Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Neurodevelopmental abnormality (HP:0012759)help
..Starting node
..expand
Neurodevelopmental delay (HP:0012758)help
Term ID: 12758
Name: Neurodevelopmental delay
Synonym:
Definition:
Comments:
Reference: HP:0012758
Genes and Diseases:
 
       Child Nodes:
........expandDelayed speech and language development (HP:0000750) help
................... HP:0001344 Absent speech
................... HP:0002474 Expressive language delay
................... HP:0010863 Receptive language delay
........expandGlobal developmental delay (HP:0001263) help
................... HP:0011342 Mild global developmental delay
................... HP:0011343 Moderate global developmental delay
................... HP:0011344 Severe global developmental delay
................... HP:0012736 Profound global developmental delay
........expandMotor delay (HP:0001270) help
................... HP:0002194 Delayed gross motor development
................... HP:0010862 Delayed fine motor development
........expandDelayed social development (HP:0012434) help

 Sister Nodes: 
..expandDevelopmental regression (HP:0002376) help
..expandDevelopmental stagnation (HP:0007281) help
..expandIntellectual disability (HP:0001249) help
..expandSpecific learning disability (HP:0001328) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012758HP:0012758Neurodevelopmental delay0DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0012758Neurodevelopmental delay0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0012758Neurodevelopmental delay0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0012758Neurodevelopmental delay0GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0012758Neurodevelopmental delay0GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0012758Neurodevelopmental delay0PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0012758Neurodevelopmental delay0SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0012758Neurodevelopmental delay0SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0012758Neurodevelopmental delay0SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0012758Neurodevelopmental delay0SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0012758Neurodevelopmental delay0STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0001270Motor delay1DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0000750Delayed speech and language development1DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0001263Global developmental delay1DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0012434Delayed social development1DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0000750Delayed speech and language development1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0001270Motor delay1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0001263Global developmental delay1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0012434Delayed social development1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0001270Motor delay1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0000750Delayed speech and language development1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0001263Global developmental delay1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0012434Delayed social development1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0001270Motor delay1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0000750Delayed speech and language development1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0001263Global developmental delay1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0012434Delayed social development1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0012434Delayed social development1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0000750Delayed speech and language development1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0001270Motor delay1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0001263Global developmental delay1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0001263Global developmental delay1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0012434Delayed social development1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0001270Motor delay1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0000750Delayed speech and language development1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0001270Motor delay1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0000750Delayed speech and language development1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0001263Global developmental delay1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0012434Delayed social development1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0001270Motor delay1SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0000750Delayed speech and language development1SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0001263Global developmental delay1SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0012434Delayed social development1SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0012434Delayed social development1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0001270Motor delay1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0000750Delayed speech and language development1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0001263Global developmental delay1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0001263Global developmental delay1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0012434Delayed social development1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0001270Motor delay1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0000750Delayed speech and language development1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0001270Motor delay1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0000750Delayed speech and language development1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0001263Global developmental delay1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0012434Delayed social development1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011342Mild global developmental delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011344Severe global developmental delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0012736Profound global developmental delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0002194Delayed gross motor development2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0002474Expressive language delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0010863Receptive language delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011343Moderate global developmental delay2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0010862Delayed fine motor development2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0001344Absent speech2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0032988Persistent head lag2DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011342Mild global developmental delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011344Severe global developmental delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0002194Delayed gross motor development2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0002474Expressive language delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0010863Receptive language delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0012736Profound global developmental delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0010862Delayed fine motor development2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0001344Absent speech2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0032988Persistent head lag2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011343Moderate global developmental delay2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0010862Delayed fine motor development2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0001344Absent speech2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0032988Persistent head lag2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011343Moderate global developmental delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011342Mild global developmental delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011344Severe global developmental delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0002194Delayed gross motor development2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0002474Expressive language delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0010863Receptive language delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0012736Profound global developmental delay2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011343Moderate global developmental delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0010862Delayed fine motor development2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0001344Absent speech2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0032988Persistent head lag2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011342Mild global developmental delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011344Severe global developmental delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0012736Profound global developmental delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0002194Delayed gross motor development2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0002474Expressive language delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0010863Receptive language delay2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0002474Expressive language delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0010863Receptive language delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0012736Profound global developmental delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0002194Delayed gross motor development2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0001344Absent speech2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0032988Persistent head lag2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011343Moderate global developmental delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0010862Delayed fine motor development2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011342Mild global developmental delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011344Severe global developmental delay2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011344Severe global developmental delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0012736Profound global developmental delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0002194Delayed gross motor development2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0002474Expressive language delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0010863Receptive language delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011343Moderate global developmental delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0010862Delayed fine motor development2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0001344Absent speech2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0032988Persistent head lag2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011342Mild global developmental delay2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011342Mild global developmental delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011344Severe global developmental delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0002474Expressive language delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0010863Receptive language delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0012736Profound global developmental delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0002194Delayed gross motor development2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0032988Persistent head lag2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011343Moderate global developmental delay2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0010862Delayed fine motor development2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0001344Absent speech2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011343Moderate global developmental delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0010862Delayed fine motor development2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0001344Absent speech2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0032988Persistent head lag2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011342Mild global developmental delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011344Severe global developmental delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0012736Profound global developmental delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0002194Delayed gross motor development2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0002474Expressive language delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0010863Receptive language delay2SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0010863Receptive language delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0012736Profound global developmental delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0002194Delayed gross motor development2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0002474Expressive language delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0032988Persistent head lag2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011343Moderate global developmental delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0010862Delayed fine motor development2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0001344Absent speech2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011342Mild global developmental delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011344Severe global developmental delay2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011344Severe global developmental delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0012736Profound global developmental delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0002194Delayed gross motor development2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0002474Expressive language delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0010863Receptive language delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0010862Delayed fine motor development2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0001344Absent speech2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0032988Persistent head lag2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011343Moderate global developmental delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011342Mild global developmental delay2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011342Mild global developmental delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011344Severe global developmental delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0010863Receptive language delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0012736Profound global developmental delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0002194Delayed gross motor development2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0002474Expressive language delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0032988Persistent head lag2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011343Moderate global developmental delay2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0010862Delayed fine motor development2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0001344Absent speech2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0032989Delayed ability to roll over3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011345Moderate expressive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0033257Delayed ability to walk with support3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011351Moderate receptive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0033128Delayed ability to crawl3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011346Mild expressive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0031936Delayed ability to walk3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011350Mild receptive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0025335Delayed ability to stand3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0025336Delayed ability to sit3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0006863Severe expressive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0011352Severe receptive language delay3DDOST CL E G H1650300536ORPHA12532728602202
HP:0012758HP:0032989Delayed ability to roll over3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011345Moderate expressive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0033257Delayed ability to walk with support3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011351Moderate receptive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0033128Delayed ability to crawl3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011346Mild expressive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0031936Delayed ability to walk3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011350Mild receptive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0025335Delayed ability to stand3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0025336Delayed ability to sit3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0006863Severe expressive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0011352Severe receptive language delay3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0012758HP:0025336Delayed ability to sit3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0006863Severe expressive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011352Severe receptive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0032989Delayed ability to roll over3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011345Moderate expressive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0033257Delayed ability to walk with support3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011351Moderate receptive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0033128Delayed ability to crawl3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011346Mild expressive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0031936Delayed ability to walk3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011350Mild receptive language delay3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0025335Delayed ability to stand3ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012758HP:0011352Severe receptive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0025336Delayed ability to sit3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0006863Severe expressive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0032989Delayed ability to roll over3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011345Moderate expressive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0033257Delayed ability to walk with support3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011351Moderate receptive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0033128Delayed ability to crawl3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011346Mild expressive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0031936Delayed ability to walk3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0011350Mild receptive language delay3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0025335Delayed ability to stand3GABRA1 CL E G H255433069ORPHA16064075137160
