Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Epidermal thickening (HP:0011368)

Parent Node:
Ichthyosis (HP:0008064)

..Starting node
..Congenital ichthyosiform erythroderma (HP:0007431)

Term ID:

7431

Name:

Congenital ichthyosiform erythroderma

Synonym:

Congenital ichthyosis; Ichthyosis, congenital

Definition:

An ichthyosiform abnormality of the skin with congenital onset.

Comments:

Reference:

HP:0007431

Genes and Diseases:

Child Nodes:

........

Congenital bullous ichthyosiform erythroderma (HP:0007475)

........

Congenital nonbullous ichthyosiform erythroderma (HP:0007479)

Sister Nodes:

Generalized ichthyosis (HP:0007503)

Ichthyosis follicularis (HP:0031291)

Localized epidermolytic hyperkeratosis (HP:0007559)

Postnatal-onset ichthyosiform erythroderma (HP:0007395)

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:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent	130
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A	.	130
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant		1
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9	.	5
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type		67
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10	.	47
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.	4
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked	.	19
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0007431	HP:0007431	Congenital ichthyosiform erythroderma	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040281 - Very frequent	90
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	.	63
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant	.	1
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	.	54
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.	54
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.	3
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	100
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	45
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0007431	HP:0007475	Congenital bullous ichthyosiform erythroderma	1	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type	.	67
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040281 - Very frequent
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040282 - Frequent	98
HP:0007431	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98

Genes (29) :ABCA12 ABHD5 ALOX12B ALOXE3 ASPRV1 CERS3 CYP4F22 EBP ERCC2 ERCC3 GBA1 GJB2 GJB6 GTF2H5 KDSR KRT1 KRT10 KRT2 LORICRIN NIPAL4 NSDHL PNPLA1 POMP SPINK5 ST14 STS SULT2B1 TARS1 TGM1

Diseases (36) :ORPHA:457 OMIM:601277 OMIM:242500 OMIM:275630 ORPHA:98907 OMIM:242100 OMIM:606545 OMIM:146750 OMIM:615023 OMIM:604777 OMIM:302960 OMIM:601675 OMIM:616390 ORPHA:85212 OMIM:608013 ORPHA:477 OMIM:616395 OMIM:617526 ORPHA:312 OMIM:113800 OMIM:609165 OMIM:607602 OMIM:146800 ORPHA:79395 OMIM:612281 OMIM:308050 OMIM:615024 OMIM:601952 ORPHA:634 OMIM:256500 OMIM:602400 OMIM:308100 OMIM:617571 OMIM:618546 ORPHA:100976 OMIM:242300

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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