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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Immunologic hypersensitivity (HP:0100326)

..Starting node
..Anaphylactic shock (HP:0100845)

Term ID:

100845

Name:

Anaphylactic shock

Synonym:

Anaphylaxis

Definition:

An acute hypersensitivity reaction due to exposure to a previously encountered antigen.

Comments:

Reference:

HP:0100845

Genes and Diseases:

Child Nodes:

........

Exercise induced anaphylaxis (HP:0410139)

........

Idiopathic anaphylaxis (HP:0410148)

........

Drug-induced anaphylaxis (HP:0410149)

........

Food-induced anaphylaxis (HP:0500095)

........

Venom-induced anaphylaxis (HP:0500096)

Sister Nodes:

Allergy (HP:0012393)

Asthma (HP:0002099)

Celiac disease (HP:0002608)

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:0100845	HP:0100845	Anaphylactic shock	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0100845	HP:0100845	Anaphylactic shock	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0100845	HP:0100845	Anaphylactic shock	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0100845	HP:0100845	Anaphylactic shock	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0100845	HP:0100845	Anaphylactic shock	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0100845	HP:0100845	Anaphylactic shock	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0100845	HP:0500096	Venom-induced anaphylaxis	1	CL E G H
HP:0100845	HP:0500095	Food-induced anaphylaxis	1	CL E G H
HP:0100845	HP:0410149	Drug-induced anaphylaxis	1	CL E G H
HP:0100845	HP:0410148	Idiopathic anaphylaxis	1	CL E G H
HP:0100845	HP:0410139	Exercise induced anaphylaxis	1	CL E G H

Genes (6) :ASXL1 CBL KIT RUNX1 SRSF2 TET2

Diseases (2) :ORPHA:98850 ORPHA:79455

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