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:
Hypotonia (HP:0001252)

Parent Node:
Axial hypotonia (HP:0008936)

Parent Node:
Infantile muscular hypotonia (HP:0008947)

..Starting node
..Infantile axial hypotonia (HP:0009062)

Term ID:

9062

Name:

Infantile axial hypotonia

Synonym:

Hypotonia, axial, in infancy

Definition:

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.

Comments:

Reference:

HP:0009062

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009062	HP:0009062	Infantile axial hypotonia	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0009062	HP:0009062	Infantile axial hypotonia	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0009062	HP:0009062	Infantile axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0009062	HP:0009062	Infantile axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0009062	HP:0009062	Infantile axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0009062	HP:0009062	Infantile axial hypotonia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0009062	HP:0009062	Infantile axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0009062	HP:0009062	Infantile axial hypotonia	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0009062	HP:0009062	Infantile axial hypotonia	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0009062	HP:0009062	Infantile axial hypotonia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0009062	HP:0009062	Infantile axial hypotonia	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0009062	HP:0009062	Infantile axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0009062	HP:0009062	Infantile axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0009062	HP:0009062	Infantile axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0009062	HP:0009062	Infantile axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0009062	HP:0009062	Infantile axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0009062	HP:0009062	Infantile axial hypotonia	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0009062	HP:0009062	Infantile axial hypotonia	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0009062	HP:0009062	Infantile axial hypotonia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0009062	HP:0009062	Infantile axial hypotonia	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0009062	HP:0009062	Infantile axial hypotonia	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0009062	HP:0009062	Infantile axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0009062	HP:0009062	Infantile axial hypotonia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0009062	HP:0009062	Infantile axial hypotonia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0009062	HP:0009062	Infantile axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0009062	HP:0009062	Infantile axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0009062	HP:0009062	Infantile axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0009062	HP:0009062	Infantile axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34

Genes (48) :B4GALT1 CAMK2A CDON DISP1 DLL1 DPAGT1 EXTL3 FGF8 FGFR1 FOXH1 GALC GAS1 GFER GFM2 GLI2 GM2A GNB1 GRIN2A HEXB MAN2B1 MFF NODAL PAX7 PLCH1 PRUNE1 PSAP PSAT1 PTCH1 RARS1 RNU12 RTTN RYR1 SEPSECS SHH SIX3 SLC39A14 SMC1A STAG2 STIL TDGF1 TGIF1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB3 WARS2 ZIC2

Diseases (28) :ORPHA:79332 OMIM:617798 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:86309 ORPHA:508533 ORPHA:206436 ORPHA:330054 ORPHA:565624 ORPHA:309246 OMIM:616973 ORPHA:289266 ORPHA:309155 ORPHA:309282 ORPHA:485421 OMIM:618578 ORPHA:544469 ORPHA:284417 ORPHA:438114 ORPHA:512260 ORPHA:468631 ORPHA:424107 ORPHA:2524 ORPHA:521406 ORPHA:300570 ORPHA:572798

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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