PedAM

Pediatric Disease Annotations & Medicines


	meningocele

Disease ID	615
Disease	meningocele
Definition	A congenital abnormality in which the meninges protrude through a defect in the spinal column.
Synonym	congenital spinal meningocele congenital spinal meningocele (disorder) spinal meningocele spinal meningocele (disorder) spinal meningocele nos spinal meningocele nos (disorder) spinal meningocele of unspecified site spinal meningocele of unspecified site (disorder)
Orphanet	ORPHANET:93968
DOID	DOID:1088
UMLS	C0009730
MeSH	D008588
SNOMED-CT	SNOMEDCT_US_2016_09_01:65144005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0085113 \| neurofibromatosis \| 7 C0080178 \| spina bifida \| 3 C0011649 \| dermoid \| 2 C0011649 \| dermoid cyst \| 1 C0037928 \| spinal cord disease \| 1 C0078981 \| arachnoid cyst \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0010964 \| dandy-walker syndrome \| 1 C0023798 \| lipoma \| 1 C0039144 \| syringomyelia \| 1 C0037928 \| spinal cord diseases \| 1 C0014544 \| epilepsy \| 1 C0040997 \| trigeminal neuralgia \| 1 C0011649 \| mature cystic teratoma \| 1 C0025289 \| meningitis \| 1 C0030486 \| paraplegia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:47) 63923 \| TNN \| DISEASES 3110 \| MNX1 \| DISEASES 182 \| JAG1 \| DISEASES 4853 \| NOTCH2 \| DISEASES 57498 \| KIDINS220 \| DISEASES 6496 \| SIX3 \| DISEASES 23314 \| SATB2 \| DISEASES 4854 \| NOTCH3 \| DISEASES 3299 \| HSF4 \| DISEASES 11081 \| KERA \| DISEASES 166378 \| SPATA5 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 10225 \| CD96 \| DISEASES 4838 \| NODAL \| DISEASES 9317 \| PTER \| DISEASES 717 \| C2 \| DISEASES 29123 \| ANKRD11 \| DISEASES 54360 \| CYTL1 \| DISEASES 27087 \| B3GAT1 \| DISEASES 10238 \| DCAF7 \| DISEASES 57101 \| ANO2 \| DISEASES 6773 \| STAT2 \| DISEASES 27319 \| BHLHE22 \| DISEASES 137814 \| NKX2-6 \| DISEASES 55600 \| ITLN1 \| DISEASES 246329 \| STAC3 \| DISEASES 1641 \| DCX \| DISEASES 3266 \| ERAS \| DISEASES 2066 \| ERBB4 \| DISEASES 55750 \| AGK \| DISEASES 80781 \| COL18A1 \| DISEASES 26503 \| SLC17A5 \| DISEASES 4763 \| NF1 \| DISEASES 257 \| ALX3 \| DISEASES 202500 \| TCTE1 \| DISEASES 4153 \| MBL2 \| DISEASES 4855 \| NOTCH4 \| DISEASES 5080 \| PAX6 \| DISEASES 9244 \| CRLF1 \| DISEASES 174 \| AFP \| DISEASES 8091 \| HMGA2 \| DISEASES 7018 \| TF \| DISEASES 146713 \| RBFOX3 \| DISEASES 9414 \| TJP2 \| DISEASES 83695 \| RHNO1 \| DISEASES 51271 \| UBAP1 \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	615
Disease	meningocele
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0001067 \| Neurofibromas \| 7 HP:0002414 \| Spina bifida \| 3 HP:0006946 \| Recurrent meningitis \| 2 HP:0002144 \| Occult spinal dysraphism \| 2 HP:0030770 \| Craniorachischisis \| 1 HP:0002949 \| Fused cervical vertebrae \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002835 \| Aspiration \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0002948 \| Fusion of vertebral bodies \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0001287 \| Meningitis \| 1 HP:0010550 \| Paraplegia \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001762 \| Talipes equinovarus \| 1 HP:0012032 \| Lipoma \| 1 HP:0100661 \| Trigeminal neuralgia \| 1

Disease ID	615
Disease	meningocele
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C2240378 \| cleft palate C0746495 \| recurrent meningitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0746495 \| recurrent meningitis \| 2

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0009730	valproic acid	D014635	99-66-1	meningocele	MESH:D008588	marker/mechanism	1377411

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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