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:
Epidermal thickening (HP:0011368)

Parent Node:
Ichthyosis (HP:0008064)

..Starting node
..Generalized ichthyosis (HP:0007503)

Term ID:

7503

Name:

Generalized ichthyosis

Synonym:

Generalised ichthyosis

Definition:

Comments:

Reference:

HP:0007503

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital ichthyosiform erythroderma (HP:0007431)

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:0007503	HP:0007503	Generalized ichthyosis	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0007503	HP:0007503	Generalized ichthyosis	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0007503	HP:0007503	Generalized ichthyosis	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0007503	HP:0007503	Generalized ichthyosis	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0007503	HP:0007503	Generalized ichthyosis	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26

Genes (5) :LORICRIN NIPAL4 PHGDH PNPLA1 SLC27A4

Diseases (5) :ORPHA:79395 OMIM:612281 ORPHA:79351 OMIM:615024 OMIM:608649

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