PedAM

Pediatric Disease Annotations & Medicines


	retinitis

Disease ID	1040
Disease	retinitis
Definition	Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis).
Synonym	retinitis (disorder) retinitis [disease/finding] retinitis nos retinitis nos (disorder) retinitis, nos swelling of the retina
DOID	DOID:3612
UMLS	C0035333
MeSH	D012173
SNOMED-CT	SNOMEDCT_US_2016_09_01:399463004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:95) C0271051 \| macular edema \| 14 C0456909 \| blindness \| 13 C0024440 \| cystoid macular edema \| 13 C0456909 \| vision loss \| 11 C0001175 \| acquired immunodeficiency syndrome \| 10 C0086543 \| cataract \| 6 C0004134 \| ataxia \| 5 C0024441 \| macular hole \| 4 C0042384 \| vasculitis \| 3 C0001175 \| acquired immunodeficiency syndrome (aids) \| 3 C0042164 \| uveitis \| 3 C0271051 \| macular oedema \| 3 C0008526 \| choroiditis \| 2 C0024440 \| cystoid macular oedema \| 2 C0030343 \| panuveitis \| 2 C0042769 \| virus infection \| 2 C0018784 \| sensorineural hearing loss \| 2 C0001175 \| acquired immune deficiency syndrome \| 2 C0035304 \| retinal degeneration \| 2 C0035309 \| retinopathy \| 2 C0034951 \| refractive error \| 2 C0001175 \| acquired immune deficiency \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0035305 \| retinal detachment \| 2 C0011847 \| diabetes \| 2 C0152026 \| retinal vasculitis \| 2 C0409974 \| lupus erythematosus \| 2 C0011570 \| depression \| 2 C0015458 \| hemifacial atrophy \| 1 C0008049 \| varicella \| 1 C0004106 \| astigmatism \| 1 C0042164 \| intraocular inflammation \| 1 C0019829 \| hodgkin lymphoma \| 1 C0017601 \| glaucoma \| 1 C0036416 \| scleritis \| 1 C0018552 \| hamartomas \| 1 C0268125 \| purine nucleoside phosphorylase deficiency \| 1 C0019360 \| zoster \| 1 C0040188 \| tic disorders \| 1 C0687120 \| nephronophthisis \| 1 C0021655 \| insulin resistance syndrome \| 1 C0006267 \| bronchiectasis \| 1 C0041696 \| major depressive disorder \| 1 C0271097 \| usher syndrome \| 1 C0035302 \| retinal artery occlusion \| 1 C0268125 \| nucleoside phosphorylase deficiency \| 1 C0042373 \| vascular disorders \| 1 C0221027 \| good's syndrome \| 1 C0003864 \| arthritis \| 1 C0152112 \| foster kennedy syndrome \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0031542 \| phlebitis \| 1 C0028242 \| nocardiosis \| 1 C0339527 \| leber congenital amaurosis \| 1 C0029134 \| optic neuritis \| 1 C0547030 \| visual disturbance \| 1 C0029124 \| optic atrophy \| 1 C0019158 \| hepatitis \| 1 C0024441 \| macular holes \| 1 C0042769 \| viral illness \| 1 C0031538 \| phimosis \| 1 C0034951 \| refractive errors \| 1 C0005745 \| ptosis \| 1 C0026764 \| multiple myeloma \| 1 C0752166 \| bardet-biedl syndrome \| 1 C0206744 \| idiopathic cd4+ t lymphocytopenia \| 1 C0010036 \| corneal dystrophy \| 1 C0009319 \| colitis \| 1 C0023418 \| leukemia \| 1 C0007688 \| central retinal artery occlusion \| 1 C0043092 \| wegener's granulomatosis \| 1 C0700635 \| spondylometaphyseal dysplasia \| 1 C0022658 \| kidney disease \| 1 C0431399 \| joubert syndrome \| 1 C0027092 \| myopia \| 1 C0018784 \| sensorineural deafness \| 1 C0036220 \| kaposi's sarcoma \| 1 C0027813 \| neuritis \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0029132 \| optic neuropathy \| 1 C0036202 \| sarcoidosis \| 1 C0085669 \| acute leukemia \| 1 C0009324 \| ulcerative colitis \| 1 C0032285 \| pneumonia \| 1 C0018179 \| granular corneal dystrophy \| 1 C0013595 \| eczema \| 1 C0042373 \| vascular disorder \| 1 C0206744 \| cd4+ t lymphocytopenia \| 1 C0001175 \| acquired immune deficiency syndrome (aids) \| 1 C0015458 \| progressive hemifacial atrophy \| 1 C0003873 \| rheumatoid arthritis \| 1 C0155550 \| neural deafness \| 1 C0265294 \| metaphyseal dysplasia \| 1 C0022679 \| cystic kidney \| 1 C0036454 \| visual field loss \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CRH \| 1392 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:126) 6376 \| CX3CL1 \| DISEASES 920 \| CD4 \| DISEASES 55359 \| STYK1 \| DISEASES 7132 \| TNFRSF1A \| DISEASES 11035 \| RIPK3 \| DISEASES 2137 \| EXTL3 \| DISEASES 973 \| CD79A \| DISEASES 7036 \| TFR2 \| DISEASES 5949 \| RBP3 \| DISEASES 1440 \| CSF3 \| DISEASES 6347 \| CCL2 \| DISEASES 5957 \| RCVRN \| DISEASES 3558 \| IL2 \| DISEASES 3587 \| IL10RA \| DISEASES 3458 \| IFNG \| DISEASES 2597 \| GAPDH \| DISEASES 55907 \| CMAS \| DISEASES 55856 \| ACOT13 \| DISEASES 3565 \| IL4 \| DISEASES 5967 \| REG1A \| DISEASES 5657 \| PRTN3 \| DISEASES 84329 \| HVCN1 \| DISEASES 8195 \| MKKS \| DISEASES 9104 \| RGN \| DISEASES 6538 \| SLC6A11 \| DISEASES 9038 \| TAAR5 \| DISEASES 3569 \| IL6 \| DISEASES 2995 \| GYPC \| DISEASES 8737 \| RIPK1 \| DISEASES 10017 \| BCL2L10 \| DISEASES 6121 \| RPE65 \| DISEASES 64135 \| IFIH1 \| DISEASES 55850 \| USE1 \| DISEASES 943 \| TNFRSF8 \| DISEASES 10686 \| CLDN16 \| DISEASES 80321 \| CEP70 \| DISEASES 4885 \| NPTX2 \| DISEASES 939 \| CD27 \| DISEASES 60314 \| C12orf10 \| DISEASES 6017 \| RLBP1 \| DISEASES 3454 \| IFNAR1 \| DISEASES 3930 \| LBR \| DISEASES 6529 \| SLC6A1 \| DISEASES 56896 \| DPYSL5 \| DISEASES 8566 \| PDXK \| DISEASES 729230 \| CCR2 \| DISEASES 1234 \| CCR5 \| DISEASES 213 \| ALB \| DISEASES 6010 \| RHO \| DISEASES 149461 \| CLDN19 \| DISEASES 8819 \| SAP30 \| DISEASES 9607 \| CARTPT \| DISEASES 1437 \| CSF2 \| DISEASES 9655 \| SOCS5 \| DISEASES 3627 \| CXCL10 \| DISEASES 56246 \| MRAP \| DISEASES 57521 \| RPTOR \| DISEASES 27289 \| RND1 \| DISEASES 29984 \| RHOD \| DISEASES 947 \| CD34 \| DISEASES 8884 \| SLC5A6 \| DISEASES 27243 \| CHMP2A \| DISEASES 8837 \| CFLAR \| DISEASES 8411 \| EEA1 \| DISEASES 9520 \| NPEPPS \| DISEASES 26121 \| PRPF31 \| DISEASES 8651 \| SOCS1 \| DISEASES 84679 \| SLC9A7 \| DISEASES 9021 \| SOCS3 \| DISEASES 83482 \| SCRT1 \| DISEASES 148738 \| HFE2 \| DISEASES 9094 \| UNC119 \| DISEASES 3266 \| ERAS \| DISEASES 6540 \| SLC6A13 \| DISEASES 3605 \| IL17A \| DISEASES 331 \| XIAP \| DISEASES 8764 \| TNFRSF14 \| DISEASES 841 \| CASP8 \| DISEASES 405 \| ARNT \| DISEASES 6539 \| SLC6A12 \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 7058 \| THBS2 \| DISEASES 7042 \| TGFB2 \| DISEASES 356 \| FASLG \| DISEASES 153 \| ADRB1 \| DISEASES 959 \| CD40LG \| DISEASES 10479 \| SLC9A6 \| DISEASES 64170 \| CARD9 \| DISEASES 26508 \| HEYL \| DISEASES 5230 \| PGK1 \| DISEASES 7917 \| BAG6 \| DISEASES 6564 \| SLC15A1 \| DISEASES 3105 \| HLA-A \| DISEASES 2550 \| GABBR1 \| DISEASES 386653 \| IL31 \| DISEASES 4038 \| LRP4 \| DISEASES 375790 \| AGRN \| DISEASES 3456 \| IFNB1 \| DISEASES 361 \| AQP4 \| DISEASES 6152 \| RPL24 \| DISEASES 10521 \| DDX17 \| DISEASES 64223 \| MLST8 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 9612 \| NCOR2 \| DISEASES 6295 \| SAG \| DISEASES 197 \| AHSG \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 57506 \| MAVS \| DISEASES 81704 \| DOCK8 \| DISEASES 1154 \| CISH \| DISEASES 4050 \| LTB \| DISEASES 3586 \| IL10 \| DISEASES 54475 \| NLE1 \| DISEASES 6949 \| TCOF1 \| DISEASES 100506742 \| CASP12 \| DISEASES 5238 \| PGM3 \| DISEASES 930 \| CD19 \| DISEASES 83695 \| RHNO1 \| DISEASES 83742 \| MARVELD1 \| DISEASES 80184 \| CEP290 \| DISEASES 56963 \| RGMA \| DISEASES 567 \| B2M \| DISEASES 11201 \| POLI \| DISEASES 2323 \| FLT3LG \| DISEASES
Locus	(Waiting for update.)

