name M36436
Brief description Mitten deformity
Full description or abstract Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \mitten\ hand deformity. [https://orcid.org/0000-0002-0736-9199, PMID:20301304]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0004057
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0004057
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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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