HP:0012758HP:0025335Delayed ability to stand3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0025336Delayed ability to sit3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0006863Severe expressive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011352Severe receptive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0032989Delayed ability to roll over3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011345Moderate expressive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0033257Delayed ability to walk with support3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011351Moderate receptive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0033128Delayed ability to crawl3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011346Mild expressive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0031936Delayed ability to walk3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0011350Mild receptive language delay3GABRG2 CL E G H256633069ORPHA16024087137164
HP:0012758HP:0033128Delayed ability to crawl3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011346Mild expressive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0031936Delayed ability to walk3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011350Mild receptive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0025335Delayed ability to stand3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0025336Delayed ability to sit3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0006863Severe expressive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011352Severe receptive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0032989Delayed ability to roll over3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011345Moderate expressive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0033257Delayed ability to walk with support3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011351Moderate receptive language delay3PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0012758HP:0011345Moderate expressive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0033257Delayed ability to walk with support3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011351Moderate receptive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0032989Delayed ability to roll over3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011346Mild expressive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0031936Delayed ability to walk3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011350Mild receptive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0033128Delayed ability to crawl3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0025335Delayed ability to stand3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0025336Delayed ability to sit3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0006863Severe expressive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0011352Severe receptive language delay3SCN1A CL E G H632333069ORPHA1403010585182389
HP:0012758HP:0025336Delayed ability to sit3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0006863Severe expressive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011352Severe receptive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0032989Delayed ability to roll over3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011345Moderate expressive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0033257Delayed ability to walk with support3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011351Moderate receptive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0033128Delayed ability to crawl3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011346Mild expressive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0031936Delayed ability to walk3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0011350Mild receptive language delay3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0025335Delayed ability to stand3SCN1B CL E G H632433069ORPHA151110586600235
HP:0012758HP:0025335Delayed ability to stand3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0006863Severe expressive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011352Severe receptive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0025336Delayed ability to sit3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011345Moderate expressive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0033257Delayed ability to walk with support3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011351Moderate receptive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0032989Delayed ability to roll over3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0031936Delayed ability to walk3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011350Mild receptive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0033128Delayed ability to crawl3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0011346Mild expressive language delay3SCN2A CL E G H632633069ORPHA1228010588182390
HP:0012758HP:0033128Delayed ability to crawl3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011346Mild expressive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0031936Delayed ability to walk3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011350Mild receptive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0025335Delayed ability to stand3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0025336Delayed ability to sit3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0006863Severe expressive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011352Severe receptive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0032989Delayed ability to roll over3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011345Moderate expressive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0033257Delayed ability to walk with support3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011351Moderate receptive language delay3SCN9A CL E G H633533069ORPHA1225410597603415
HP:0012758HP:0011351Moderate receptive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0032989Delayed ability to roll over3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011345Moderate expressive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0033257Delayed ability to walk with support3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011350Mild receptive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0033128Delayed ability to crawl3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011346Mild expressive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0031936Delayed ability to walk3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0025335Delayed ability to stand3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0011352Severe receptive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0025336Delayed ability to sit3STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0012758HP:0006863Severe expressive language delay3STXBP1 CL E G H681233069ORPHA1101711444602926
