Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cerebrum (HP:0002060)help
Parent Node:
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Abnormality of the cerebral cortex (HP:0002538)help
..Starting node
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Cortical dysplasia (HP:0002539)help
Term ID: 2539
Name: Cortical dysplasia
Synonym: Neocortical dysplasia
Definition: The presence of developmental dysplasia of the cerebral cortex.
Comments:
Reference: HP:0002539
Genes and Diseases:
 
       Child Nodes:
........expandFrontoparietal cortical dysplasia (HP:0006930) help

 Sister Nodes: 
..expandAbnormal cortical gyration (HP:0002536) help
..expandCerebral cortex with spongiform changes (HP:0006790) help
..expandCortical tubers (HP:0009717) help
..expandHypoplasia of the frontal lobes (HP:0007333) help
..expandNeuronal loss in the cerebral cortex (HP:0007190) help
..expandOpen operculum (HP:0100954) help
..expandSmall cerebral cortex (HP:0002472) help
..expandThick cerebral cortex (HP:0006891) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002539HP:0002539Cortical dysplasia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002539HP:0002539Cortical dysplasia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002539HP:0002539Cortical dysplasia0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0002539HP:0002539Cortical dysplasia0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002539HP:0002539Cortical dysplasia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002539HP:0002539Cortical dysplasia0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002539HP:0002539Cortical dysplasia0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002539HP:0002539Cortical dysplasia0MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM1335563942601231
HP:0002539HP:0002539Cortical dysplasia0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002539HP:0002539Cortical dysplasia0TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0002539HP:0002539Cortical dysplasia0TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1404235112362605284
HP:0002539HP:0002539Cortical dysplasia0TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0002539HP:0002539Cortical dysplasia0TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM11269558112363191092
HP:0002539HP:0002539Cortical dysplasia0TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002539HP:0002539Cortical dysplasia0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002539HP:0002539Cortical dysplasia0TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
HP:0002539HP:0002539Cortical dysplasia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002539HP:0002539Cortical dysplasia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002539HP:0002539Cortical dysplasia1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0002539HP:0002539Cortical dysplasia1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002539HP:0002539Cortical dysplasia1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002539HP:0002539Cortical dysplasia1KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002539HP:0002539Cortical dysplasia1KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002539HP:0002539Cortical dysplasia1MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM1335563942601231
HP:0002539HP:0002539Cortical dysplasia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002539HP:0002539Cortical dysplasia1TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0002539HP:0002539Cortical dysplasia1TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1404235112362605284
HP:0002539HP:0002539Cortical dysplasia1TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0002539HP:0002539Cortical dysplasia1TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM11269558112363191092
HP:0002539HP:0002539Cortical dysplasia1TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002539HP:0002539Cortical dysplasia1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002539HP:0002539Cortical dysplasia1TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
HP:0002539HP:0002539Cortical dysplasia2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002539HP:0002539Cortical dysplasia2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002539HP:0002539Cortical dysplasia2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0002539HP:0002539Cortical dysplasia2FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002539HP:0002539Cortical dysplasia2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002539HP:0002539Cortical dysplasia2KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002539HP:0002539Cortical dysplasia2KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002539HP:0002539Cortical dysplasia2MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM1335563942601231
HP:0002539HP:0002539Cortical dysplasia2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002539HP:0002539Cortical dysplasia2TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0002539HP:0002539Cortical dysplasia2TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1404235112362605284
HP:0002539HP:0002539Cortical dysplasia2TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0002539HP:0002539Cortical dysplasia2TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM11269558112363191092
HP:0002539HP:0002539Cortical dysplasia2TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002539HP:0002539Cortical dysplasia2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002539HP:0002539Cortical dysplasia2TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
