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	periventricular nodular heterotopia

Disease ID	1046
Disease	periventricular nodular heterotopia
Definition	A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Synonym	heterotopia, periventricular nodular heterotopias, periventricular heterotopias, periventricular nodular nodular heterotopia, periventricular nodular heterotopias, periventricular periventricular heterotopia periventricular heterotopias periventricular nodular heterotopia [disease/finding] periventricular nodular heterotopias
Orphanet	ORPHANET:98892
DOID	DOID:0050454
UMLS	C1868720
MeSH	D054091
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0013720 \| ehlers-danlos syndrome \| 2 C0014544 \| epilepsy \| 1 C0086543 \| cataracts \| 1 C0795864 \| smith-magenis syndrome \| 1 C0410528 \| skeletal dysplasia \| 1 C0024115 \| lung disease \| 1 C0020550 \| hyperthyroidism \| 1 C0033975 \| psychosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 10564 \| ARFGEF2 \| GHR;ORPHANET;UNIPROT 2316 \| FLNA \| CTD_human;GHR;ORPHANET;UNIPROT 55780 \| ERMARD \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 87 \| ACTN1 \| 2.239 \| DISEASES 88 \| ACTN2 \| 2.326 \| DISEASES 257 \| ALX3 \| 2.529 \| DISEASES 10564 \| ARFGEF2 \| 6.802 \| DISEASES 170302 \| ARX \| 2.845 \| DISEASES 633 \| BGN \| 1.061 \| DISEASES 79827 \| CLMP \| 2.141 \| DISEASES 1289 \| COL5A1 \| 1.832 \| DISEASES 192668 \| CYS1 \| 1.947 \| DISEASES 9267 \| CYTH1 \| 3.766 \| DISEASES 51473 \| DCDC2 \| 2.285 \| DISEASES 1641 \| DCX \| 4.817 \| DISEASES 1739 \| DLG1 \| 2.01 \| DISEASES 28514 \| DLL1 \| 1.705 \| DISEASES 1785 \| DNM2 \| 1.121 \| DISEASES 1778 \| DYNC1H1 \| 2.245 \| DISEASES 2018 \| EMX2 \| 4.725 \| DISEASES 80712 \| ESX1 \| 1.731 \| DISEASES 2115 \| ETV1 \| 2.499 \| DISEASES 23265 \| EXOC7 \| 2.727 \| DISEASES 2253 \| FGF8 \| 1.246 \| DISEASES 286467 \| FIRRE \| 4.141 \| DISEASES 79147 \| FKRP \| 1.531 \| DISEASES 2316 \| FLNA \| 6.987 \| DISEASES 2317 \| FLNB \| 3.91 \| DISEASES 8729 \| GBF1 \| 4.465 \| DISEASES 2903 \| GRIN2A \| 1.792 \| DISEASES 2939 \| GSTA2 \| 2.286 \| DISEASES 9446 \| GSTO1 \| 1.318 \| DISEASES 3547 \| IGSF1 \| 2.427 \| DISEASES 26173 \| INTS1 \| 3.434 \| DISEASES 55656 \| INTS8 \| 3.1 \| DISEASES 3800 \| KIF5C \| 2.88 \| DISEASES 3996 \| LLGL1 \| 1.64 \| DISEASES 9863 \| MAGI2 \| 2.302 \| DISEASES 4216 \| MAP3K4 \| 2.581 \| DISEASES 219541 \| MED19 \| 2.186 \| DISEASES 25834 \| MGAT4C \| 2.587 \| DISEASES 4650 \| MYO9B \| 2.225 \| DISEASES 23327 \| NEDD4L \| 2.656 \| DISEASES 4929 \| NR4A2 \| 2.046 \| DISEASES 347468 \| OR13H1 \| 3.377 \| DISEASES 5048 \| PAFAH1B1 \| 5.378 \| DISEASES 5080 \| PAX6 \| 1.524 \| DISEASES 9468 \| PCYT1B \| 3.289 \| DISEASES 5165 \| PDK3 \| 3.938 \| DISEASES 55274 \| PHF10 \| 4.095 \| DISEASES 55624 \| POMGNT1 \| 2.723 \| DISEASES 22930 \| RAB3GAP1 \| 2.222 \| DISEASES 1827 \| RCAN1 \| 1.58 \| DISEASES 5649 \| RELN \| 4.517 \| DISEASES 6096 \| RORB \| 3.313 \| DISEASES 8036 \| SHOC2 \| 2.017 \| DISEASES 6654 \| SOS1 \| 1.117 \| DISEASES 6658 \| SOX3 \| 1.933 \| DISEASES 10252 \| SPRY1 \| 1.639 \| DISEASES 27286 \| SRPX2 \| 5.214 \| DISEASES 10716 \| TBR1 \| 2.263 \| DISEASES 6915 \| TBXA2R \| 1.919 \| DISEASES 7058 \| THBS2 \| 1.421 \| DISEASES 7161 \| TP73 \| 1.632 \| DISEASES 113457 \| TUBA3D \| 4.407 \| DISEASES 7436 \| VLDLR \| 2.315 \| DISEASES 23038 \| WDTC1 \| 1.921 \| DISEASES 7465 \| WEE1 \| 1.329 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) FLNA \| Xq28 ERMARD \| 6q27 NEDD4L \| 18q21.31 ARFGEF2 \| 20q13.13

Disease ID	1046
Disease	periventricular nodular heterotopia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0000518 \| Cataract \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0000709 \| Psychosis \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0000252 \| Small head circumference \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0002315 \| Headaches \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0007291 \| Posterior fossa cyst \| 1 HP:0001250 \| Seizures \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0002126 \| Polymicrogyria \| 1

Disease ID	1046
Disease	periventricular nodular heterotopia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1837249 \| neuronal migration disorder C0220687 \| kbg syndrome C0014547 \| focal epilepsies C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0014544 \| epilepsy \| 1 C0220687 \| kbg syndrome \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1046
Disease	periventricular nodular heterotopia
Case	(Waiting for update.)

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