Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012233	HP:0012233	Intramuscular hematoma	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0012233	HP:0012233	Intramuscular hematoma	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0012233	HP:0012233	Intramuscular hematoma	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0012233	HP:0012233	Intramuscular hematoma	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0012233	HP:0012233	Intramuscular hematoma	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0012233	HP:0012233	Intramuscular hematoma	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0012233	HP:0012233	Intramuscular hematoma	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040282 - Frequent	303
HP:0012233	HP:0012233	Intramuscular hematoma	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0012233	HP:0012233	Intramuscular hematoma	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare	39
HP:0012233	HP:0012233	Intramuscular hematoma	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040282 - Frequent	8

Genes (8) :F10 F13A1 F13B F2 F7 F8 SERPINE1 SERPINF2

Diseases (9) :ORPHA:328 OMIM:227600 ORPHA:331 ORPHA:325 OMIM:227500 ORPHA:169805 ORPHA:169802 ORPHA:465 ORPHA:79

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen