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:
Abnormal cardiovascular system physiology (HP:0011025)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormal vascular physiology (HP:0030163)

..Starting node
..Abnormal capillary physiology (HP:0025018)

Term ID:

25018

Name:

Abnormal capillary physiology

Synonym:

Definition:

A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.

Comments:

Reference:

HP:0025018

Genes and Diseases:

Child Nodes:

........

Capillary fragility (HP:0025017)

........

Capillary leak (HP:0030005)

Sister Nodes:

Abnormal arterial physiology (HP:0025323)

Abnormal pulse pressure (HP:0030850)

Abnormality of pulmonary circulation (HP:0030875)

Abnormality of venous physiology (HP:0030846)

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:0025018	HP:0025018	Abnormal capillary physiology	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0025018	HP:0025018	Abnormal capillary physiology	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0025018	HP:0025018	Abnormal capillary physiology	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0025018	HP:0025018	Abnormal capillary physiology	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0025018	HP:0025018	Abnormal capillary physiology	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0025018	HP:0025018	Abnormal capillary physiology	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0025018	HP:0025018	Abnormal capillary physiology	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0025018	HP:0025018	Abnormal capillary physiology	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0025018	HP:0025018	Abnormal capillary physiology	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0025018	HP:0025017	Capillary fragility	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0025018	HP:0025017	Capillary fragility	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0025018	HP:0025017	Capillary fragility	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0025018	HP:0030005	Capillary leak	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0025018	HP:0025017	Capillary fragility	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0025018	HP:0025017	Capillary fragility	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0025018	HP:0025017	Capillary fragility	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0025018	HP:0025017	Capillary fragility	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7

Genes (9) :ATRX BRAF CDH23 FSHR NR3C1 TP53 USP48 USP8 XPNPEP2

Diseases (3) :ORPHA:96253 ORPHA:64739 ORPHA:100057

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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