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012758HP:0012758Neurodevelopmental delay0COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0012758Neurodevelopmental delay0PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0001263Global developmental delay1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0012434Delayed social development1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0000750Delayed speech and language development1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0001270Motor delay1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0012434Delayed social development1PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0001270Motor delay1PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0000750Delayed speech and language development1PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0001263Global developmental delay1PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011344Severe global developmental delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0002194Delayed gross motor development2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0002474Expressive language delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0010863Receptive language delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0012736Profound global developmental delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0001344Absent speech2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0032988Persistent head lag2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011343Moderate global developmental delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0010862Delayed fine motor development2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011342Mild global developmental delay2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0012736Profound global developmental delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0002194Delayed gross motor development2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0002474Expressive language delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0010863Receptive language delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011343Moderate global developmental delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0010862Delayed fine motor development2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0001344Absent speech2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0032988Persistent head lag2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011342Mild global developmental delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011344Severe global developmental delay2PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0033128Delayed ability to crawl3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011346Mild expressive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0031936Delayed ability to walk3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011350Mild receptive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0025335Delayed ability to stand3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0025336Delayed ability to sit3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0006863Severe expressive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011352Severe receptive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0032989Delayed ability to roll over3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011345Moderate expressive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0033257Delayed ability to walk with support3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0011351Moderate receptive language delay3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0012758HP:0025335Delayed ability to stand3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011352Severe receptive language delay3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0025336Delayed ability to sit3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0006863Severe expressive language delay3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011351Moderate receptive language delay3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0032989Delayed ability to roll over3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011345Moderate expressive language delay3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0033257Delayed ability to walk with support3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0033128Delayed ability to crawl3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011346Mild expressive language delay3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0031936Delayed ability to walk3PAX6 CL E G H5080137902ORPHA08058620607108
HP:0012758HP:0011350Mild receptive language delay3PAX6 CL E G H5080137902ORPHA08058620607108


Genes (1556) :AAAS AARS AASS ABAT ABCB7 ABCC8 ABCD4 ABHD5 ACADL ACADM ACADS ACADSB ACAT2 ACD ACO2 ACOX1 ACOX2 ACSF3 ACTA1 ACTB ACTG1 ACY1 ADA2 ADAMTS2 ADAMTSL2 ADAR ADCY5 ADD3 ADGRG1 ADK ADNP ADSL AFF2 AFF4 AGA AGK AGRN AGTPBP1 AHCY AHDC1 AHI1 AIFM1 AIMP1 AIMP2 AIPL1 AK9 AKT1 ALDH18A1 ALDH5A1 ALDH6A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG9 ALMS1 ALS2 ALX4 AMER1 AMPD2 ANK1 ANKLE2 ANKRD11 ANTXR1 AP1S1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APP AQP2 ARCN1 ARF1 ARFGEF2 ARG1 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARNT2 ARSE ARV1 ARVCF ARX ASAH1 ASCC1 ASH1L ASL ASNS ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATL1 ATP1A1 ATP1A3 ATP2B3 ATP5F1D ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX ATXN3 ATXN7 AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 BBS1 BBS2 BCAP31 BCL11A BCL11B BCOR BCR BCS1L BICD2 BIN1 BMP1 BMP2 BMP4 BMPER BMPR1B BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BUB1 BUB1B BUB3 C12ORF4 C12ORF57 C12ORF65 C19ORF12 C2CD3 C8ORF37 CA2 CA5A CACNA1A CACNA1C CACNA1D CACNA1E CACNA1G CAD CAMK2A CAMK2B CAMKMT CAMTA1 CANT1 CARS2 CASK CBL CBS CC2D1A CC2D2A CCDC115 CCDC174 CCDC22 CCDC47 CCDC88A CCND2 CCNK CD96 CDC42 CDC45 CDC6 CDCA7 CDH11 CDH23 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDKL5 CDKN1C CDON CDT1 CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP164 CEP290 CEP41 CEP57 CEP63 CFL2 CHAMP1 CHAT CHD1 CHD2 CHD3 CHD7 CHKB CHMP1A CHN1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHST14 CHST3 CIB2 CIC CIT