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 the musculature (HP:0003011)

Parent Node:
Abnormal skeletal muscle morphology (HP:0011805)

..Starting node
..Intramuscular hematoma (HP:0012233)

Term ID:

12233

Name:

Intramuscular hematoma

Synonym:

IM hematoma; Intramuscular haematoma; Intramuscular haemorrhage; Intramuscular hematomas; Intramuscular hemorrhage

Definition:

Blood clot formed within muscle tissue following leakage of blood into the tissue.

Comments:

Reference:

HP:0012233

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal muscle fiber morphology (HP:0004303)

Abnormality of muscle size (HP:0030236)

Calcinosis (HP:0003761)

Decreased muscle mass (HP:0003199)

Fatty replacement of skeletal muscle (HP:0012548)

Firm muscles (HP:0003725)

Flexion contracture (HP:0001371)

Generalized muscular appearance from birth (HP:0003716)

Levator palpebrae superioris atrophy (HP:0012241)

Muscular dystrophy (HP:0003560)

Muscular edema (HP:0100748)

Myopathy (HP:0003198)

Myositis (HP:0100614)

Rhabdomyolysis (HP:0003201)

Skeletal muscle fibrosis (HP:0030951)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012233	HP:0012233	Intramuscular hematoma	0	F10 CL E G H	2159	227600	Factor X deficiency	227600	C0015519	OMIM	1	245	3528	613872
HP:0012233	HP:0012233	Intramuscular hematoma	0	F7 CL E G H	2155	227500	Factor VII deficiency	227500	C0015503	OMIM	1	343	3544	613878
HP:0012233	HP:0012233	Intramuscular hematoma	0	SERPINF2 CL E G H	5345	79				ORPHA	1	136	9075	613168
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (3) :F10 F7 SERPINF2

Diseases (3) :227600 227500 79

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.