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:
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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003698	HP:0003698	Difficulty standing	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	352	816	300014
HP:0003698	HP:0003698	Difficulty standing	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0003698	HP:0003698	Difficulty standing	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0003698	HP:0003698	Difficulty standing	0	GRM1 CL E G H	2911	324262				ORPHA	1	298	4593	604473
HP:0003698	HP:0003698	Difficulty standing	0	KY CL E G H	339855	496689				ORPHA	1	113	26576	605739
HP:0003698	HP:0003698	Difficulty standing	0	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003698	HP:0003698	Difficulty standing	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0003698	HP:0003698	Difficulty standing	0	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0003698	HP:0003698	Difficulty standing	0	TFG CL E G H	10342	431329				ORPHA	1	373	11758	602498
HP:0003698	HP:0003698	Difficulty standing	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003698	HP:0003698	Difficulty standing	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (11) :ATP2B3 CYP27B1 CYP2R1 GRM1 KY MYOT SLC34A3 TBCE TFG TK2 VDR

Diseases (11) :302500 264700 600081 324262 496689 266 241530 496756 431329 254875 277440

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

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