eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	crimean-congo hemorrhagic fever

Disease ID	261
Disease	crimean-congo hemorrhagic fever
Definition	A severe, often fatal disease in humans caused by the Crimean-Congo hemorrhagic fever virus (HEMORRHAGIC FEVER VIRUS, CRIMEAN-CONGO).
Synonym	cchf cchf - crimean-congo haemorrhagic fever cchf - crimean-congo hemorrhagic fever central asian haemorrhagic fever central asian hemorrhagic fever chf - crimean haemorrhagic fever chf - crimean hemorrhagic fever chf congo virus congo fever congo virus infect congo virus infection congo virus infections congo-crimean haemorrhagic fever congo-crimean hemorrhagic fever congo-crimean hemorrhagic fever (disorder) crimean congo haemorrhagic fever crimean congo hemorrhagic fever crimean haemorrhagic fever crimean hemorrhagic fev crimean hemorrhagic fever crimean hemorrhagic fever [chf congo virus] crimean hemorrhagic fevers crimean-congo haemorrhagic fever fever, crimean hemorrhagic fevers, crimean hemorrhagic hemorrhagic fever, crimean hemorrhagic fever, crimean [disease/finding] hemorrhagic fever, crimean-congo hemorrhagic fevers, crimean infect congo virus infection, congo virus infections, congo virus viral haemorrhagic fever, crimean-congo viral hemorrhagic fever, crimean-congo
Orphanet	ORPHANET:99827
DOID	DOID:12287
ICD10	ICD10CM:A98.0
UMLS	C0019099
MeSH	D006479
SNOMED-CT	SNOMEDCT_US_2016_09_01:43489008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0040034 \| thrombocytopenia \| 3 C0003864 \| arthritis \| 1 C0008325 \| cholecystitis \| 1 C0267841 \| acalculous cholecystitis \| 1 C0022116 \| ischemia \| 1 C0026780 \| parotitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 51311 \| TLR8 \| CIPHER 54106 \| TLR9 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:25) 199800 \| ADM5 \| 3.269 \| DISEASES 959 \| CD40LG \| 4.607 \| DISEASES 1629 \| DBT \| 2.217 \| DISEASES 1906 \| EDN1 \| 1.359 \| DISEASES 1974 \| EIF4A2 \| 2.272 \| DISEASES 1977 \| EIF4E \| 1.047 \| DISEASES 1981 \| EIF4G1 \| 1.799 \| DISEASES 2152 \| F3 \| 3.706 \| DISEASES 252995 \| FNDC5 \| 1.516 \| DISEASES 2813 \| GP2 \| 2.727 \| DISEASES 3112 \| HLA-DOB \| 2.127 \| DISEASES 3446 \| IFNA10 \| 3.084 \| DISEASES 3451 \| IFNA17 \| 1.548 \| DISEASES 3586 \| IL10 \| 1.574 \| DISEASES 9636 \| ISG15 \| 1.617 \| DISEASES 3767 \| KCNJ11 \| 1.9 \| DISEASES 8720 \| MBTPS1 \| 3.079 \| DISEASES 50863 \| NTM \| 2.954 \| DISEASES 55742 \| PARVA \| 2.404 \| DISEASES 11201 \| POLI \| 1.697 \| DISEASES 80274 \| SCUBE1 \| 2.999 \| DISEASES 462 \| SERPINC1 \| 1.363 \| DISEASES 55576 \| STAB2 \| 3.513 \| DISEASES 7124 \| TNF \| 1.789 \| DISEASES 55504 \| TNFRSF19 \| 3.761 \| DISEASES
Locus	(Waiting for update.)

Disease ID	261
Disease	crimean-congo hemorrhagic fever
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0002239 \| Gastrointestinal hemorrhage HP:0012378 \| Fatigue HP:0002027 \| Abdominal pain HP:0000967 \| Petechiae HP:0003326 \| Myalgia HP:0001873 \| Thrombocytopenia HP:0001882 \| Leukopenia HP:0002014 \| Diarrhea HP:0002017 \| Nausea and vomiting HP:0100776 \| Recurrent pharyngitis HP:0000952 \| Jaundice HP:0000554 \| Uveitis HP:0000225 \| Gingival bleeding HP:0001945 \| Fever HP:0001397 \| Hepatic steatosis HP:0012735 \| Cough HP:0000988 \| Skin rash HP:0001892 \| Abnormal bleeding HP:0002910 \| Elevated hepatic transaminases HP:0000421 \| Epistaxis HP:0100749 \| Chest pain HP:0006543 \| Cardiorespiratory arrest HP:0002315 \| Headache
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001662 \| Bradycardia \| 4 HP:0001873 \| Low platelet count \| 3 HP:0003256 \| Coagulopathy \| 2 HP:0001082 \| Cholecystitis \| 1 HP:0002094 \| Dyspnea \| 1 HP:0001369 \| Arthritis \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0001939 \| Laboratory abnormality \| 1 HP:0001945 \| Fever \| 1 HP:0001892 \| Bleeding diathesis \| 1 HP:0002105 \| Hemoptysis \| 1 HP:0012156 \| Hemophagocytosis \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0002904 \| High blood bilirubin levels \| 1 HP:0011850 \| Parotitis \| 1 HP:0003281 \| Increased ferritin \| 1

Disease ID	261
Disease	crimean-congo hemorrhagic fever
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0019080 \| hemorrhage
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:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs179008	25879168	51284	TLR7	umls:C0019099	BeFree	Toll-like receptor 7 Gln11Leu, c.4-151A/G, and +1817G/T polymorphisms in Crimean Congo hemorrhagic fever.	0.000271442	2015	TLR7	X	12885540	A	C,T
rs386547285	20674764	54106	TLR9	umls:C0019099	BeFree	Our findings suggest that TLR8 Met1Val, TLR8 -129C/G, and TLR9 -1486T/C polymorphisms are important on clinical course of CCHF disease.	0.002638474	2010	NA	NA	NA	NA	NA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002910	Elevated hepatic transaminases	MP:0002628	hepatic steatosis	an accumulation of fat deposits in the liver
HP:0001892	Abnormal bleeding	MP:0005606	increased bleeding time	greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0002017	Nausea and vomiting	MP:0010426	abnormal heart and great artery attachment	any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0002239	Gastrointestinal hemorrhage	MP:0012305	umbilical cord hemorrhage	bleeding into or from the umbilical cord
HP:0000225	Gingival bleeding	MP:0005606	increased bleeding time	greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function

Mapped by homologous gene(Total Items:23)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012735	Cough	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:0002315	Headache	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001892	Abnormal bleeding	MP:0020138	delayed bone mineralization	late onset of the process by which minerals are deposited into bone
HP:0002239	Gastrointestinal hemorrhage	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001873	Thrombocytopenia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002014	Diarrhea	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002017	Nausea and vomiting	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000967	Petechiae	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0012378	Fatigue	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0000952	Jaundice	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001882	Leukopenia	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0000554	Uveitis	MP:0013501	increased fibroblast apoptosis	increase in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0002910	Elevated hepatic transaminases	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:0002027	Abdominal pain	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000421	Epistaxis	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001397	Hepatic steatosis	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:0100749	Chest pain	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0100776	Recurrent pharyngitis	MP:0013716	hypolactation	partial failure, or reduced ability to produce or secrete milk from the mammary gland
HP:0000225	Gingival bleeding	MP:0020186	altered susceptibility to bacterial infection	a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
HP:0006543	Cardiorespiratory arrest	MP:0011100	preweaning lethality, complete penetrance	death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0000988	Skin rash	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells

Disease ID	261
Disease	crimean-congo hemorrhagic fever
Case	(Waiting for update.)