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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Erythema (HP:0010783)

..Starting node
..Shawl sign (HP:0025535)

Term ID:

25535

Name:

Shawl sign

Synonym:

Definition:

Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.

Comments:

Reference:

HP:0025535

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythema migrans (HP:0031180)

Erythema of the eyelids (HP:0040323)

Facial erythema (HP:0001041)

Necrolytic migratory erythema (HP:0031181)

Palmoplantar erythema (HP:0025493)

V-sign (HP:0025536)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025535	HP:0025535	Shawl sign	0	CL E G H

Genes (0) :

Diseases (0) :

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