CKAP2L CLCN4 CLCNKA CLCNKB CLIC2 CLN8 CLP1 CLPB CLTC CNKSR2 CNNM2 CNTNAP2 COA7 COA8 COASY COG1 COG2 COG4 COG6 COG7 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3BP COL5A1 COL6A1 COL6A2 COL6A3 COLEC11 COLQ COMT COPB2 COQ2 COQ7 COQ8A COQ9 CORO1A COX10 COX14 COX15 COX20 COX4I2 COX6B1 COX7B COX8A CP CPLANE1 CPLX1 CPS1 CRADD CRAT CRB1 CRBN CREBBP CRIPT CRKL CRPPA CRX CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNA2 CTNNB1 CTNND2 CUL4B CUX2 CWC27 CWF19L1 CXORF56 CYB5R3 CYFIP2 CYP27B1 CYP2U1 D2HGDH DAG1 DARS DARS2 DCC DCPS DCX DDC DDHD2 DDOST DDR2 DDX11 DDX3X DEAF1 DENND5A DHCR24 DHCR7 DHDDS DHFR DHTKD1 DHX30 DIS3L2 DKC1 DLAT DLD DLG3 DMD DMXL2 DNA2 DNAJC12 DNAJC19 DNAJC21 DNM1 DNM1L DNM2 DNMT3B DOCK3 DOCK6 DOCK7 DOK7 DONSON DPAGT1 DPF2 DPH1 DPM1 DPM2 DPYD DPYS DSE DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYRK1A EARS2 EBF3 EBP ECHS1 EDN1 EDNRB EED EEF1A2 EFL1 EFNB1 EFTUD2 EGF EGR2 EHMT1 EIF2AK3 EIF2S3 EIF4A3 ELAC2 ELOVL4 ELP2 EMC1 EMG1 EML1 EP300 EPG5 EPRS ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERLIN2 ERMARD ESCO2 ETHE1 EXOSC2 EXOSC3 EXOSC8 EXOSC9 EXT2 EXTL3 EYA1 EZH2 FAM111A FAM126A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FASTKD2 FBN1 FBN2 FBXL4 FBXO11 FDX2 FGD1 FGD4 FGF12 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP14 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT1 FLVCR1 FLVCR2 FMN2 FMR1 FOXE1 FOXE3 FOXG1 FOXP1 FOXP2 FOXRED1 FRA16E FRMD4A FRMPD4 FRRS1L FTO FTSJ1 FUCA1 FUT8 FZD2 G6PC3 GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALE GAMT GATA4 GATA6 GATAD2B GATM GBA GCH1 GCK GDAP1 GDF6 GDI1 GEMIN4 GFER GFM1 GFPT1 GHR GJA1 GJB1 GJB2 GJB6 GJC2 GK GLI2 GLI3 GLIS3 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNAI3 GNAO1 GNB1 GNB5 GNE GNPTAB GNS GORAB GP1BB GPAA1 GPC3 GPC4 GPHN GPR161 GPR88 GPT2 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GTF2E2 GTPBP2 GTPBP3 GUCY2D GYS2 H19 HAAO HACD1 HACE1 HADH HADHA HADHB HAL HARS HAX1 HCCS HCN1 HDAC4 HDAC8 HECW2 HELLS HEPACAM HERC1 HERC2 HESX1 HGSNAT HIBCH HIKESHI HIRA HIST1H1E HIVEP2 HLCS HMGA2 HMGB3 HMGCL HNF1B HNF4A HNMT HNRNPH2 HNRNPK HNRNPU HOXA1 HOXB1 HPRT1 HRAS HSD17B10 HSD17B4 HSPA9 HSPD1 HTT HUWE1 HYLS1 HYMAI IARS IARS2 IDH2 IDUA IER3IP1 IFIH1 IFT140 IFT172 IFT52 IGF1 IGF1R IGF2 IKBKG IMPDH1 INPP5E INPP5K INS INSR INTU INVS IPW IQCB1 IQSEC2 IRF2BPL IRX5 ISCA1 ISCA2 ITCH ITGA7 ITPA ITPR1 IVD IYD JAM3 JMJD1C KANSL1 KARS KAT6A KAT6B KATNB1 KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC3 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ6 KCNMA1 KCNQ2 KCNQ5 KCNT2 KDM1A KDM5B KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF14 KIF1A KIF1BP KIF1C KIF22 KIF2A KIF5C KIF7 KLC2 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KPTN KRAS KY KYNU L1CAM LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMC3 LAMP2 LARGE1 LARP7 LARS LAS1L LBR LCA5 LEMD3 LETM1 LHX1 LHX3 LHX4 LIAS LIG4 LINGO1 LINS1 LIPA LIPT1 LIPT2 LMAN2L LMBRD1 LMNA LMNB1 LMNB2 LMOD3 LNPK LONP1 LRAT LRP2 LRP4 LRP5 LRPPRC LTBP4 LTC4S LYRM7 LYST LZTFL1 MAD2L2 MAFB MAG MAGEL2 MAN1B1 MAN2B1 MAOA MAP2K1 MAP2K2 MAP3K20 MAPK1 MAPRE2 MARS MARS2 MAST1 MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCM3AP MCM4 MCOLN1 MCPH1 MCTP2 MDH2 MECP2 MECR MED12 MED13L MED17 MED25 MEF2C MEGF10 MEGF8 MEIS2 METTL23 MFF MFN2 MFSD2A MFSD8 MGP MICU1 MID1 MID2 MIPEP MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLYCD MMAA MMAB MMACHC MMADHC MMP13 MMUT MNX1 MOGS MORC2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRE11 MRPL3 MRPS2 MRPS34 MSMO1 MSTO1 MTFMT MTHFR MTMR14 MTMR2 MTO1 MTPAP MTR MTRR MUSK MVK MYF6 MYH3 MYH7 MYL2 MYMK MYO5A MYO5B MYO7A MYO9A MYPN MYRF MYT1L NAA10 NAA15 NACC1 NADK2 NAGA NALCN NAT8L NCAPD2 NCAPD3 NDE1 NDN NDST1 NDUFA1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB11 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFL NEK1 NELFA NEXMIF NF1 NFE2L2 NFIA NFIX NFKB2 NFU1 NGLY1 NHLRC2 NHP2 NIN NIPBL NKX2-1 NKX2-5 NKX6-2 NLGN4X NLRC4 NLRP3 NMNAT1 NONO NOP10 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NR2F1 NRAS NSD1 NSD2 NSDHL NSMCE3 NSUN2 NT5C2 NTRK1 NTRK2 NUBPL NUP107 NUP62 NUS1 OCLN OCRL OFD1 OGDH OGT OPA1 OPHN1 ORC1 ORC4 ORC6 OSGEP OTC OTUD6B OTX2 P3H1 P4HB PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK3 PALB2 PAM16 PANK2 PARN PAX1 PAX6 PAX8 PBX1 PC PCBD1 PCCA PCCB PCDH12 PCDH15 PCDH19 PCK1 PCLO PCNA PCNT PCYT1A PDE10A PDE4D PDE6D PDHA1 PDHX PDP1 PDX1 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHC1 PHF21A PHF8 PHGDH PHIP PHKA2 PHKG2 PIBF1 PIEZO1 PIEZO2 PIGA PIGC PIGG PIGH PIGN PIGO PIGP PIGS PIGT PIGV PIGW PIGY PIK3CA PIK3R1 PIK3R2 PITX3 PLA2G6 PLAA PLAGL1 PLCB4 PLEC PLEKHG2 PLG PLK4 PLOD1 PLOD3 PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PMPCB PNKP PNP PNPLA2 PNPO PNPT1 POC1A POGZ POLA1 POLG POLG2 POLR1C POLR1D POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPM1B PPM1D PPP1CB PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PREPL PRF1 PRKAR1A PRKD1 PRKRA PRMT7 PRNP PROC PRODH PROKR2 PROP1 PRPS1 PRUNE1 PRX PSAP PSAT1 PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PTPRQ PTRH2 PTS PUF60 PUM1 PURA PUS3 PWAR1 PWRN1 PYCR1 PYCR2 QARS QDPR QRICH1 RAB11B RAB18 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARS RARS2 RBBP8 RBM10 RBM8A RBPJ RD3 RDH11 RDH12 RELN REPS1 RERE RET REV3L RFT1 RFWD3 RHOBTB2 RLIM RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF125 RNF168 RNU12 RNU4ATAC ROBO1 ROGDI ROR2 RORA RPE65 RPGRIP1 RPGRIP1L RPIA RPL10 RPL35A RPS23 RPS28 RPS6KA3 RREB1 RSPRY1 RTEL1 RTTN RUBCN RUSC2 RXYLT1 RYR1 SALL1 SAMD9 SAMHD1 SARS SASS6 SATB2 SBDS SC5D SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SELENON SEMA3E SEMA5A SEPSECS SERAC1 SET SETBP1 SETD2 SETD5 SF3B4 SFXN4 SGCB SGPL1 SH2B1 SH3PXD2B SH3TC2 SHANK3 SHROOM4 SIK1 SIK3 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A1 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A26 SLC25A46 SLC26A4 SLC2A1 SLC2A10 SLC2A2 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A8 SLC6A9 SLC9A1 SLC9A6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC3 SMG9 SMO SMPD1 SNAP25 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX14 SOBP SON SOS2 SOX10 SOX11 SOX18 SOX2 SOX3 SOX5 SP7 SPARC SPART SPATA5 SPATA7 SPECC1L SPEG SPG21 SPINK5 SPR SPTBN2 SPTBN4 SRCAP SRD5A3 SRP54 SSR4 ST3GAL3 ST3GAL5 STAC3 STAG1 STAMBP STAT3 STIL STRADA STS STT3A STT3B STUB1 STX11 STX1B STX3 STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SURF1 SUZ12 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TAF1 TAF13 TAF2 TAF6 TALDO1 TANGO2 TARS2 TAZ TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX2 TBX4 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TECR