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 physiology (HP:0011804)

Parent Node:
Functional motor deficit (HP:0004302)

..Starting node
..Difficulty standing (HP:0003698)

Term ID:

3698

Name:

Difficulty standing

Synonym:

Difficulty in standing; Standing instability

Definition:

Comments:

Reference:

HP:0003698

Genes and Diseases:

Child Nodes:

Sister Nodes:

Difficulty climbing stairs (HP:0003551)

Difficulty running (HP:0009046)

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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003698	HP:0003698	Difficulty standing	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0003698	HP:0003698	Difficulty standing	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0003698	HP:0003698	Difficulty standing	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0003698	HP:0003698	Difficulty standing	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003698	HP:0003698	Difficulty standing	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003698	HP:0003698	Difficulty standing	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003698	HP:0003698	Difficulty standing	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003698	HP:0003698	Difficulty standing	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0003698	HP:0003698	Difficulty standing	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0003698	HP:0003698	Difficulty standing	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0003698	HP:0003698	Difficulty standing	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040281 - Very frequent	8
HP:0003698	HP:0003698	Difficulty standing	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0003698	HP:0003698	Difficulty standing	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003698	HP:0003698	Difficulty standing	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003698	HP:0003698	Difficulty standing	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0003698	HP:0003698	Difficulty standing	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent	52
HP:0003698	HP:0003698	Difficulty standing	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040280 - Obligate	18
HP:0003698	HP:0003698	Difficulty standing	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18
HP:0003698	HP:0003698	Difficulty standing	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0003698	HP:0003698	Difficulty standing	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003698	HP:0003698	Difficulty standing	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0003698	HP:0003698	Difficulty standing	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2

Genes (21) :ABCC8 ATP2B3 CLN8 CYP27B1 CYP2R1 DYM DYSF FAR1 GPAA1 GRIN2A GRM1 KY MYOT SLC34A3 SMS TBCE TFG TK2 TRMT5 VDR WARS2

Diseases (22) :OMIM:618857 OMIM:302500 ORPHA:1947 OMIM:264700 OMIM:600081 ORPHA:239 ORPHA:45448 ORPHA:438178 ORPHA:529665 ORPHA:98818 ORPHA:324262 ORPHA:496689 ORPHA:266 OMIM:241530 ORPHA:3063 ORPHA:496756 ORPHA:431329 ORPHA:90117 ORPHA:254875 OMIM:616539 OMIM:277440 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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