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:
Abnormal epidermal morphology (HP:0011124)

Parent Node:
Scaling skin (HP:0040189)

..Starting node
..White scaling skin (HP:0040190)

Term ID:

40190

Name:

White scaling skin

Synonym:

White scaling skin; White scaly skin

Definition:

Comments:

Reference:

HP:0040190

Genes and Diseases:

Child Nodes:

Sister Nodes:

Palmoplantar scaling skin (HP:0025524)

Psoriasiform lesion (HP:0025526)

Scaling skin on fingertip (HP:0025525)

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:0040190	HP:0040190	White scaling skin	0	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0040190	HP:0040190	White scaling skin	0	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3	.	1
HP:0040190	HP:0040190	White scaling skin	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54

Genes (3) :CASP14 CHST8 CYP4F22

Diseases (3) :OMIM:617320 OMIM:616265 OMIM:604777

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