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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Skin rash (HP:0000988)

..Starting node
..Maculopapular exanthema (HP:0040186)

Term ID:

40186

Name:

Maculopapular exanthema

Synonym:

Definition:

A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.

Comments:

Reference:

HP:0040186

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bull's eye rash (HP:0040325)

Discoid lupus rash (HP:0007417)

Heliotrope rash (HP:0040324)

Malar rash (HP:0025300)

Morbilliform rash (HP:0012282)

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:0040186	HP:0040186	Maculopapular exanthema	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	150
HP:0040186	HP:0040186	Maculopapular exanthema	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0040186	HP:0040186	Maculopapular exanthema	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0040186	HP:0040186	Maculopapular exanthema	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0040186	HP:0040186	Maculopapular exanthema	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	51
HP:0040186	HP:0040186	Maculopapular exanthema	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0040186	HP:0040186	Maculopapular exanthema	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0040186	HP:0040186	Maculopapular exanthema	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0040186	HP:0040186	Maculopapular exanthema	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0040186	HP:0040186	Maculopapular exanthema	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0040186	HP:0040186	Maculopapular exanthema	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0040186	HP:0040186	Maculopapular exanthema	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	109
HP:0040186	HP:0040186	Maculopapular exanthema	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	228
HP:0040186	HP:0040186	Maculopapular exanthema	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	156
HP:0040186	HP:0040186	Maculopapular exanthema	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0040186	HP:0040186	Maculopapular exanthema	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0040186	HP:0040186	Maculopapular exanthema	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0040186	HP:0040186	Maculopapular exanthema	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0040186	HP:0040186	Maculopapular exanthema	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0040186	HP:0040186	Maculopapular exanthema	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0040186	HP:0040186	Maculopapular exanthema	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (21) :ANK1 ASXL1 BTNL2 CBL EPB42 HLA-DRB1 IKBKG KIT NLRP3 PRF1 RUNX1 SLC4A1 SPTA1 SPTB SRSF2 STX11 STXBP2 TET2 TNFRSF1A UNC13D ZNFX1

Diseases (9) :ORPHA:822 ORPHA:98850 ORPHA:797 OMIM:308300 ORPHA:79455 OMIM:191900 ORPHA:540 OMIM:142680 OMIM:619644

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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