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 cardiovascular system physiology (HP:0011025)

Parent Node:
Shock (HP:0031273)

..Starting node
..Cardiogenic shock (HP:0030149)

Term ID:

30149

Name:

Cardiogenic shock

Synonym:

Cardiovascular shock

Definition:

Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.

Comments:

Reference:

HP:0030149

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distributive shock (HP:0031275)

Hypovolemic shock (HP:0031274)

Obstructive shock (HP:0031276)

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:0030149	HP:0030149	Cardiogenic shock	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0030149	HP:0030149	Cardiogenic shock	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0030149	HP:0030149	Cardiogenic shock	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0030149	HP:0030149	Cardiogenic shock	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0030149	HP:0030149	Cardiogenic shock	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0030149	HP:0030149	Cardiogenic shock	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0030149	HP:0030149	Cardiogenic shock	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030149	HP:0030149	Cardiogenic shock	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304

Genes (8) :ABCC6 ATRX DAXX LMOD2 MYL2 NAA10 RPL3L SDHA

Diseases (7) :OMIM:614473 ORPHA:100075 OMIM:619897 OMIM:619424 ORPHA:276432 OMIM:619371 OMIM:613642

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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