Human Gene Set: HP_ECTRODACTYLY


Standard name HP_ECTRODACTYLY
Systematic name M38671
Brief description Ectrodactyly
Full description or abstract A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. [https://orcid.org/0009-0006-4530-3154]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0100257
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0100257
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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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