Human Phenotype Ontology 
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..expandHand apraxia (HP:0032588)help
Term ID: 32588
Name: Hand apraxia
Synonym: Lack of purposeful hand use
Definition: Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.
Comments:
Reference: HP:0032588
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032588HP:0032588Hand apraxia0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0032588HP:0032588Hand apraxia0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0032588HP:0032588Hand apraxia0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0032588HP:0032588Hand apraxia0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0032588HP:0032588Hand apraxia0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0032588HP:0032588Hand apraxia0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135


Genes (6) :CDKL5 GABBR2 MECP2 NTNG1 PLP1 SMC1A

Diseases (2) :ORPHA:3095 ORPHA:280229
 

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