eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	fibrous dysplasia

Disease ID	1392
Disease	fibrous dysplasia
Definition	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.
Synonym	dysplasia fibrous dysplasias fibrous fibrous dyplasia fibrous dyplasia (disorder) fibrous dysplasia (disorder) jaffe-lichtenstein syndrome
DOID	DOID:0080031
UMLS	C0259779
SNOMED-CT	SNOMEDCT_US_2016_09_01:254145001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0242292 \| albright syndrome \| 6 C0242292 \| mccune-albright syndrome \| 5 C0242292 \| mccune albright syndrome \| 3 C0017547 \| gigantism \| 1 C0015464 \| facial palsy \| 1 C0005940 \| bone disease \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0018552 \| hamartomas \| 1 C0029401 \| paget's disease \| 1 C0034013 \| sexual precocity \| 1 C0020502 \| hyperparathyroidism \| 1 C0036454 \| visual field defects \| 1 C0029463 \| osteosarcoma \| 1 C0008479 \| chondrosarcoma \| 1 C0032000 \| pituitary adenoma \| 1 C0346302 \| growth hormone-secreting pituitary adenoma \| 1 C0029423 \| osteochondroma \| 1 C0442874 \| neuropathy \| 1 C0034735 \| raynaud's phenomenon \| 1 C0032000 \| pituitary adenomas \| 1 C0036439 \| scoliosis \| 1 C0008924 \| cleft lip \| 1 C0029882 \| otitis media \| 1 C0002448 \| adamantinoma \| 1 C0036454 \| visual field defect \| 1 C0016045 \| fibromas \| 1 C0001206 \| acromegaly \| 1 C1261473 \| sarcoma \| 1 C0016045 \| fibroma \| 1 C0020550 \| hyperthyroidism \| 1 C0022578 \| keratoconus \| 1 C0029132 \| optic neuropathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8074 \| FGF23 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 10551 \| AGR2 \| 1.451 \| DISEASES 1645 \| AKR1C1 \| 1.046 \| DISEASES 257 \| ALX3 \| 1.378 \| DISEASES 367 \| AR \| 1.327 \| DISEASES 4287 \| ATXN3 \| 1.529 \| DISEASES 632 \| BGLAP \| 3.401 \| DISEASES 650 \| BMP2 \| 1.24 \| DISEASES 796 \| CALCA \| 2.258 \| DISEASES 800 \| CALD1 \| 1.832 \| DISEASES 23066 \| CAND2 \| 1.779 \| DISEASES 79577 \| CDC73 \| 1.837 \| DISEASES 64764 \| CREB3L2 \| 2.592 \| DISEASES 1499 \| CTNNB1 \| 1.789 \| DISEASES 192668 \| CYS1 \| 1.798 \| DISEASES 1825 \| DSC3 \| 1.334 \| DISEASES 389549 \| FEZF1 \| 1.839 \| DISEASES 2253 \| FGF8 \| 1.186 \| DISEASES 2260 \| FGFR1 \| 1.695 \| DISEASES 342184 \| FMN1 \| 1.51 \| DISEASES 2591 \| GALNT3 \| 2.133 \| DISEASES 2778 \| GNAS \| 6.607 \| DISEASES 10457 \| GPNMB \| 1.428 \| DISEASES 3161 \| HMMR \| 1.35 \| DISEASES 3360 \| HTR4 \| 1.014 \| DISEASES 3725 \| JUN \| 1.43 \| DISEASES 9735 \| KNTC1 \| 1.274 \| DISEASES 7044 \| LEFTY2 \| 2.111 \| DISEASES 100885779 \| LINC-ROR \| 1.161 \| DISEASES 4193 \| MDM2 \| 2.804 \| DISEASES 56955 \| MEPE \| 1.63 \| DISEASES 4487 \| MSX1 \| 1.307 \| DISEASES 4763 \| NF1 \| 1.55 \| DISEASES 93034 \| NT5C1B \| 2.185 \| DISEASES 23089 \| PEG10 \| 1.459 \| DISEASES 5251 \| PHEX \| 1.297 \| DISEASES 5573 \| PRKAR1A \| 3.021 \| DISEASES 51334 \| PRR16 \| 1.985 \| DISEASES 5745 \| PTH1R \| 3.917 \| DISEASES 8437 \| RASAL1 \| 3.185 \| DISEASES 860 \| RUNX2 \| 2.868 \| DISEASES 6424 \| SFRP4 \| 1.438 \| DISEASES 6452 \| SH3BP2 \| 3.756 \| DISEASES 9467 \| SH3BP5 \| 1.354 \| DISEASES 6569 \| SLC34A1 \| 1.89 \| DISEASES 23583 \| SMUG1 \| 3.469 \| DISEASES 6696 \| SPP1 \| 1.315 \| DISEASES 8878 \| SQSTM1 \| 1.122 \| DISEASES 6916 \| TBXAS1 \| 1.084 \| DISEASES 8792 \| TNFRSF11A \| 1.716 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1392
Disease	fibrous dysplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0012063 \| Aneurysmal bone cyst \| 7 HP:0012062 \| Bone cysts \| 7 HP:0012531 \| Pain \| 4 HP:0002664 \| Neoplasia \| 2 HP:0007807 \| Optic nerve compression \| 2 HP:0002650 \| Scoliosis \| 2 HP:0000324 \| Asymmetry of face \| 1 HP:0030431 \| Osteochondromas \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0000388 \| Otitis media \| 1 HP:0030880 \| Raynaud phenomenon \| 1 HP:0100242 \| Sarcoma \| 1 HP:0002754 \| Bone infection \| 1 HP:0002315 \| Headaches \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0100246 \| Osteoma \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0000572 \| Visual loss \| 1 HP:0010614 \| Fibroma \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0002757 \| Multiple fractures \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0000563 \| Conical cornea \| 1 HP:0000389 \| Chronic otitis media \| 1 HP:0100333 \| Unilateral cheiloschisis \| 1

