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:
Mental deterioration (HP:0001268)

Parent Node:
Progressive neurologic deterioration (HP:0002344)

..Starting node
..Progressive psychomotor deterioration (HP:0007272)

Term ID:

7272

Name:

Progressive psychomotor deterioration

Synonym:

Progressive mental and motor deterioration

Definition:

Comments:

Reference:

HP:0007272

Genes and Diseases:

Child Nodes:

Sister Nodes:

Progressive language deterioration (HP:0007064)

Rapid neurologic deterioration (HP:0007307)

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:0007272	HP:0007272	Progressive psychomotor deterioration	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent	106
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent	7
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0007272	HP:0007272	Progressive psychomotor deterioration	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129

Genes (12) :ARSA BSCL2 CYP27A1 GLB1 HEXB KCTD7 PMPCA PSAP SDHA SDHAF1 SDHB SDHD

Diseases (9) :ORPHA:309271 ORPHA:309263 ORPHA:363400 ORPHA:909 OMIM:230600 OMIM:268800 ORPHA:263516 ORPHA:1170 ORPHA:3208

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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