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encyclopedia of Rare Disease Annotation for Precision Medicine

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	wound botulism

Disease ID	901
Disease	wound botulism
Definition	Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.
Synonym	botulism, wound botulisms, wound wound botulism (disorder) wound botulisms
Orphanet	ORPHANET:178475
DOID	DOID:0050353
ICD10	ICD10CM:A48.52
UMLS	C1306794
SNOMED-CT	SNOMEDCT_US_2016_09_01:398530003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0010678 \| cysticercosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:2) 26190 \| FBXW2 \| 5.143 \| DISEASES 5077 \| PAX3 \| 3.236 \| DISEASES
Locus	(Waiting for update.)

Disease ID	901
Disease	wound botulism
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:15) HP:0002094 \| Dyspnea HP:0011499 \| Mydriasis HP:0001324 \| Muscle weakness HP:0000016 \| Urinary retention HP:0002015 \| Dysphagia HP:0100021 \| Cerebral palsy HP:0001695 \| Cardiac arrest HP:0002019 \| Constipation HP:0002747 \| Respiratory insufficiency due to muscle weakness HP:0006597 \| Diaphragmatic paralysis HP:0001945 \| Fever HP:0006824 \| Cranial nerve paralysis HP:0000651 \| Diplopia HP:0000508 \| Ptosis HP:0001260 \| Dysarthria
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002015 \| Swallowing difficulty \| 1

Disease ID	901
Disease	wound botulism
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001324	Muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
HP:0006824	Cranial nerve paralysis	MP:0006303	abnormal retinal nerve fiber layer morphology	any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve
HP:0006597	Diaphragmatic paralysis	MP:0000755	hindlimb paralysis	loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply
HP:0002747	Respiratory insufficiency due to muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time

Mapped by homologous gene(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100021	Cerebral palsy	MP:0013026	decreased Ly6C low monocyte number	decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001945	Fever	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000508	Ptosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002747	Respiratory insufficiency due to muscle weakness	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002015	Dysphagia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002019	Constipation	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0011499	Mydriasis	MP:0009862	abnormal aorta elastic tissue morphology	any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall
HP:0006597	Diaphragmatic paralysis	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0001260	Dysarthria	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001695	Cardiac arrest	MP:0013578	abnormal stomach glandular region morphology	any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g
HP:0001324	Muscle weakness	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000651	Diplopia	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000016	Urinary retention	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0006824	Cranial nerve paralysis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	901
Disease	wound botulism
Case	(Waiting for update.)

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