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encyclopedia of Rare Disease Annotation for Precision Medicine

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	eosinophilic fasciitis

Disease ID	885
Disease	eosinophilic fasciitis
Definition	Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils.(NICHD)
Synonym	eosinophilic fasciitis (disorder) fasciitis eosinophilic fasciitis with eosinophilia syndrome fasciitis with eosinophilia syndrome (disorder) fasciitis, eosinophilic shulman syndrome shulman's syndrome
Orphanet	ORPHANET:3165
OMIM	OMIM:226350
UMLS	C0264005
SNOMED-CT	SNOMEDCT_US_2016_09_01:24129002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C1527383 \| morphea \| 3 C0002874 \| aplastic anemia \| 1 C0206141 \| hypereosinophilic syndrome \| 1 C0027121 \| myositis \| 1 C0002871 \| anemia \| 1 C0030567 \| parkinson's syndrome \| 1 C0206141 \| idiopathic hypereosinophilic syndrome \| 1 C0026934 \| mycoplasma \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	885
Disease	eosinophilic fasciitis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0002829 \| Arthralgia HP:0003401 \| Paresthesia HP:0012733 \| Macule HP:0003326 \| Myalgia HP:0045029 \| Eosinophilic fasciitis HP:0100658 \| Cellulitis HP:0001369 \| Arthritis HP:0012378 \| Fatigue HP:0100537 \| Fasciitis HP:0001482 \| Subcutaneous nodule HP:0001824 \| Weight loss HP:0001063 \| Acrocyanosis HP:0100748 \| Muscular edema HP:0001879 \| Abnormality of eosinophils HP:0100614 \| Myositis HP:0001880 \| Eosinophilia HP:0000969 \| Edema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0012344 \| Morphea \| 3 HP:0001915 \| Aplastic anemia \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0001903 \| Anemia \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1

Disease ID	885
Disease	eosinophilic fasciitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C2700513 \| aplastic anemia C1963211 \| pericarditis C1839611 \| n syndrome C1456822 \| claudication C0497156 \| lymphadenopathy C0442874 \| neuropathy C0155765 \| microangiopathy C0085655 \| polymyositis C0041349 \| tubulointerstitial nephritis C0041321 \| miliary tuberculosis C0031117 \| peripheral neuropathy C0027947 \| neutropenia C0027121 \| myositis C0020758 \| ichthyosis C0018939 \| haematological disorders C0017661 \| iga nephropathy C0007286 \| carpal tunnel syndrome C0002880 \| autoimmune hemolytic anemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0002874 \| aplastic anemia \| 1 C0027121 \| myositis \| 1

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:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001879	Abnormality of eosinophils	MP:0012167	abnormal epigenetic regulation of gene expression	any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100614	Myositis	MP:0011635	abnormal mitochondrial crista morphology	Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe
HP:0001880	Eosinophilia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000969	Edema	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001879	Abnormality of eosinophils	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001063	Acrocyanosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003401	Paresthesia	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:0100658	Cellulitis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001482	Subcutaneous nodule	MP:0013542	abnormal submandibular gland branching morphogenesis
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

Disease ID	885
Disease	eosinophilic fasciitis
Case	(Waiting for update.)

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