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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002333	HP:0002333	Motor deterioration	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0002333	HP:0002333	Motor deterioration	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0002333	HP:0002333	Motor deterioration	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0002333	HP:0002333	Motor deterioration	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0002333	HP:0002333	Motor deterioration	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0002333	HP:0002333	Motor deterioration	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0002333	HP:0002333	Motor deterioration	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0002333	HP:0002333	Motor deterioration	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0002333	HP:0002333	Motor deterioration	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0002333	HP:0002333	Motor deterioration	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional	641
HP:0002333	HP:0002333	Motor deterioration	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040282 - Frequent	4
HP:0002333	HP:0002333	Motor deterioration	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent	2
HP:0002333	HP:0002333	Motor deterioration	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0002333	HP:0002333	Motor deterioration	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0002333	HP:0002333	Motor deterioration	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0002333	HP:0002333	Motor deterioration	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0002333	HP:0002333	Motor deterioration	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0002333	HP:0002333	Motor deterioration	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0002333	HP:0002333	Motor deterioration	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040281 - Very frequent	103

Genes (18) :CLN5 CLN6 CLN8 FRRS1L GALC GRIN2A HGSNAT MECP2 NOTCH3 PAH PLEKHG4 PRKAR1B RBM28 SDHA SDHAF1 SDHB SDHD TK2

Diseases (15) :OMIM:256731 OMIM:601780 ORPHA:1947 ORPHA:725 OMIM:245200 OMIM:252930 OMIM:312750 ORPHA:136 ORPHA:79254 ORPHA:98765 ORPHA:412066 OMIM:612079 ORPHA:157954 ORPHA:3208 ORPHA:254875

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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