PedAM

Pediatric Disease Annotations & Medicines


	caudal regression syndrome

Disease ID	1396
Disease	caudal regression syndrome
Definition	A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine.
Synonym	caudal dysplasia sequence caudal dysplasia sequence (disorder) caudal dysplasia sequence [dup] (disorder) caudal regression sacral agenesis
UMLS	C0300948
SNOMED-CT	SNOMEDCT_US_2016_09_01:8301004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0265343 \| vertebral anomalies \| 2 C0011847 \| diabetes \| 1 C0017601 \| glaucoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) FUZ \| 80199 \| ORPHANET VANGL1 \| 81839 \| CLINVAR;ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1592 \| CYP26A1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1396
Disease	caudal regression syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0003468 \| Vertebral anomalies \| 2 HP:0001087 \| Childhood glaucoma \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0000501 \| Glaucoma \| 1 HP:0100562 \| Duplication of spinal cord \| 1 HP:0010497 \| Sirenomelia \| 1 HP:0001338 \| Partial agenesis of the corpus callosum \| 1

Disease ID	1396
Disease	caudal regression syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118192177	NA	6261	RYR1	umls:C0344490	CLINVAR	NA	0.12	NA	RYR1	19	38496283	C	G,T
rs121918218	NA	81839	VANGL1	umls:C0300948	CLINVAR	NA	0.24	NA	VANGL1	1	115664171	G	A

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:0)
(Waiting for update.)

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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