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 bleeding (HP:0001892)

Grandparent Node:
Abnormality of blood circulation (HP:0011028)

Parent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Internal hemorrhage (HP:0011029)

..Starting node
..Muscle hemorrhage (HP:0040242)

Term ID:

40242

Name:

Muscle hemorrhage

Synonym:

Muscle haemorrhage

Definition:

Bleeding occuring within a muscle

Comments:

Reference:

HP:0040242

Genes and Diseases:

Child Nodes:

Sister Nodes:

Antepartum hemorrhage (HP:0025328)

Gastrointestinal hemorrhage (HP:0002239)

Hemorrhage of the eye (HP:0011885)

Intracranial hemorrhage (HP:0002170)

Joint hemorrhage (HP:0005261)

Pulmonary hemorrhage (HP:0040223)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040242	HP:0040242	Muscle hemorrhage	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	303

Genes (1) :F8

Diseases (1) :OMIM:306700

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