Human Phenotype Ontology

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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 tone (HP:0003808)

Parent Node:
Hypotonia (HP:0001252)

..Starting node
..Infantile muscular hypotonia (HP:0008947)

Term ID:

8947

Name:

Infantile muscular hypotonia

Synonym:

Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia

Definition:

Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.

Comments:

Reference:

HP:0008947

Genes and Diseases:

Child Nodes:

........

Infantile axial hypotonia (HP:0009062)

Sister Nodes:

Appendicular hypotonia (HP:0012389)

Facial hypotonia (HP:0000297)

Frog-leg posture (HP:0031139)

Generalized hypotonia (HP:0001290)

Muscular hypotonia of the trunk (HP:0008936)

Neonatal hypotonia (HP:0001319)

Oral motor hypotonia (HP:0030190)

Severe muscular hypotonia (HP:0006829)

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:0008947	HP:0008947	Infantile muscular hypotonia	0	ADAR CL E G H	103	225154				ORPHA	1	1122	225	146920
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	610	18481	611716
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	610	18481	611716
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATP6V1A CL E G H	523	357074				ORPHA	1	229	851	607027
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	196	857	108746
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2909	2209	120215
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	100	25613	616120
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ERMARD CL E G H	55780	75857				ORPHA	1	303	21056	615532
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	FGFR3 CL E G H	2261	100800	Achondroplasia	100800	C0001080	OMIM	1	916	3690	134934
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	588	4136	601240
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	LRP5 CL E G H	4041	2788				ORPHA	1	1819	6697	603506
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	NUP62 CL E G H	23636	225154				ORPHA	1	161	8066	605815
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	497	8855	601789
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	SON CL E G H	6651	500150				ORPHA	1	1031	11183	182465
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	353	11460	606887
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	TBC1D24 CL E G H	57465	79500				ORPHA	1	893	29203	613577
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	542	12340	604386
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	UGT1A1 CL E G H	54658	79234				ORPHA	1	315	12530	191740
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ADAR CL E G H	103	225154				ORPHA	1	1122	225	146920
HP:0008947	HP:0009062	Infantile axial hypotonia	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	610	18481	611716
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	610	18481	611716
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATP6V1A CL E G H	523	357074				ORPHA	1	229	851	607027
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATP6V1E1 CL E G H	529	357074				ORPHA	1	196	857	108746
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0008947	HP:0009062	Infantile axial hypotonia	1	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2909	2209	120215
HP:0008947	HP:0009062	Infantile axial hypotonia	1	CWF19L1 CL E G H	55280	453521				ORPHA	1	100	25613	616120
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ERMARD CL E G H	55780	75857				ORPHA	1	303	21056	615532
HP:0008947	HP:0009062	Infantile axial hypotonia	1	FGFR3 CL E G H	2261	100800	Achondroplasia	100800	C0001080	OMIM	1	916	3690	134934
HP:0008947	HP:0009062	Infantile axial hypotonia	1	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	588	4136	601240
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0008947	HP:0009062	Infantile axial hypotonia	1	LRP5 CL E G H	4041	2788				ORPHA	1	1819	6697	603506
HP:0008947	HP:0009062	Infantile axial hypotonia	1	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0008947	HP:0009062	Infantile axial hypotonia	1	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0008947	HP:0009062	Infantile axial hypotonia	1	NUP62 CL E G H	23636	225154				ORPHA	1	161	8066	605815
HP:0008947	HP:0009062	Infantile axial hypotonia	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	497	8855	601789
HP:0008947	HP:0009062	Infantile axial hypotonia	1	SON CL E G H	6651	500150				ORPHA	1	1031	11183	182465
HP:0008947	HP:0009062	Infantile axial hypotonia	1	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	353	11460	606887
HP:0008947	HP:0009062	Infantile axial hypotonia	1	TBC1D24 CL E G H	57465	79500				ORPHA	1	893	29203	613577
HP:0008947	HP:0009062	Infantile axial hypotonia	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	542	12340	604386
HP:0008947	HP:0009062	Infantile axial hypotonia	1	UGT1A1 CL E G H	54658	79234				ORPHA	1	315	12530	191740
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	GNB1 CL E G H	2782	488613				ORPHA	0	382	4396	139380
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	0	679	7744	604588
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138
HP:0008947	HP:0008947	Infantile muscular hypotonia	0	TRAPPC11 CL E G H	60684	369847				ORPHA	0	983	25751	614138
HP:0008947	HP:0009062	Infantile axial hypotonia	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0008947	HP:0009062	Infantile axial hypotonia	1	GNB1 CL E G H	2782	488613				ORPHA	0	382	4396	139380
HP:0008947	HP:0009062	Infantile axial hypotonia	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0008947	HP:0009062	Infantile axial hypotonia	1	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	0	679	7744	604588
HP:0008947	HP:0009062	Infantile axial hypotonia	1	TRAPPC11 CL E G H	60684	369847				ORPHA	0	983	25751	614138
HP:0008947	HP:0009062	Infantile axial hypotonia	1	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138

Genes (34) :ADAR AHCY ATP6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX COL5A1 CWF19L1 ERMARD FGFR3 GAMT GFER GM2A GNB1 ITGA7 KCNH1 LRP5 MECP2 MT-ATP6 NEK1 NUP62 PEX13 RARS RNU12 RYR1 SON SUOX TBC1D24 TRAPPC11 TRPS1 TUBB3 UGT1A1

Diseases (31) :225154 88618 2834 357074 3473 301040 309580 130000 453521 75857 100800 612736 488613 613204 2788 300260 2751 614883 500150 272300 79500 369840 369847 190350 79234 330054 309246 438114 512260 424107 300570

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

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