PedAM

Pediatric Disease Annotations & Medicines


	dentinogenesis imperfecta

Disease ID	555
Disease	dentinogenesis imperfecta
Definition	An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
Synonym	dentinogenesis imperfecta (disorder) dentinogenesis imperfecta (disorder) [ambiguous] dentinogenesis imperfecta [disease/finding] dentinogenesis imperfecta [dup] dentinogenesis imperfecta [dup] (disorder) imperfecta, dentinogenesis
Orphanet	ORPHANET:49042
DOID	DOID:4154
UMLS	C0011436
MeSH	D003811
SNOMED-CT	SNOMEDCT_US_2016_09_01:196286005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0029434 \| osteogenesis imperfecta \| 8 C0031106 \| juvenile periodontitis \| 1 C0031099 \| periodontitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) DSPP \| 1834 \| CTD_human;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:67) 1634 \| DCN \| DISEASES 7092 \| TLL1 \| DISEASES 27248 \| ERLEC1 \| DISEASES 2099 \| ESR1 \| DISEASES 266 \| AMELY \| DISEASES 55512 \| SMPD3 \| DISEASES 1311 \| COMP \| DISEASES 1277 \| COL1A1 \| DISEASES 3381 \| IBSP \| DISEASES 4224 \| MEP1A \| DISEASES 4488 \| MSX2 \| DISEASES 652 \| BMP4 \| DISEASES 51119 \| SBDS \| DISEASES 5176 \| SERPINF1 \| DISEASES 80326 \| WNT10A \| DISEASES 9313 \| MMP20 \| DISEASES 23314 \| SATB2 \| DISEASES 51726 \| DNAJB11 \| DISEASES 3371 \| TNC \| DISEASES 4225 \| MEP1B \| DISEASES 8915 \| BCL10 \| DISEASES 9871 \| SEC24D \| DISEASES 23657 \| SLC7A11 \| DISEASES 1834 \| DSPP \| DISEASES 4325 \| MMP16 \| DISEASES 7471 \| WNT1 \| DISEASES 5500 \| PPP1CB \| DISEASES 1278 \| COL1A2 \| DISEASES 5479 \| PPIB \| DISEASES 8313 \| AXIN2 \| DISEASES 121340 \| SP7 \| DISEASES 5308 \| PITX2 \| DISEASES 649 \| BMP1 \| DISEASES 3265 \| HRAS \| DISEASES 27243 \| CHMP2A \| DISEASES 2250 \| FGF5 \| DISEASES 258 \| AMBN \| DISEASES 60681 \| FKBP10 \| DISEASES 10491 \| CRTAP \| DISEASES 9622 \| KLK4 \| DISEASES 633 \| BGN \| DISEASES 2248 \| FGF3 \| DISEASES 64386 \| MMP25 \| DISEASES 1758 \| DMP1 \| DISEASES 5358 \| PLS3 \| DISEASES 2224 \| FDPS \| DISEASES 871 \| SERPINH1 \| DISEASES 56955 \| MEPE \| DISEASES 148753 \| FAM163A \| DISEASES 5083 \| PAX9 \| DISEASES 7390 \| UROS \| DISEASES 7286 \| TUFT1 \| DISEASES 55151 \| TMEM38B \| DISEASES 249 \| ALPL \| DISEASES 1280 \| COL2A1 \| DISEASES 265 \| AMELX \| DISEASES 1645 \| AKR1C1 \| DISEASES 387733 \| IFITM5 \| DISEASES 4487 \| MSX1 \| DISEASES 6696 \| SPP1 \| DISEASES 7227 \| TRPS1 \| DISEASES 10117 \| ENAM \| DISEASES 1747 \| DLX3 \| DISEASES 3109 \| HLA-DMB \| DISEASES 26054 \| SENP6 \| DISEASES 2638 \| GC \| DISEASES 6023 \| RMRP \| DISEASES
Locus	(Waiting for update.)

Disease ID	555
Disease	dentinogenesis imperfecta
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000592 \| Bluish sclerae \| 2 HP:0006480 \| Premature loss of teeth \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0000704 \| Pyorrhea \| 1

Disease ID	555
Disease	dentinogenesis imperfecta
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0277792 \| pathognomonic sign C0029434 \| osteogenesis imperfecta C0002452 \| amelogenesis imperfecta
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0029434 \| osteogenesis imperfecta \| 8

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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