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:
Abnormal muscle physiology (HP:0011804)

Parent Node:
Functional motor deficit (HP:0004302)

..Starting node
..Difficulty running (HP:0009046)

Term ID:

9046

Name:

Difficulty running

Synonym:

Difficulty running

Definition:

Reduced ability to run.

Comments:

Reference:

HP:0009046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Difficulty climbing stairs (HP:0003551)

Difficulty standing (HP:0003698)

Difficulty walking (HP:0002355)

Easy fatigability (HP:0003388)

Exercise intolerance (HP:0003546)

Frequent falls (HP:0002359)

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:0009046	HP:0009046	Difficulty running	0	ANO5 CL E G H	203859	399096				ORPHA	1	1162	27337	608662
HP:0009046	HP:0009046	Difficulty running	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0009046	HP:0009046	Difficulty running	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	740	17208	609797
HP:0009046	HP:0009046	Difficulty running	0	BIN1 CL E G H	274	169186				ORPHA	1	656	1052	601248
HP:0009046	HP:0009046	Difficulty running	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0009046	HP:0009046	Difficulty running	0	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	3787	2961	600112
HP:0009046	HP:0009046	Difficulty running	0	DYNC1H1 CL E G H	1778	158600	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	158600	C1834690	OMIM	1	3787	2961	600112
HP:0009046	HP:0009046	Difficulty running	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0009046	HP:0009046	Difficulty running	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	1	580	28844	608533
HP:0009046	HP:0009046	Difficulty running	0	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0009046	HP:0009046	Difficulty running	0	KCNC3 CL E G H	3748	98768				ORPHA	1	311	6235	176264
HP:0009046	HP:0009046	Difficulty running	0	KY CL E G H	339855	496689				ORPHA	1	113	26576	605739
HP:0009046	HP:0009046	Difficulty running	0	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0009046	HP:0009046	Difficulty running	0	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	969	29634	612453
HP:0009046	HP:0009046	Difficulty running	0	MFN2 CL E G H	9927	99947				ORPHA	1	1222	16877	608507
HP:0009046	HP:0009046	Difficulty running	0	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0009046	HP:0009046	Difficulty running	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	1	265	1530	605084
HP:0009046	HP:0009046	Difficulty running	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	1		7479	590025
HP:0009046	HP:0009046	Difficulty running	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0009046	HP:0009046	Difficulty running	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0009046	HP:0009046	Difficulty running	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0009046	HP:0009046	Difficulty running	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	582	26162	617220
HP:0009046	HP:0009046	Difficulty running	0	REEP1 CL E G H	65055	101011				ORPHA	1	434	25786	609139
HP:0009046	HP:0009046	Difficulty running	0	RYR1 CL E G H	6261	178145				ORPHA	1	6164	10483	180901
HP:0009046	HP:0009046	Difficulty running	0	RYR1 CL E G H	6261	169186				ORPHA	1	6164	10483	180901
HP:0009046	HP:0009046	Difficulty running	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0009046	HP:0009046	Difficulty running	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	549	10809	608896
HP:0009046	HP:0009046	Difficulty running	0	SPEG CL E G H	10290	169186				ORPHA	1	1482	16901	615950
HP:0009046	HP:0009046	Difficulty running	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0009046	HP:0009046	Difficulty running	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0009046	HP:0009046	Difficulty running	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0009046	HP:0009046	Difficulty running	0	TTN CL E G H	7273	169186				ORPHA	1	27503	12403	188840
HP:0009046	HP:0009046	Difficulty running	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009046	HP:0009046	Difficulty running	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0009046	HP:0009046	Difficulty running	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0009046	HP:0009046	Difficulty running	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0009046	HP:0009046	Difficulty running	0	FKRP CL E G H	79147	34515				ORPHA	0	950	17997	606596
HP:0009046	HP:0009046	Difficulty running	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0009046	HP:0009046	Difficulty running	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0009046	HP:0009046	Difficulty running	0	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0009046	HP:0009046	Difficulty running	0	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0009046	HP:0009046	Difficulty running	0	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0009046	HP:0009046	Difficulty running	0	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030

Genes (37) :ALG14 ALG2 ANO5 BICD2 BIN1 COL12A1 DPAGT1 DYNC1H1 DYSF FBXO38 FKRP GFPT1 GMPPB KBTBD13 KCNC3 KY LMNA MEGF10 MFN2 MICU1 MT-TE MYPN PEX2 PNPLA2 PYROXD1 REEP1 RYR1 SGCG SPEG STIM1 TCAP TNPO3 TPM2 TPM3 TRNE TTN VMA21

Diseases (34) :353327 399096 613319 615290 169186 616471 614228 158600 253601 615575 34515 609273 98768 496689 264 614399 99947 401768 615673 171881 614867 98908 610717 617258 101011 98905 178145 255320 353 160565 601954 608423 2596 310440

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

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