Disease ID	1040
Disease	retinitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:84) HP:0000572 \| Visual loss \| 22 HP:0000969 \| Dropsy \| 18 HP:0002721 \| Immunodeficiency \| 15 HP:0011505 \| Cystoid macular edema \| 15 HP:0040049 \| Macular edema \| 14 HP:0000505 \| Poor vision \| 13 HP:0000618 \| Blindness \| 13 HP:0000365 \| Hearing impairment \| 7 HP:0000529 \| Slowly progressive visual loss \| 6 HP:0000518 \| Cataract \| 6 HP:0001251 \| Ataxia \| 5 HP:0011531 \| Hyalitis \| 5 HP:0000573 \| Retinal hemorrhage \| 4 HP:0011508 \| Macular hole \| 4 HP:0001751 \| Vestibular dysfunction \| 4 HP:0000407 \| sensorineural hearing loss \| 4 HP:0002633 \| Vasculitis \| 3 HP:0007663 \| Central visual loss \| 3 HP:0000554 \| Uveitis \| 3 HP:0000488 \| Noninflammatory retina disease \| 2 HP:0030672 \| Asteroid hyalosis \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0012123 \| Posterior uveitis \| 2 HP:0000662 \| Poor night vision \| 2 HP:0012121 \| Panuveitis \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0000541 \| Detached retina \| 2 HP:0000556 \| Retinal dystrophy \| 2 HP:0000716 \| Depression \| 2 HP:0000980 \| Pallor \| 2 HP:0012189 \| Hodgkin disease \| 2 HP:0005403 \| Decreased numbers of circulating T cells \| 1 HP:0000090 \| juvenile nephronophthisis \| 1 HP:0000627 \| Embryotoxon \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0001741 \| Phimosis \| 1 HP:0007985 \| Retinal arteriolar occlusion \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0011003 \| High myopia \| 1 HP:0002090 \| Pneumonia \| 1 HP:0007902 \| Vitreous hemorrhage \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0001141 \| Severe visual impairment \| 1 HP:0007994 \| Loss of peripheral vision \| 1 HP:0002664 \| Neoplasia \| 1 HP:0003237 \| Increased IgG level \| 1 HP:0100532 \| Scleritis \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0001909 \| Leukemia \| 1 HP:0000831 \| Insulin-resistant diabetes mellitus \| 1 HP:0012089 \| Arteritis \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0030641 \| Incomplete congenital stationary night blindness \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0007802 \| Granular corneal dystrophy \| 1 HP:0100014 \| Macular pucker \| 1 HP:0100033 \| Tic disorder \| 1 HP:0003077 \| Hyperlipidemia \| 1 HP:0002495 \| Decreased vibration sense \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0030640 \| Complete congenital stationary night blindness \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0002657 \| Spondylometaphyseal dysplasia \| 1 HP:0000483 \| Astigmatism \| 1 HP:0100255 \| Metaphyseal dysplasia \| 1 HP:0000545 \| Near sightedness \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0002583 \| Colitis \| 1 HP:0007875 \| Congenital blindness \| 1 HP:0007642 \| Congenital stationary night blindness \| 1 HP:0001131 \| Corneal dystrophy \| 1 HP:0002955 \| Granulomatosis \| 1 HP:0100533 \| Ocular inflammation \| 1 HP:0100726 \| Kaposi's sarcoma \| 1 HP:0011331 \| Atrophy of one side of the face \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0030637 \| Cone dysfunction \| 1 HP:0001369 \| Arthritis \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0000964 \| Eczema \| 1

Disease ID	1040
Disease	retinitis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0042164 \| uveitis \| 3

Manually Genotype(Total Text Mining 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
rs368234815	25259701	282617	IFNL3	umls:C0035333	BeFree	To analyze the association of newly identified IFNL3/4 variant rs368234815 with susceptibility to CMV-associated retinitis in a cohort of HIV-infected patients.	0.000271442	2015	IFNL3;IFNL4	19	39248514	TT	G

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:5)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0035333	carmustine	D002330	154-93-8	retinitis	MESH:D012173	marker/mechanism	625262
C0035333	ethambutol	D004977	74-55-5	retinitis	MESH:D012173	marker/mechanism	4068570
C0035333	foscarnet	D017245	4428-95-9	retinitis	MESH:D012173	therapeutic	1335467
C0035333	minoxidil	D008914	38304-91-5	retinitis	MESH:D012173	marker/mechanism	6342503
C0035333	sulfadiazine	D013411	68-35-9	retinitis	MESH:D012173	therapeutic	18701149

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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