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:
Cognitive impairment (HP:0100543)

Parent Node:
Mental deterioration (HP:0001268)

..Starting node
..Psychomotor deterioration (HP:0002361)

Term ID:

2361

Name:

Psychomotor deterioration

Synonym:

Psychomotor degeneration

Definition:

Loss of previously present mental and motor abilities.

Comments:

Reference:

HP:0002361

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dementia (HP:0000726)

Motor deterioration (HP:0002333)

Progressive neurologic deterioration (HP:0002344)

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:0002361	HP:0002361	Psychomotor deterioration	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	610	18481	611716
HP:0002361	HP:0002361	Psychomotor deterioration	0	ATP6V1A CL E G H	523	357074				ORPHA	1	229	851	607027
HP:0002361	HP:0002361	Psychomotor deterioration	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	196	857	108746
HP:0002361	HP:0002361	Psychomotor deterioration	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	1015	2074	607042
HP:0002361	HP:0002361	Psychomotor deterioration	0	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	1002	4878	606869
HP:0002361	HP:0002361	Psychomotor deterioration	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	451	9086	300401
HP:0002361	HP:0002361	Psychomotor deterioration	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002361	HP:0002361	Psychomotor deterioration	0	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0002361	HP:0002361	Psychomotor deterioration	0	RNASEH1 CL E G H	246243	329336				ORPHA	0	189	18466	604123
HP:0002361	HP:0002361	Psychomotor deterioration	0	RRM2B CL E G H	50484	329336				ORPHA	0	354	17296	604712
HP:0002361	HP:0002361	Psychomotor deterioration	0	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040

Genes (11) :ATP6V0A2 ATP6V1A ATP6V1E1 CLN3 HEXA KMT2A PLP1 PPT1 RNASEH1 RRM2B SMC1A

Diseases (7) :357074 204200 272800 319182 312080 256730 329336

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