Human Gene Set: HP_APLASIA_CUTIS_CONGENITA


Standard name HP_APLASIA_CUTIS_CONGENITA
Systematic name M35102
Brief description Aplasia cutis congenita
Full description or abstract A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001057
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001057
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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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