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	exophthalmos

Disease ID	907
Disease	exophthalmos
Definition	Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.
Synonym	anterior bulging of the globe anterior bulging of the globe of eye bulging eye bulging eyes exophthalmia exophthalmos (disorder) exophthalmos [disease/finding] exophthalmos nos exophthalmos, nos exophthalmos, unspecified exophthalmus eye displaced forwards eyeballs bulging out ocular proptosis proptoses proptosis proptosis, nos
DOID	DOID:9370
UMLS	C0015300
MeSH	D005094
SNOMED-CT	SNOMEDCT_US_2016_09_01:18265008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:61) C0012569 \| diplopia \| 5 C0339143 \| thyroid eye disease \| 4 C0015397 \| eye disease \| 4 C0339143 \| graves' ophthalmopathy \| 4 C0018021 \| goiter \| 3 C0339143 \| thyroid ophthalmopathy \| 2 C0040156 \| thyrotoxicosis \| 2 C0442874 \| neuropathy \| 2 C0393799 \| miller fisher syndrome \| 1 C0265294 \| metaphyseal dysplasia \| 1 C0018213 \| graves disease \| 1 C0018213 \| graves' disease \| 1 C0029132 \| optic neuropathy \| 1 C0235270 \| keratopathy \| 1 C0038379 \| strabismus \| 1 C0011649 \| dermoid cyst \| 1 C0015310 \| exotropia \| 1 C0547030 \| visual disturbance \| 1 C0001430 \| adenoma \| 1 C0032000 \| pituitary adenoma \| 1 C0238454 \| cavernous sinus thrombosis \| 1 C0021053 \| immune disease \| 1 C0015464 \| facial palsy \| 1 C0162674 \| chronic progressive external ophthalmoplegia \| 1 C0027145 \| myxedema \| 1 C0154733 \| multiple cranial nerve palsy \| 1 C0022354 \| obstructive jaundice \| 1 C0017601 \| glaucoma \| 1 C0393799 \| fisher syndrome \| 1 C0086543 \| cataract \| 1 C0035468 \| scleroma \| 1 C0009763 \| conjunctivitis \| 1 C0013990 \| emphysema \| 1 C0021359 \| infertility \| 1 C0342122 \| diffuse toxic goiter \| 1 C0039538 \| teratoma \| 1 C0014877 \| convergent strabismus \| 1 C0040053 \| thrombosis \| 1 C0015300 \| proptosis \| 1 C0026946 \| fungal infection \| 1 C0339143 \| graves ophthalmopathy \| 1 C0149507 \| orbital cellulitis \| 1 C0010273 \| crouzon syndrome \| 1 C0206717 \| esthesioneuroblastoma \| 1 C0037198 \| sinus thrombosis \| 1 C0029089 \| ophthalmoplegia \| 1 C0152227 \| epiphora \| 1 C0020550 \| hyperthyroidism \| 1 C0025286 \| meningiomas \| 1 C0005745 \| ptosis \| 1 C0020538 \| hypertension \| 1 C0040128 \| thyroid disease \| 1 C0015300 \| exophthalmos \| 1 C0547030 \| visual disturbances \| 1 C0078981 \| arachnoid cyst \| 1 C0151311 \| cranial nerve palsy \| 1 C0007642 \| cellulitis \| 1 C0265292 \| craniometaphyseal dysplasia \| 1 C0018213 \| basedow disease \| 1 C0008728 \| churg-strauss syndrome \| 1 C0339143 \| dysthyroid ophthalmopathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 348 \| APOE \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:80) 84890 \| ADO \| 1.004 \| DISEASES 