Disease ID	1392
Disease	fibrous dysplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:28) C2697383 \| osteosarcoma C2632116 \| stenosis C2598155 \| pain C1963180 \| neck pain C1608408 \| malignant transformation C1414542 \| marfan syndrome C1367554 \| adamantinoma C1334260 \| intramuscular myxoma C1261473 \| sarcoma C0752149 \| intractable headache C0700208 \| scoliosis C0456909 \| vision loss C0271344 \| optic nerve compression C0221391 \| melanosis C0152244 \| aneurysmal bone cyst C0078981 \| arachnoid cyst C0042170 \| harada's disease C0029463 \| osteosarcomas C0029442 \| osteomalacia C0029441 \| osteoid osteoma C0027149 \| myxomas C0027149 \| myxoma C0026683 \| mucocele C0020502 \| hyperparathyroidism C0018923 \| angiosarcoma C0015300 \| proptosis C0008479 \| chondrosarcoma C0008029 \| cherubism
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C0152244 \| aneurysmal bone cyst \| 7 C0027149 \| myxomas \| 7 C1334260 \| intramuscular myxoma \| 7 C1608408 \| malignant transformation \| 6 C0027149 \| myxoma \| 4 C0030193 \| pain \| 4 C0026683 \| mucocele \| 2 C0271344 \| optic nerve compression \| 2 C0036439 \| scoliosis \| 2 C1261473 \| sarcoma \| 1 C0008029 \| cherubism \| 1 C0029463 \| osteosarcoma \| 1 C0002448 \| adamantinoma \| 1 C0008479 \| chondrosarcoma \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913495	22450860	2778	GNAS	umls:C0259779	BeFree	We confirmed the results in FD lesion-derived BMSCs and observed that the impaired osteogenesis potential of BMSCs infected with lentivirus GNAS (R201H) was recovered in vitro through modulation of the CREB-Smad6-Runx2 axis.	0.00868614	2012	GNAS	20	58909366	G	A,T
rs121913495	25118809	2778	GNAS	umls:C0259779	BeFree	The lesions were tested for the R201H mutation in the GNAS gene, which is present in fibrous dysplasia.	0.00868614	2014	GNAS	20	58909366	G	A,T

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	1392
Disease	fibrous dysplasia
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter