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	epidermolysis bullosa

Disease ID	889
Disease	epidermolysis bullosa
Definition	Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Synonym	acantholysis bullosa acanthosis bullosa bullosa epidermolysis bullous recurrent eruption dermatitis bullosa hereditaria eb - epidermolysis bullosa epidermolysis bullosa (disorder) epidermolysis bullosa [disease/finding] epidermolysis bullosa, nos fox disease keratolysis bullosa hereditaria
DOID	DOID:2730
UMLS	C0014527
MeSH	D004820
SNOMED-CT	SNOMEDCT_US_2016_09_01:61003004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:41) C0026850 \| muscular dystrophy \| 14 C0007137 \| squamous cell carcinoma \| 9 C0878544 \| cardiomyopathy \| 7 C0007193 \| dilated cardiomyopathy \| 5 C0007137 \| squamous cell carcinomas \| 3 C0553723 \| cutaneous squamous cell carcinoma \| 3 C0020757 \| ichthyosis \| 2 C0079588 \| x-linked ichthyosis \| 2 C0002170 \| alopecia \| 2 C0030805 \| pemphigoid \| 1 C0022596 \| palmoplantar keratoderma \| 1 C0155119 \| recurrent corneal erosion \| 1 C0023075 \| laryngeal stenosis \| 1 C0003467 \| anxiety \| 1 C0029089 \| ophthalmoplegia \| 1 C0007114 \| skin cancer \| 1 C0002452 \| amelogenesis imperfecta \| 1 C0033860 \| psoriasis \| 1 C0029456 \| osteoporosis \| 1 C0751882 \| congenital myasthenic syndrome \| 1 C0549473 \| thyroid carcinoma \| 1 C0021831 \| enteropathy \| 1 C0002726 \| amyloidosis \| 1 C0011847 \| diabetes \| 1 C0013080 \| trisomy 21 \| 1 C0021390 \| inflammatory bowel disease \| 1 C0021831 \| bowel disease \| 1 C0700639 \| hypertrophic pyloric stenosis \| 1 C0007114 \| skin cancers \| 1 C0010346 \| crohn's disease \| 1 C0006142 \| breast cancer \| 1 C0268397 \| cutaneous amyloidosis \| 1 C0027962 \| melanocytic nevi \| 1 C0022972 \| myasthenic syndrome \| 1 C0007115 \| thyroid ca \| 1 C0023067 \| laryngitis \| 1 C0034194 \| pyloric stenosis \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0155119 \| recurrent corneal erosions \| 1 C0005745 \| ptosis \| 1 C0011849 \| diabetes mellitus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 1294 \| COL7A1 \| UniProtKB-KW;GHR 5339 \| PLEC \| UniProtKB-KW;GHR 3914 \| LAMB3 \| UniProtKB-KW;GHR 667 \| DST \| UniProtKB-KW 3691 \| ITGB4 \| CTD_human;UniProtKB-KW 1308 \| COL17A1 \| UniProtKB-KW;GHR 54800 \| KLHL24 \| UniProtKB-KW 1832 \| DSP \| UniProtKB-KW 977 \| CD151 \| UniProtKB-KW 3852 \| KRT5 \| UniProtKB-KW;GHR 3675 \| ITGA3 \| UniProtKB-KW 3918 \| LAMC2 \| UniProtKB-KW;GHR 23086 \| EXPH5 \| UniProtKB-KW 3909 \| LAMA3 \| UniProtKB-KW;GHR 3655 \| ITGA6 \| UniProtKB-KW 3861 \| KRT14 \| UniProtKB-KW;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 174 \| AFP \| 2.189 \| DISEASES 265 \| AMELX \| 1.332 \| DISEASES 142686 \| ASB14 \| 3.141 \| DISEASES 488 \| ATP2A2 \| 2.572 \| DISEASES 631 \| BFSP1 \| 1.502 \| DISEASES 977 \| CD151 \| 1.566 \| DISEASES 910 \| CD1B \| 1.757 \| DISEASES 959 \| CD40LG \| 1.99 \| DISEASES 960 \| CD44 \| 1.116 \| DISEASES 1041 \| CDSN \| 1.081 \| DISEASES 387836 \| CLEC2A \| 1.497 \| DISEASES 1307 \| COL16A1 \| 2.272 \| DISEASES 1308 \| COL17A1 \| 6.699 \| DISEASES 1287 \| COL4A5 \| 1.061 \| DISEASES 1288 \| COL4A6 \| 1.05 \| DISEASES 1294 \| COL7A1 \| 8.431 \| DISEASES 1500 \| CTNND1 \| 1.325 \| DISEASES 23109 \| DDN \| 1.486 \| DISEASES 79947 \| DHDDS \| 2.084 \| DISEASES 1747 \| DLX3 \| 1.287 \| DISEASES 1756 \| DMD \| 1.036 \| DISEASES 23234 \| DNAJC9 \| 2.541 \| DISEASES 1785 \| DNM2 \| 1.213 \| DISEASES 1810 \| DR1 \| 5.31 \| DISEASES 1832 \| DSP \| 3.16 \| DISEASES 11221 \| DUSP10 \| 1.419 \| DISEASES 10117 \| ENAM \| 1.742 \| DISEASES 54751 \| FBLIM1 \| 1.781 \| DISEASES 2213 \| FCGR2B \| 2.175 \| DISEASES 2312 \| FLG \| 2.971 \| DISEASES 2314 \| FLII \| 3.002 \| DISEASES 158326 \| FREM1 \| 1.465 \| DISEASES 166752 \| FREM3 \| 2.065 \| DISEASES 50486 \| G0S2 \| 1.234 \| DISEASES 728441 \| GGT2 \| 1.155 \| DISEASES 10082 \| GPC6 \| 1.563 \| DISEASES 84706 \| GPT2 \| 1.067 \| DISEASES 23426 \| GRIP1 \| 1.39 \| DISEASES 3320 \| HSP90AA1 \| 2.283 \| DISEASES 3339 \| HSPG2 \| 1.708 \| DISEASES 3655 \| ITGA6 \| 5.196 \| DISEASES 3713 \| IVL \| 2.014 \| DISEASES 3850 \| KRT3 \| 1.041 \| DISEASES 3853 \| KRT6A \| 2.593 \| DISEASES 3892 \| KRT86 \| 1.294 \| DISEASES 26013 \| L3MBTL1 \| 2.467 \| DISEASES 3909 \| LAMA3 \| 5.048 \| DISEASES 3914 \| LAMB3 \| 7.237 \| DISEASES 4146 \| MATN1 \| 2.56 \| DISEASES 4312 \| MMP1 \| 2.716 \| DISEASES 4318 \| MMP9 \| 1.581 \| DISEASES 26151 \| NAT9 \| 5.93 \| DISEASES 4810 \| NHS \| 2.666 \| DISEASES 255743 \| NPNT \| 1.824 \| DISEASES 5339 \| PLEC \| 6.71 \| DISEASES 51334 \| PRR16 \| 2.131 \| DISEASES 6464 \| SHC1 \| 1.059 \| DISEASES 283652 \| SLC24A5 \| 1.567 \| DISEASES 51429 \| SNX9 \| 1.383 \| DISEASES 54345 \| SOX18 \| 1.177 \| DISEASES 404203 \| SPINK6 \| 2.239 \| DISEASES 643394 \| SPINK9 \| 2.522 \| DISEASES 259236 \| TMIE \| 1.895 \| DISEASES 84000 \| TMPRSS13 \| 1.409 \| DISEASES 7114 \| TMSB4X \| 1.507 \| DISEASES 7106 \| TSPAN4 \| 1.043 \| DISEASES 7390 \| UROS \| 1.518 \| DISEASES 7453 \| WARS \| 1.956 \| DISEASES
Locus	(Waiting for update.)

