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encyclopedia of Rare Disease Annotation for Precision Medicine

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	dentinogenesis imperfecta

Disease ID	888
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 \| 6 C0031106 \| juvenile periodontitis \| 1 C0031099 \| periodontitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1834 \| DSPP \| CTD_human;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:29) 1645 \| AKR1C1 \| 1.237 \| DISEASES 249 \| ALPL \| 1.335 \| DISEASES 265 \| AMELX \| 3.404 \| DISEASES 633 \| BGN \| 3.415 \| DISEASES 1280 \| COL2A1 \| 1.918 \| DISEASES 10491 \| CRTAP \| 4.189 \| DISEASES 1747 \| DLX3 \| 3.806 \| DISEASES 1758 \| DMP1 \| 4.254 \| DISEASES 10117 \| ENAM \| 4.117 \| DISEASES 148753 \| FAM163A \| 3.767 \| DISEASES 2224 \| FDPS \| 1.353 \| DISEASES 2248 \| FGF3 \| 1.653 \| DISEASES 2638 \| GC \| 2.051 \| DISEASES 3109 \| HLA-DMB \| 1.751 \| DISEASES 387733 \| IFITM5 \| 4.167 \| DISEASES 9622 \| KLK4 \| 1.832 \| DISEASES 56955 \| MEPE \| 3.735 \| DISEASES 64386 \| MMP25 \| 3.818 \| DISEASES 4487 \| MSX1 \| 3.523 \| DISEASES 5083 \| PAX9 \| 2.99 \| DISEASES 5358 \| PLS3 \| 2.136 \| DISEASES 6023 \| RMRP \| 2.058 \| DISEASES 26054 \| SENP6 \| 2.86 \| DISEASES 871 \| SERPINH1 \| 2.781 \| DISEASES 6696 \| SPP1 \| 3.346 \| DISEASES 55151 \| TMEM38B \| 3.284 \| DISEASES 7227 \| TRPS1 \| 2.157 \| DISEASES 7286 \| TUFT1 \| 2.897 \| DISEASES 7390 \| UROS \| 1.652 \| DISEASES
Locus	(Waiting for update.)

Disease ID	888
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:0000704 \| Pyorrhea \| 1 HP:0002659 \| Increased tendency to fractures \| 1

Disease ID	888
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 \| 7

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:0)
(Waiting for update.)

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

Disease ID	888
Disease	dentinogenesis imperfecta
Case	(Waiting for update.)

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