Human Gene Set: HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA


Standard name HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA
Systematic name M37086
Brief description Congenital nonbullous ichthyosiform erythroderma
Full description or abstract The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. [https://orcid.org/0009-0006-4530-3154]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0007479
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External links https://hpo.jax.org/app/browse/term/HP:0007479
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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
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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