Term ID: |
2472 |
Name: |
Small cerebral cortex |
Synonym: |
Decreased volume of cerebral cortex |
Definition: |
Reduced size of the cerebral cortex. |
Comments: |
|
Reference: |
HP:0002472 |
Genes and Diseases: | |
Child Nodes: |
........Small superior frontal cortex (HP:0031421) |
Sister Nodes: |
..Abnormal cortical gyration (HP:0002536)
|
..Cerebral cortex with spongiform changes (HP:0006790)
|
..Cortical dysplasia (HP:0002539)
|
..Cortical tubers (HP:0009717)
|
..Hypoplasia of the frontal lobes (HP:0007333)
|
..Neuronal loss in the cerebral cortex (HP:0007190)
|
..Open operculum (HP:0100954)
|
..Thick cerebral cortex (HP:0006891)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | . | | | 512 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | HP:0040283 - Occasional | | | 8 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | . | | | 181 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:608393 | Microcephaly, primary autosomal recessive, 6 | . | | | 161 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | MCPH1 CL E G H | 79648 | 6954 | OMIM:251200 | Microcephaly, primary autosomal recessive, 1 | . | | | 155 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040282 - Frequent | | | 241 | | | HP:0002472 | HP:0002472 | Small cerebral cortex | 0 | ZNF335 CL E G H | 63925 | 15807 | ORPHA:329228 | Microcephalic primordial dwarfism due to ZNF335 deficiency | HP:0040281 - Very frequent | | | 60 | | | HP:0002472 | HP:0031421 | Small superior frontal cortex | 1 | CL E G H | | | | | | | | | | |
Genes (8) :ASPM CDK13 CDK5RAP2 CENPJ KIF14 MCPH1 TCF4 ZNF335
Diseases (8) :OMIM:608716 OMIM:617360 OMIM:604804 OMIM:608393 OMIM:617914 OMIM:251200 ORPHA:2896 ORPHA:329228 |
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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