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encyclopedia of Rare Disease Annotation for Precision Medicine

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	meningocele

Disease ID	1374
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:12) C0085113 \| neurofibromatosis \| 6 C0080178 \| spina bifida \| 3 C0010964 \| dandy-walker syndrome \| 1 C0014544 \| epilepsy \| 1 C0030486 \| paraplegia \| 1 C0011649 \| dermoid \| 1 C0025289 \| meningitis \| 1 C0023798 \| lipoma \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0078981 \| arachnoid cyst \| 1 C0011649 \| mature cystic teratoma \| 1 C0040997 \| trigeminal neuralgia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 174 \| AFP \| 2.337 \| DISEASES 55750 \| AGK \| 2.89 \| DISEASES 257 \| ALX3 \| 3.14 \| DISEASES 80781 \| COL18A1 \| 2.084 \| DISEASES 9244 \| CRLF1 \| 2.088 \| DISEASES 1641 \| DCX \| 1.478 \| DISEASES 3266 \| ERAS \| 1.269 \| DISEASES 2066 \| ERBB4 \| 1.307 \| DISEASES 8091 \| HMGA2 \| 2.739 \| DISEASES 55600 \| ITLN1 \| 1.79 \| DISEASES 4153 \| MBL2 \| 1.663 \| DISEASES 79104 \| MEG8 \| 1.937 \| DISEASES 4763 \| NF1 \| 4.213 \| DISEASES 4855 \| NOTCH4 \| 2.108 \| DISEASES 5080 \| PAX6 \| 2.134 \| DISEASES 146713 \| RBFOX3 \| 1.142 \| DISEASES 83695 \| RHNO1 \| 1.216 \| DISEASES 26503 \| SLC17A5 \| 1.854 \| DISEASES 246329 \| STAC3 \| 2.221 \| DISEASES 202500 \| TCTE1 \| 4.058 \| DISEASES 7018 \| TF \| 1.03 \| DISEASES 9414 \| TJP2 \| 2.372 \| DISEASES 51271 \| UBAP1 \| 2.42 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1374
Disease	meningocele
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001067 \| Neurofibromas \| 7 HP:0002414 \| Spina bifida \| 3 HP:0006946 \| Recurrent meningitis \| 2 HP:0002144 \| Occult spinal dysraphism \| 2 HP:0002948 \| Fusion of vertebral bodies \| 1 HP:0010550 \| Paraplegia \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0002835 \| Aspiration \| 1 HP:0012032 \| Lipoma \| 1 HP:0002949 \| Fused cervical vertebrae \| 1 HP:0030770 \| Craniorachischisis \| 1 HP:0001287 \| Meningitis \| 1 HP:0100661 \| Trigeminal neuralgia \| 1 HP:0100702 \| Arachnoid cyst \| 1

Disease ID	1374
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.)

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	1374
Disease	meningocele
Case	(Waiting for update.)

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