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:
Cognitive impairment (HP:0100543)

Parent Node:
Mental deterioration (HP:0001268)

..Starting node
..Motor deterioration (HP:0002333)

Term ID:

2333

Name:

Motor deterioration

Synonym:

Progressive degeneration of movement

Definition:

Loss of previously present motor (i.e., movement) abilities.

Comments:

Reference:

HP:0002333

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dementia (HP:0000726)

Progressive neurologic deterioration (HP:0002344)

Psychomotor deterioration (HP:0002361)

Social and occupational deterioration (HP:0007086)

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:0002333	HP:0002333	Motor deterioration	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	702	2076	608102
HP:0002333	HP:0002333	Motor deterioration	0	CLN6 CL E G H	54982	601780	Ceroid lipofuscinosis neuronal 6	601780	C1866282	OMIM	1	661	2077	606725
HP:0002333	HP:0002333	Motor deterioration	0	GALC CL E G H	2581	245200	Galactosylceramide beta-galactosidase deficiency	245200	C0023521	OMIM	1	1185	4115	606890
HP:0002333	HP:0002333	Motor deterioration	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	1049	26527	610453
HP:0002333	HP:0002333	Motor deterioration	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1925	6990	300005
HP:0002333	HP:0002333	Motor deterioration	0	PLEKHG4 CL E G H	25894	98765				ORPHA	1	97	24501	609526
HP:0002333	HP:0002333	Motor deterioration	0	PRKAR1B CL E G H	5575	412066				ORPHA	1	245	9390	176911
HP:0002333	HP:0002333	Motor deterioration	0	RBM28 CL E G H	55131	612079	Alopecia, neurologic defects, and endocrinopathy syndrome	612079	C2677535	OMIM	1	81	21863	612074
HP:0002333	HP:0002333	Motor deterioration	0	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0002333	HP:0002333	Motor deterioration	0	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0002333	HP:0002333	Motor deterioration	0	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0002333	HP:0002333	Motor deterioration	0	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0002333	HP:0002333	Motor deterioration	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002333	HP:0002333	Motor deterioration	0	PAH CL E G H	5053	79254				ORPHA	0	1446	8582	612349

Genes (14) :CLN5 CLN6 GALC HGSNAT MECP2 PAH PLEKHG4 PRKAR1B RBM28 SDHA SDHAF1 SDHB SDHD TK2

Diseases (11) :256731 601780 245200 252930 312750 79254 98765 412066 612079 3208 254875

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

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