HP:0002539HP:0002539Cortical dysplasia3ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002539HP:0002539Cortical dysplasia3ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002539HP:0002539Cortical dysplasia3B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0002539HP:0002539Cortical dysplasia3FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002539HP:0002539Cortical dysplasia3HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002539HP:0002539Cortical dysplasia3KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002539HP:0002539Cortical dysplasia3KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002539HP:0002539Cortical dysplasia3MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM1335563942601231
HP:0002539HP:0002539Cortical dysplasia3SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002539HP:0002539Cortical dysplasia3TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0002539HP:0002539Cortical dysplasia3TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1404235112362605284
HP:0002539HP:0002539Cortical dysplasia3TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0002539HP:0002539Cortical dysplasia3TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM11269558112363191092
HP:0002539HP:0002539Cortical dysplasia3TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002539HP:0002539Cortical dysplasia3TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002539HP:0002539Cortical dysplasia3TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
HP:0002539HP:0002539Cortical dysplasia4ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002539HP:0002539Cortical dysplasia4ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002539HP:0002539Cortical dysplasia4B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0002539HP:0002539Cortical dysplasia4FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002539HP:0002539Cortical dysplasia4HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002539HP:0002539Cortical dysplasia4KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002539HP:0002539Cortical dysplasia4KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002539HP:0002539Cortical dysplasia4MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM1335563942601231
HP:0002539HP:0002539Cortical dysplasia4SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002539HP:0002539Cortical dysplasia4TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0002539HP:0002539Cortical dysplasia4TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1404235112362605284
HP:0002539HP:0002539Cortical dysplasia4TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0002539HP:0002539Cortical dysplasia4TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM11269558112363191092
HP:0002539HP:0002539Cortical dysplasia4TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002539HP:0002539Cortical dysplasia4TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002539HP:0002539Cortical dysplasia4TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002539HP:0002539Cortical dysplasia0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM021379019048605481
HP:0002539HP:0002539Cortical dysplasia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002539HP:0002539Cortical dysplasia0DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002539HP:0002539Cortical dysplasia0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002539HP:0002539Cortical dysplasia0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002539HP:0002539Cortical dysplasia0VPS37A CL E G H137492319199ORPHA0213624928609927
HP:0002539HP:0002539Cortical dysplasia1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM021379019048605481
HP:0002539HP:0002539Cortical dysplasia1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002539HP:0002539Cortical dysplasia1DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002539HP:0002539Cortical dysplasia1NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002539HP:0002539Cortical dysplasia1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002539HP:0002539Cortical dysplasia1VPS37A CL E G H137492319199ORPHA0213624928609927
HP:0002539HP:0002539Cortical dysplasia2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM021379019048605481
HP:0002539HP:0002539Cortical dysplasia2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002539HP:0002539Cortical dysplasia2DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002539HP:0002539Cortical dysplasia2NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002539HP:0002539Cortical dysplasia2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002539HP:0002539Cortical dysplasia2VPS37A CL E G H137492319199ORPHA0213624928609927
HP:0002539HP:0002539Cortical dysplasia3ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM021379019048605481
HP:0002539HP:0002539Cortical dysplasia3CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002539HP:0002539Cortical dysplasia3DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002539HP:0002539Cortical dysplasia3NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002539HP:0002539Cortical dysplasia3TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002539HP:0002539Cortical dysplasia3VPS37A CL E G H137492319199ORPHA0213624928609927
HP:0002539HP:0002539Cortical dysplasia4ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM021379019048605481
HP:0002539HP:0002539Cortical dysplasia4CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002539HP:0002539Cortical dysplasia4DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002539HP:0002539Cortical dysplasia4NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002539HP:0002539Cortical dysplasia4TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002539HP:0002539Cortical dysplasia4VPS37A CL E G H137492319199ORPHA0213624928609927


Genes (26) :ARHGAP31 ASNS ASPM B4GAT1 CNTNAP2 COL4A1 CUL4B DDX3X DEPDC5 FGFR1 HSD17B4 KIF2A KIF5C MTOR NEDD4L NPRL2 NPRL3 SNAP29 TSC1 TSC2 TUBB TUBB2A TUBB2B TUBB3 TUBG1 VPS37A

Diseases (25) :100300 615574 608716 615287 300354 457260 613001 261515 615411 615282 607341 617201 609528 805 615771 615763 614039 615412 319199 610042 175780 617116 617118 610031 604364
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.