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 coordination (HP:0011443)

Parent Node:
Poor motor coordination (HP:0002275)

..Starting node
..Poor gross motor coordination (HP:0007015)

Term ID:

7015

Name:

Poor gross motor coordination

Synonym:

Gross motor impairment

Definition:

An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.

Comments:

Reference:

HP:0007015

Genes and Diseases:

Child Nodes:

Sister Nodes:

Poor fine motor coordination (HP:0007010)

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:0007015	HP:0007015	Poor gross motor coordination	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0007015	HP:0007015	Poor gross motor coordination	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0007015	HP:0007015	Poor gross motor coordination	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040282 - Frequent	145
HP:0007015	HP:0007015	Poor gross motor coordination	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0007015	HP:0007015	Poor gross motor coordination	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0007015	HP:0007015	Poor gross motor coordination	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0007015	HP:0007015	Poor gross motor coordination	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0007015	HP:0007015	Poor gross motor coordination	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0007015	HP:0007015	Poor gross motor coordination	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0007015	HP:0007015	Poor gross motor coordination	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0007015	HP:0007015	Poor gross motor coordination	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0007015	HP:0007015	Poor gross motor coordination	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0007015	HP:0007015	Poor gross motor coordination	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0007015	HP:0007015	Poor gross motor coordination	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0007015	HP:0007015	Poor gross motor coordination	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0007015	HP:0007015	Poor gross motor coordination	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0007015	HP:0007015	Poor gross motor coordination	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0007015	HP:0007015	Poor gross motor coordination	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0007015	HP:0007015	Poor gross motor coordination	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0007015	HP:0007015	Poor gross motor coordination	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0007015	HP:0007015	Poor gross motor coordination	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0007015	HP:0007015	Poor gross motor coordination	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.

Genes (22) :CAMTA1 CLN5 DCX FKRP FOXP2 GDAP1 GMPPB HERC2 IPW KCNQ2 LARGE1 MAGEL2 MKRN3 MKRN3-AS1 NPAP1 PDHX POMT1 POMT2 PWAR1 PWRN1 SNORD115-1 SNORD116-1

Diseases (9) :OMIM:614756 ORPHA:228360 ORPHA:2148 ORPHA:370968 ORPHA:209908 ORPHA:99948 OMIM:176270 ORPHA:439218 OMIM:245349

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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