PedAM

Pediatric Disease Annotations & Medicines


	epidermolysis bullosa dystrophica

Disease ID	806
Disease	epidermolysis bullosa dystrophica
Definition	Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Synonym	bullosa dystrophic epidermolysis bullosa dystrophica epidermolysis bullosa dystrophica, epidermolysis bullosa dystrophicas, epidermolysis bullosa, dystrophic epidermolysis bullosas, dystrophic epidermolysis deb - dystrophic epidermolysis bullosa dystrophic epidermolysis bullosa dystrophic epidermolysis bullosa (disorder) dystrophic epidermolysis bullosas dystrophica, epidermolysis bullosa dystrophicas, epidermolysis bullosa epidermolysis bullosa dystrophic epidermolysis bullosa dystrophica [disease/finding] epidermolysis bullosa dystrophicas epidermolysis bullosa, dystrophic epidermolysis bullosas, dystrophic
Orphanet	ORPHANET:303
DOID	DOID:4959
ICD10	ICD10CM:Q81.2
UMLS	C0079294
MeSH	D016108
SNOMED-CT	SNOMEDCT_US_2016_09_01:254185007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0155119 \| recurrent corneal erosion \| 1 C0155119 \| recurrent corneal erosions \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) MMP1 \| 4312 \| CTD_human COL7A1 \| 1294 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1294 \| COL7A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:74) 1634 \| DCN \| DISEASES 3691 \| ITGB4 \| DISEASES 266 \| AMELY \| DISEASES 55612 \| FERMT1 \| DISEASES 412 \| STS \| DISEASES 973 \| CD79A \| DISEASES 8985 \| PLOD3 \| DISEASES 1839 \| HBEGF \| DISEASES 7844 \| RNF103 \| DISEASES 7043 \| TGFB3 \| DISEASES 7130 \| TNFAIP6 \| DISEASES 667 \| DST \| DISEASES 7389 \| UROD \| DISEASES 3857 \| KRT9 \| DISEASES 4708 \| NDUFB2 \| DISEASES 3852 \| KRT5 \| DISEASES 3848 \| KRT1 \| DISEASES 324 \| APC \| DISEASES 4316 \| MMP7 \| DISEASES 4322 \| MMP13 \| DISEASES 28234 \| SLCO1B3 \| DISEASES 4069 \| LYZ \| DISEASES 5976 \| UPF1 \| DISEASES 3918 \| LAMC2 \| DISEASES 4811 \| NID1 \| DISEASES 80144 \| FRAS1 \| DISEASES 7168 \| TPM1 \| DISEASES 9180 \| OSMR \| DISEASES 319100 \| TAAR6 \| DISEASES 4319 \| MMP10 \| DISEASES 3176 \| HNMT \| DISEASES 341640 \| FREM2 \| DISEASES 63916 \| ELMO2 \| DISEASES 80155 \| NAA15 \| DISEASES 4314 \| MMP3 \| DISEASES 23524 \| SRRM2 \| DISEASES 43 \| ACHE \| DISEASES 649 \| BMP1 \| DISEASES 6579 \| SLCO1A2 \| DISEASES 3849 \| KRT2 \| DISEASES 4312 \| MMP1 \| DISEASES 5339 \| PLEC \| DISEASES 3909 \| LAMA3 \| DISEASES 259236 \| TMIE \| DISEASES 2200 \| FBN1 \| DISEASES 1294 \| COL7A1 \| DISEASES 166752 \| FREM3 \| DISEASES 1308 \| COL17A1 \| DISEASES 3146 \| HMGB1 \| DISEASES 378884 \| NHLRC1 \| DISEASES 3914 \| LAMB3 \| DISEASES 26151 \| NAT9 \| DISEASES 3713 \| IVL \| DISEASES 7390 \| UROS \| DISEASES 2312 \| FLG \| DISEASES 1810 \| DR1 \| DISEASES 4146 \| MATN1 \| DISEASES 10082 \| GPC6 \| DISEASES 51334 \| PRR16 \| DISEASES 4810 \| NHS \| DISEASES 265 \| AMELX \| DISEASES 158326 \| FREM1 \| DISEASES 347527 \| ARSH \| DISEASES 51429 \| SNX9 \| DISEASES 3426 \| CFI \| DISEASES 1781 \| DYNC1I2 \| DISEASES 3655 \| ITGA6 \| DISEASES 255743 \| NPNT \| DISEASES 6256 \| RXRA \| DISEASES 270 \| AMPD1 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 11012 \| KLK11 \| DISEASES 102723508 \| KANTR \| DISEASES 103752588 \| PACERR \| DISEASES
Locus	(Waiting for update.)

Disease ID	806
Disease	epidermolysis bullosa dystrophica
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002043 \| Esophageal stricture \| 2 HP:0000495 \| Recurrent corneal erosions \| 1 HP:0200020 \| Corneal erosion \| 1

Disease ID	806
Disease	epidermolysis bullosa dystrophica
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0014866 \| esophageal strictures \| 2

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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