TELO2 TENT5A TERC TERT TFAP2B TG TGDS TGFB1 TGFB3 TGFBR1 TGFBR2 TH THOC6 THRB TIMM50 TIMMDC1 TINF2 TK2 TLK2 TMCO1 TMEM106B TMEM107 TMEM138 TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TMEM94 TMTC3 TNFRSF11A TNFRSF11B TNIK TNNT1 TNPO3 TOE1 TP53 TP53RK TPI1 TPK1 TPM2 TPM3 TPO TPP1 TPP2 TPRKB TPRN TRAF3IP1 TRAF7 TRAIP TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRAPPC9 TREX1 TRHR TRIO TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRMU TRNE TRNK TRNN TRNS1 TRNT TRNT1 TRNW TRPV4 TRPV6 TSC1 TSC2 TSEN15 TSEN54 TSFM TSHR TTC19 TTC8 TTI2 TTN TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TXN2 UBA5 UBE2T UBE3A UBE3B UBTF UCP2 UFC1 UFD1 UFM1 UGT1A1 UMPS UNC80 UPB1 UQCC2 UQCC3 UQCRQ USB1 USH1C USH1G USP27X USP9X VAC14 VAMP1 VARS VARS2 VAX1 VDR VIPAS39 VLDLR VMA21 VPS11 VPS13B VPS13D VPS33A VPS33B VPS37A VPS45 VPS53 VRK1 WAC WARS2 WASHC4 WASHC5 WDR11 WDR19 WDR26 WDR34 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WHCR WNT1 WNT5A WRAP53 WWOX XRCC2 XRCC4 YME1L1 YWHAE YWHAG YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC15 ZEB2 ZFP57 ZFR ZIC1 ZIC2 ZMYND11 ZNF148 ZNF335 ZNF423 ZNF592 ZNF711 ZNHIT3 ZSWIM6

Diseases (1784) :139485 300536 2394 51188 33069 137902 231550 442835 616339 238700 613163 2802 99885 99886 276575 606176 614857 98907 201450 201470 610006 614055 3322 616553 2971 617308 614265 97244 171430 171439 171433 2020 97240 161800 79107 243310 2995 137754 609924 820 225410 231050 225154 51 615010 606703 617008 606854 614300 615873 103050 309548 616368 93 208400 212350 98914 618276 88618 613752 615829 220493 475 238329 300816 260600 65 201 447760 35664 616603 219150 616586 22 271980 614105 3006 266100 79327 608540 613661 607143 324422 300884 353327 607906 616228 79321 601110 79320 603147 608776 64 203800 607225 52022 2780 300373 615809 251066 2512 616681 2332 261250 148050 230740 609313 85329 85335 304340 608233 617276 280763 614066 613744 612936 614067 613647 821 324703 223 617164 618185 608097 90 207800 100300 617523 1465 614607 251056 135900 617808 612291 618161 600151 617622 3157 615926 302950 617020 567 452 309510 300004 333 228000 616867 617796 207900 314911 314918 608716 215700 97297 605039 617190 618011 496790 617183 94122 601238 617584 100984 182600 618314 71517 614820 314978 302500 618120 644 551500 300423 357074 2834 219200 278250 617403 618012 198 604273 301040 276241 276244 276238 94147 67046 250950 615834 899 615181 75496 93359 615349 245600 709 261540 607091 130070 615287 617120 209900 615981 300475 617101 617237 618092 2712 309800 300166 261330 256000 124000 363454 618291 615290 169186 255200 261295 139471 607932 608022 616849 614299 529962 617755 54595 500 1340 618056 614498 84 617883 616202 609054 617333 300659 363400 615924 602522 79241 253260 300755 1052 618221 1777 218340 613559 615035 614298 617406 2785 615751 617106 601005 369929 615474 618087 616457 617798 618095 163693 314647 614756 251450 616672 300422 300749 613563 236200 608443 2318 216360 616828 616816 300963 7 617507 615938 618147 211750 616737 2554 617063 613805 2268 616910 211380 231169 617694 617360 616342 604804 300672 614732 95496 614226 616781 617761 3156 614845 615991 614464 614728 616579 529965 617682 1942 615369 618205 138 602541 614961 233 608930 199318 608931 601776 263463 614869 617600 617090 3255 300114 613090 300886 600143 411493 615803 616271 617854 301008 616418 610042 220110 436271 615643 611209 435934 617395 263501 618150 614576 615328 3450 616470 616720 156550 286 614483 616351 158810 254090 265050 98915 617800 607426 616733 612016 614654 615401 255241 612714 2556 300887 48818 2754 614615 277170 352582 194190 617976 237300 614499 617917 607417 180849 370980 617062 397715 615636 617915 1775 615502 48431 604168 618174 615075 300354 618141 250410 453521 616127 301013 250800 264700 320411 615030 600721 613818 616538 615281 611105 617542 616459 300067 608643 320380 615033 614507 271665 613398 457260 819 617171 615828 602398 818 617836 613839 204750 617804 2849 267000 305000 245348 246900 300850 98896 616113 615807 617384 811 260400 616346 614388 160150 618292 614219 615859 617604 86309 608093 614750 618027 616901 615042 293948 274270 222748 95716 3107 180700 239 614228 158600 614104 614924 617330 300960 616277 137888 277580 3447 617561 616409 616393 304110 79113 610536 611718 605253 145900 96147 610253 1667 226980 300148 268305 615440 614457 617270 616875 600348 613684 1493 242840 617951 610758 220295 610756 601675 616570 75857 615544 3103 269000 602473 617763 614678 616081 618065 616682 617425 2792 277590 602361 85163 610532 259775 600901 609053 614083 616154 614946 284979 121050 615471 618089 251900 305400 609311 2396 613001 615465 166250 93259 123790 53271 35098 100800 610474 602849 616482 187600 606812 617107 611228 3472 300179 614557 34515 613153 236670 613152 611588 272 610883 2308 90652 300321 309350 56305 225790 616193 261483 95713 88632 613454 613670 602081 618241 136570 466688 616819 300983 616981 612938 309549 349 618005 612541 615744 617153 617829 617113 1606 603513 230350 612736 251071 600001 615074 612718 230900 231000 233910 99944 214400 300849 617913 330054 613076 609060 610542 633 1175 302800 608804 307030 615849 610829 672 146510 610199 220120 272750 616835 615510 363623 615350 615351 615352 615473 617493 488613 616973 617173 617182 3166 269921 252500 2078 231070 617810 373 615501 616939 477673 616281 617864 616204 611092 617820 245570 616139 613970 617162 617691 614831 616943 617988 616198 2089 180860 617660 464282 616756 71212 5 746 609015 610738 1001 3459 300882 617268 616911 604004 613925 613926 617011 615516 176270 226307 182230 252930 250620 616881 617537 616977 253270 94063 300915 246450 261265 93111 616739 300986 616580 238769 617391 614744 300322 218040 300438 261515 233400 616854 612233 617435 85328 617093 436174 616007 613657 93473 607014 614231 615846 616394 617102 73272 608747 73273 270450 616489 464 213300 610156 559 617404 262190 617926 217377 618088 617613 613385 613204 616647 208513 1065 206700 117360 33 243500 613730 610443 613641 457193 616268 85201 3047 606170 603736 616212 37612 618284 616056 98768 605259 611816 241200 199343 612780 276580 79137 617643 609446 121200 613720 617601 617771 616728 618109 85279 147920 300867 616784 616490 617822 617296 2526 2836 614213 614255 609460 397946 93360 615411 615282 607131 609541 300982 615731 319182 605130 617284 617768 617788 604321 615637 615278 609942 79155 236800 2466 2065 301006 615960 607855 618138 258 614115 300257 608840 615071 615438 309585 169400 280 614462 99812 606593 618103 614340 75233 616299 616887 277380 157973 613205 99027 