PedAM

Pediatric Disease Annotations & Medicines


	chiari malformation type i

Disease ID	1424
Disease	chiari malformation type i
Definition	Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. [HPO:curators]
Synonym	arnold chiari malformation, type 1 arnold chiari malformation, type i arnold chiari type 1 arnold chiari type i malformation arnold-chiari malformation, type 1 arnold-chiari malformation, type i arnold-chiari type i malformation chiari i malformation chiari malformation type i (disorder) chiari type i malformation cm1 type i arnold chiari malformation type i arnold-chiari malformation type i chiari malformation
OMIM	OMIM:118420
UMLS	C0750929
SNOMED-CT	SNOMEDCT_US_2016_09_01:253185002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0039144 \| syringomyelia \| 5 C0036439 \| scoliosis \| 2 C0020255 \| hydrocephalus \| 2 C0010278 \| craniosynostosis \| 1 C0037315 \| sleep apnea \| 1 C0037315 \| sleep-disordered breathing \| 1 C0003857 \| arteriovenous malformation \| 1 C0080178 \| spinal dysraphism \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1424
Disease	chiari malformation type i
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0003396 \| Syringomyelia \| 5 HP:0002650 \| Scoliosis \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0010535 \| Sleep apnea \| 1 HP:0012366 \| Basilar invagination \| 1 HP:0010301 \| Spinal dysraphism \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0012721 \| Venous malformations \| 1 HP:0002315 \| Headaches \| 1

Disease ID	1424
Disease	chiari malformation type i
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1963184 \| nystagmus C1963137 \| hydrocephalus C0851578 \| sleep disorders C0235031 \| neurological symptoms C0043019 \| lateral medullary syndrome C0039145 \| syringomyelia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0039144 \| syringomyelia \| 5 C0020255 \| hydrocephalus \| 2

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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