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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Dermatological manifestations of systemic disorders (HP:0001005)

..Starting node
..Warfarin-induced skin necrosis (HP:0001038)

Term ID:

1038

Name:

Warfarin-induced skin necrosis

Synonym:

Definition:

Comments:

Reference:

HP:0001038

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyanosis (HP:0000961)

Jaundice (HP:0000952)

Plethora (HP:0001050)

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:0001038	HP:0001038	Warfarin-induced skin necrosis	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040283 - Occasional	65
HP:0001038	HP:0001038	Warfarin-induced skin necrosis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001038	HP:0001038	Warfarin-induced skin necrosis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75

Genes (2) :PROC PROS1

Diseases (3) :ORPHA:745 OMIM:176860 OMIM:612336

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