616540 618090 1458 600373 222448 2143 2788 220111 614037 615838 167 615994 459056 616680 615547 614202 248500 300615 615279 615280 617760 2505 616734 401835 616430 618273 228402 156200 617188 85284 308205 210200 210210 618124 609981 252650 1596 617339 300055 300673 617282 305450 300895 616789 613668 616449 228384 613443 614399 614976 261190 600987 615942 617086 616486 610951 85202 401768 615673 300000 300928 617228 2473 615990 617121 248360 251100 251110 277400 79283 277410 250400 289916 79312 251000 176450 606056 616688 614741 609180 615219 234050 256810 101082 180800 251347 614582 617950 617664 616834 502423 617675 614947 618248 236250 601382 614702 254343 613672 250940 236270 29 343 610377 193700 254940 79476 33445 214450 2290 276900 618198 171881 618113 616521 276432 300855 617787 617393 431361 616034 79281 79279 609241 616266 615419 614063 614019 616116 301020 618243 618249 618235 618253 618234 618233 618240 618238 618239 618246 618226 252010 618222 618225 256030 615833 617201 607684 607734 617882 2751 263520 300912 139474 601321 617744 613735 602535 614753 293978 615577 605711 615273 618278 122470 118700 610978 95712 527497 617560 300495 1451 300967 2789 130720 257220 607625 220497 615722 249400 613224 117550 300831 611091 320396 613162 642 256800 617830 618242 616730 617082 617831 251290 300555 300804 31 300997 210000 137831 300486 613803 617729 311250 505237 617452 610125 610915 2050 615009 618067 217385 607432 79254 2209 618158 300558 613320 216866 234200 616353 95720 617641 266150 264070 35 606054 251280 602083 300088 261680 608027 615919 2637 210720 494526 616921 280651 614613 615665 312170 245349 608782 170100 772 601539 614871 266510 614883 614877 614886 614866 614867 614873 617370 616716 614863 401820 615802 614207 615716 300653 615816 618298 300263 617991 306000 613027 617767 616843 2461 617146 114300 300868 617816 616917 618010 614080 614749 617599 618143 615398 616025 616809 60040 602501 269880 603387 199351 256600 610217 521426 617527 254361 613723 616763 97231 616171 225400 612394 312080 617290 570 212065 1170 213200 617954 613402 613179 98908 79096 610090 614813 616364 301220 726 613662 203700 610131 861 616494 447896 607694 264090 613151 613157 614830 618135 615249 616094 86812 613155 609308 613156 613158 617450 617506 616362 616355 617711 256730 93946 616224 603553 617364 210571 612067 617157 157941 612304 239500 301835 1187 311070 300661 614895 249900 610992 617516 79350 614023 77301 109400 610828 2658 158350 605309 613391 616263 261640 13 508488 615583 617931 616158 617051 612940 614438 616420 615760 226 261630 617982 617807 2510 300271 311510 401830 614701 611553 1713 182290 438114 616140 611523 251255 311900 274000 614814 616108 257320 617916 616975 162300 244310 612015 618004 300978 614922 612951 616260 420741 2636 616651 226750 268310 618060 611560 608611 300998 612528 617412 606164 300844 616723 615190 614833 404499 615705 617773 324581 98905 424107 597 117000 255320 107480 617053 612952 617709 616402 251019 612313 46059 615548 607208 617350 613721 617938 617935 614198 614558 521411 604377 466794 616719 615993 3208 50814 602771 613811 614739 618106 616078 616831 615761 245 154400 615578 119 617575 261222 261197 329249 249420 601596 48652 606232 300434 1935 616341 618162 248800 369873 171829 94065 613406 157170 206900 182212 601678 616645 218000 1496 615905 616095 604369 269920 352649 618049 249270 607483 617105 612656 616657 615182 612949 238970 159 616794 616505 71277 606777 612126 608885 3342 227810 614482 603585 300896 615553 266265 617013 616721 617532 90045 229050 616269 2116 234500 238455 613135 52503 300352 617301 616291 300243 2588 3051 614609 242900 614608 616938 300590 610759 616920 601707 257200 616330 66631 609528 614501 614561 209850 616354 613671 500150 617140 616559 163746 609136 611584 137940 77298 300123 313892 616803 613849 616507 101000 275900 616577 145410 615959 101001 248900 634 256500 70594 612716 352403 600224 615386 617519 2044 612379 612713 370927 300934 615006 370938 609056 255995 617635 611087 281090 370921 615596 370924 615597 412057 603552 616172 1933 612073 245400 617757 585 272200 272300 612621 618218 284271 614229 615476 300966 617432 615599 617126 101028 616878 615918 302060 617695 79500 352596 615338 248000 617193 496756 617207 616944 602342 1727 188400 618223 261279 615314 2896 610954 616654 2753 320385 615031 614020 616954 617952 46627 169100 616145 618213 615582 609192 610168 101150 605407 613680 188570 617698 618251 613990 268130 254875 618050 213980 617964 617562 617563 614727 616829 608091 614970 614424 607454 610688 613550 614052 618316 617255 612301 239000 617028 98902 614969 618165 617730 615512 614458 609285 609284 204500 617731 613307 616629 618164 616777 618201 369847 615356 617669 617862 352530 225750 99832 617061 184260 617752 617598 486815 617066 616866 617873 618302 616033 616539 616084 181405 618188 805 617026 610505 99819 424 609152 615157 615985 615541 611705 611603 613180 615771 156610 615763 610031 300570 614039 600638 612438 615412 616335 251270 617746 200110 920 609286 616811 238446 105830 2707 244450 617672 276556 79234 30 258900 613161 615824 616111 615159 300919 300968 617054 617802 615917 614402 277440 613404 224050 310440 466934 193 216550 607317 617303 208085 319199 614898 615285 615851 607596 616708 617710 615817 220210 617616 615633 329284 300894 604317 83472 251300 610185 615220 284282 616211 614322 616541 617302 617665 617557 36367 612337 614069 3454 314580 300577 235730 401840 616602 609637 616083 617260 300803 260565 1827 617865 79134 614559 264470 607371 324588 46 98913 618006 401805 2508 300215 615574 615485 808 847 169189 614856 257300 615948 618285 617799 163937 618268 610687 143095 34527 613489 608779 130060 617821 615789 281 85293 618008 617281 66634 79322 608799 615539 223800 85282 1270 1466 209951 611225 617166 610706 85165 216340 606612 320406 88628 261144 617904 2710 257850 477 320401 95494 610015 576 252940 614254 324262 2157 614504 601536 611174 616370 616366 435628 439218 521390 617914 496689 615191 617668 178377 578 1762 300260 617087 324604 617983 605013 85277 614851 609583 617241 613886 616896 912 44 614870 614876 614882 79351 2059 280633 239300 614932 253280 617481 109 614225 617751 606744 610333 610329 611943 512260 192 178145 798 59 300523 99742 85278 601358 136140 614261 612164 616900 1617 609560 1194 605355 444463 369840 254864 1349 254857 277470 225753 478029 617132 618076 617899 616801 300984 616683 617977 615095 99900 608629 615686 616471 609033 618184 618244 618197 617143 608423 613192
 

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