270 \| AMPD1 \| 1.452 \| DISEASES 89839 \| ARHGAP11B \| 3.067 \| DISEASES 57492 \| ARID1B \| 1.42 \| DISEASES 171023 \| ASXL1 \| 2.65 \| DISEASES 126792 \| B3GALT6 \| 2.682 \| DISEASES 63827 \| BCAN \| 1.844 \| DISEASES 676 \| BRDT \| 2.011 \| DISEASES 796 \| CALCA \| 1.027 \| DISEASES 9332 \| CD163 \| 2.009 \| DISEASES 930 \| CD19 \| 1.736 \| DISEASES 959 \| CD40LG \| 1.364 \| DISEASES 966 \| CD59 \| 1.587 \| DISEASES 4267 \| CD99 \| 2.942 \| DISEASES 1108 \| CHD4 \| 1.698 \| DISEASES 1139 \| CHRNA7 \| 1.188 \| DISEASES 1186 \| CLCN7 \| 2.247 \| DISEASES 1305 \| COL13A1 \| 2.561 \| DISEASES 64764 \| CREB3L2 \| 1.781 \| DISEASES 10491 \| CRTAP \| 1.743 \| DISEASES 1718 \| DHCR24 \| 1.188 \| DISEASES 81704 \| DOCK8 \| 2.293 \| DISEASES 23644 \| EDC4 \| 1.79 \| DISEASES 2130 \| EWSR1 \| 1.498 \| DISEASES 56975 \| FAM20C \| 2.672 \| DISEASES 22909 \| FAN1 \| 1.957 \| DISEASES 115352 \| FCRL3 \| 1.382 \| DISEASES 2260 \| FGFR1 \| 2.597 \| DISEASES 2263 \| FGFR2 \| 5.213 \| DISEASES 2261 \| FGFR3 \| 2.804 \| DISEASES 2316 \| FLNA \| 2.042 \| DISEASES 2317 \| FLNB \| 1.287 \| DISEASES 2764 \| GMFB \| 1.634 \| DISEASES 3039 \| HBA1 \| 1.923 \| DISEASES 3052 \| HCCS \| 1.315 \| DISEASES 3105 \| HLA-A \| 1.607 \| DISEASES 3106 \| HLA-B \| 1.078 \| DISEASES 3590 \| IL11RA \| 2.317 \| DISEASES 284359 \| IZUMO1 \| 1.828 \| DISEASES 58494 \| JAM2 \| 2.104 \| DISEASES 3735 \| KARS \| 1.529 \| DISEASES 3767 \| KCNJ11 \| 1.273 \| DISEASES 3886 \| KRT35 \| 2.138 \| DISEASES 3855 \| KRT7 \| 1.476 \| DISEASES 54900 \| LAX1 \| 1.774 \| DISEASES 348120 \| LINC01193 \| 1.328 \| DISEASES 55777 \| MBD5 \| 1.467 \| DISEASES 4153 \| MBL2 \| 1.609 \| DISEASES 2315 \| MLANA \| 1.561 \| DISEASES 4311 \| MME \| 1.732 \| DISEASES 54893 \| MTMR10 \| 3.03 \| DISEASES 25821 \| MTO1 \| 1.837 \| DISEASES 100288485 \| MTRNR2L7 \| 2.598 \| DISEASES 4763 \| NF1 \| 3.976 \| DISEASES 4771 \| NF2 \| 1.419 \| DISEASES 56953 \| NT5M \| 1.187 \| DISEASES 55742 \| PARVA \| 1.777 \| DISEASES 5324 \| PLAG1 \| 1.301 \| DISEASES 29122 \| PRSS50 \| 2.063 \| DISEASES 9939 \| RBM8A \| 1.647 \| DISEASES 112724 \| RDH13 \| 3.316 \| DISEASES 83695 \| RHNO1 \| 4.527 \| DISEASES 862 \| RUNX1T1 \| 2.165 \| DISEASES 83482 \| SCRT1 \| 1.371 \| DISEASES 5270 \| SERPINE2 \| 1.085 \| DISEASES 6594 \| SMARCA1 \| 1.833 \| DISEASES 23583 \| SMUG1 \| 2.12 \| DISEASES 29887 \| SNX10 \| 2.234 \| DISEASES 55553 \| SOX6 \| 1.529 \| DISEASES 6693 \| SPN \| 1.768 \| DISEASES 6345 \| SRL \| 2.052 \| DISEASES 63826 \| SRR \| 1.044 \| DISEASES 6753 \| SSTR3 \| 1.378 \| DISEASES 6861 \| SYT5 \| 3.066 \| DISEASES 7020 \| TFAP2A \| 1.047 \| DISEASES 29844 \| TFPT \| 2.591 \| DISEASES 51337 \| THEM6 \| 1.689 \| DISEASES 8718 \| TNFRSF25 \| 2.682 \| DISEASES 4308 \| TRPM1 \| 1.465 \| DISEASES 7321 \| UBE2D1 \| 3.447 \| DISEASES
Locus	(Waiting for update.)

