Human Phenotype Ontology 
Grandparent Node:
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Cognitive impairment (HP:0100543)help
Parent Node:
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Mental deterioration (HP:0001268)help
..Starting node
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Psychomotor deterioration (HP:0002361)help
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: 
..expandDementia (HP:0000726) help
..expandMotor deterioration (HP:0002333) help
..expandProgressive neurologic deterioration (HP:0002344) help
..expandSocial and occupational deterioration (HP:0007086) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002361HP:0002361Psychomotor deterioration0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0002361HP:0002361Psychomotor deterioration0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0002361HP:0002361Psychomotor deterioration0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0002361HP:0002361Psychomotor deterioration0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0002361HP:0002361Psychomotor deterioration0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0002361HP:0002361Psychomotor deterioration0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0002361HP:0002361Psychomotor deterioration0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0002361HP:0002361Psychomotor deterioration0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0002361HP:0002361Psychomotor deterioration0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040281 - Very frequent133
HP:0002361HP:0002361Psychomotor deterioration0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002361HP:0002361Psychomotor deterioration0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0002361HP:0002361Psychomotor deterioration0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0002361HP:0002361Psychomotor deterioration0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0002361HP:0002361Psychomotor deterioration0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125


Genes (14) :ATP6V0A2 ATP6V1A ATP6V1E1 CLN3 COG2 GALC GALK1 KMT2A PLA2G6 PLP1 PPT1 PSAP RNASEH1 RRM2B

Diseases (10) :ORPHA:357074 OMIM:204200 ORPHA:435934 ORPHA:206436 ORPHA:79237 ORPHA:319182 ORPHA:35069 OMIM:312080 OMIM:256730 ORPHA:329336
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.