Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Ichthyosis (HP:0008064)

Parent Node:
Congenital ichthyosiform erythroderma (HP:0007431)

..Starting node
..Congenital bullous ichthyosiform erythroderma (HP:0007475)

Term ID:

7475

Name:

Congenital bullous ichthyosiform erythroderma

Synonym:

Bullous congenital ichthyosiform erythroderma; Epidermolytic hyperkeratosis

Definition:

An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.

Comments:

Reference:

HP:0007475

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital nonbullous ichthyosiform erythroderma (HP:0007479)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	100
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	45
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0007475	HP:0007475	Congenital bullous ichthyosiform erythroderma	0	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type	.	67

Genes (3) :KRT1 KRT10 KRT2

Diseases (4) :ORPHA:312 OMIM:113800 OMIM:607602 OMIM:146800

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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