Human Phenotype Ontology 
Grandparent Node:
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Ichthyosis (HP:0008064)help
Parent Node:
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Congenital ichthyosiform erythroderma (HP:0007431)help
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Congenital nonbullous ichthyosiform erythroderma (HP:0007479)help
Term ID: 7479
Name: Congenital nonbullous ichthyosiform erythroderma
Synonym: Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Nonbullous congenital ichthyosiform erythroderma; Nonbullous congenital ichthyosis
Definition: 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.
Comments:
Reference: HP:0007479
Genes and Diseases:
 
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..expandCongenital bullous ichthyosiform erythroderma (HP:0007475) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM120913743607206
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM120213743607206
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM119126820611495
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM118626820611495
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM12833435133510
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM11863435133510
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA CL E G H262985212ORPHA12694177606463
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA CL E G H262985212ORPHA12614177606463
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM16121157608780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM14421157608780
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0LOR CL E G H401479395ORPHA16663152445
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM115128018609383
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM114728018609383
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0POMP CL E G H51371601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma601952C1866029OMIM17120330613386
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0POMP CL E G H51371601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma601952C1866029OMIM14920330613386
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA172815464605010
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA163015464605010
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM172815464605010
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM163015464605010
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM02694177606463
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM02614177606463


Genes (12) :ABHD5 ALOX12B ALOXE3 CYP4F22 ERCC2 ERCC3 GBA GTF2H5 LOR NIPAL4 POMP SPINK5

Diseases (15) :98907 275630 242100 606545 604777 601675 616390 85212 608013 616395 79395 612281 601952 634 256500
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.