Disease ID	907
Disease	exophthalmos
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:70) HP:0012531 \| Pain \| 8 HP:0012375 \| Chemosis \| 8 HP:0000969 \| Dropsy \| 5 HP:0000651 \| Diplopia \| 5 HP:0002664 \| Neoplasia \| 4 HP:0000586 \| Shallow orbits \| 4 HP:0000853 \| Goitre \| 3 HP:0000572 \| Visual loss \| 3 HP:0000602 \| Ophthalmoplegia \| 2 HP:0100540 \| Swelling of eyelids \| 2 HP:0000248 \| Brachycephaly \| 2 HP:0002097 \| Pulmonary emphysema \| 2 HP:0000421 \| Bloody nose \| 2 HP:0000520 \| Anterior bulging of the globe of eye \| 2 HP:0100539 \| Periorbital swelling \| 2 HP:0007824 \| Total ophthalmoplegia \| 2 HP:0007663 \| Central visual loss \| 2 HP:0000316 \| Increased distance between eye sockets \| 2 HP:0000276 \| Long face \| 1 HP:0007687 \| Unilateral ptosis \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0009792 \| Teratoma \| 1 HP:0000577 \| Exotropia \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0000622 \| Blurred vision \| 1 HP:0003712 \| Hypertrophic muscles \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0007807 \| Optic nerve compression \| 1 HP:0000518 \| Cataract \| 1 HP:0001742 \| Obstruction of nose \| 1 HP:0009926 \| Epiphora \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0000789 \| Infertility \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0100255 \| Metaphyseal dysplasia \| 1 HP:0007957 \| Corneal clouding \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0010783 \| Erythema \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000952 \| Yellow skin \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002315 \| Headaches \| 1 HP:0000282 \| Facial puffiness \| 1 HP:0004406 \| Recurrent epistaxes \| 1 HP:0009903 \| Conjunctival nodule \| 1 HP:0005280 \| Flat, nasal bridge \| 1 HP:0011225 \| Epiblepharon \| 1 HP:0007115 \| Orbital encephalocele \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0004425 \| Flattened forehead \| 1 HP:0000280 \| Coarse facial features \| 1 HP:0001945 \| Fever \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1 HP:0000565 \| Inward turning of one or both eyes \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0000822 \| Hypertension \| 1 HP:0000188 \| Shortening of upper lip \| 1 HP:0002084 \| Bifid skull \| 1 HP:0004439 \| Crouzon syndrome \| 1 HP:0000544 \| CPEO \| 1 HP:0009603 \| Displacement of the thumb \| 1 HP:0000486 \| Squint eyes \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0100647 \| Morbus Basedow \| 1 HP:0200026 \| Ocular pain \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0002007 \| Frontal protruberance \| 1 HP:0000509 \| Conjunctivitis \| 1

Disease ID	907
Disease	exophthalmos
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C0149782 \| squamous cell carcinoma of the lung C0040156 \| thyrotoxicosis C0036454 \| visual field defects C0028840 \| ocular hypertension C0027145 \| myxedema C0020903 \| illusion C0020550 \| hyperthyroidism C0018213 \| graves' disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0020550 \| hyperthyroidism \| 1 C0027145 \| myxedema \| 1 C0010043 \| corneal ulceration \| 1 C0018213 \| graves' disease \| 1 C0040156 \| thyrotoxicosis \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918499	24036790	2263	FGFR2	umls:C0015300	BeFree	FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III.	0.000814326	2014	FGFR2	10	121520048	C	G,A

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	907
Disease	exophthalmos
Case	(Waiting for update.)

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