Disease ID	889
Disease	epidermolysis bullosa
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:46) HP:0003560 \| Muscular dystrophy \| 14 HP:0002860 \| Squamous cell carcinoma \| 9 HP:0001070 \| Mottled pigmentation \| 8 HP:0001638 \| Cardiomyopathy \| 7 HP:0030731 \| Carcinoma \| 6 HP:0002043 \| Esophageal stricture \| 5 HP:0001644 \| Congestive cardiomyopathy \| 5 HP:0001057 \| Aplasia cutis congenita \| 2 HP:0004399 \| Congenital pyloric atresia \| 2 HP:0002015 \| Swallowing difficulty \| 2 HP:0000989 \| pruritis \| 2 HP:0007081 \| Late-onset muscular dystrophy \| 2 HP:0001596 \| Hair loss \| 2 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 2 HP:0008064 \| Ichthyosis \| 2 HP:0000705 \| Amelogenesis imperfecta \| 1 HP:0002224 \| Woolly hair \| 1 HP:0200020 \| Corneal erosion \| 1 HP:0002021 \| Pyloric stenosis \| 1 HP:0001602 \| Laryngeal stenosis \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1 HP:0040189 \| Desquamation \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0001030 \| Fragile skin \| 1 HP:0003765 \| Psoriasis \| 1 HP:0000982 \| Palmoplantar keratoderma \| 1 HP:0010783 \| Erythema \| 1 HP:0000495 \| Recurrent corneal erosions \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0001010 \| Hypopigmentation of the skin \| 1 HP:0004057 \| Mitten deformity \| 1 HP:0000739 \| Anxiety \| 1 HP:0000995 \| Beauty mark \| 1 HP:0200037 \| Skin vesicle \| 1 HP:0012309 \| Cutaneous amyloidosis \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0007383 \| Congenital localized absence of skin \| 1 HP:0002242 \| Enteropathy \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0012531 \| Pain \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0002890 \| Thyroid carcinoma \| 1 HP:0000823 \| Pubertal delay \| 1 HP:0003002 \| Breast carcinoma \| 1

Disease ID	889
Disease	epidermolysis bullosa
Manually Symptom	UMLS \| Name(Total Manually Symptoms:26) C2364133 \| infection C1963220 \| pulmonary hypertension C1963087 \| constipation C1546602 \| diverticulum C1000483 \| anemia C0878544 \| cardiomyopathy C0752303 \| urological manifestations C0266159 \| pyloric atresia C0262585 \| onychopathy C0037284 \| skin lesions C0031090 \| periodontal diseases C0029454 \| osteopetrosis C0029166 \| oral manifestations C0026850 \| muscular dystrophy C0026267 \| mitral valve prolapse C0018948 \| hematometra C0014866 \| esophageal strictures C0014866 \| esophageal stricture C0014866 \| esophageal stenosis C0013592 \| ectropion C0009373 \| colonic disease C0007137 \| squamous cell carcinomas C0007137 \| squamous cell carcinoma C0002871 \| anaemia C0002170 \| alopecia C0001883 \| airway obstruction
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0266159 \| pyloric atresia \| 18 C0026850 \| muscular dystrophy \| 14 C0007137 \| squamous cell carcinoma \| 8 C0878544 \| cardiomyopathy \| 7 C0014866 \| esophageal stricture \| 4 C0002170 \| alopecia \| 2 C0014866 \| esophageal strictures \| 1 C0007137 \| squamous cell carcinomas \| 1 C0037284 \| skin lesions \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
LAMA3	NM_198129.1:c.8302C>T:p.R2768X	doi:10.1038/gim.2016.37	Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	889
Disease	epidermolysis bullosa
Case	(Waiting for update.)

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