PedAM

Pediatric Disease Annotations & Medicines


	retinoschisis

Disease ID	559
Disease	retinoschisis
Definition	A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
Synonym	retinoschises retinoschisis (disorder) retinoschisis [disease/finding] retinoschisis nos retinoschisis unspecified retinoschisis unspecified (disorder) retinoschisis, nos retinoschisis, unspecified rs - retinoschisis schisis of retina
DOID	DOID:8465
UMLS	C0152439
MeSH	D041441
SNOMED-CT	SNOMEDCT_US_2016_09_01:44268007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0035305 \| retinal detachment \| 7 C0029132 \| optic neuropathy \| 2 C0017601 \| glaucoma \| 2 C0030593 \| pars planitis \| 1 C0152136 \| normal tension glaucoma \| 1 C0271051 \| macular edema \| 1 C0024440 \| cystoid macular edema \| 1 C0024441 \| macular hole \| 1 C0339204 \| staphyloma \| 1 C0206368 \| exfoliation glaucoma \| 1 C0027092 \| myopia \| 1 C0206368 \| pseudoexfoliation glaucoma \| 1 C1567742 \| x-linked alport syndrome \| 1 C0035305 \| retinal detachments \| 1 C0155360 \| posterior staphyloma \| 1 C0442874 \| neuropathy \| 1 C0423361 \| posterior vitreous detachment \| 1 C1567741 \| alport syndrome \| 1 C0017612 \| open angle glaucoma \| 1 C0026010 \| microphthalmos \| 1 C0028738 \| nystagmus \| 1 C0155299 \| optic nerve coloboma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) RS1 \| 6247 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6247 \| RS1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 2978 \| GUCA1A \| DISEASES 5019 \| OXCT1 \| DISEASES 2742 \| GLRA2 \| DISEASES 1406 \| CRX \| DISEASES 2648 \| KAT2A \| DISEASES 2916 \| GRM6 \| DISEASES 1958 \| EGR1 \| DISEASES 1948 \| EFNB2 \| DISEASES 482 \| ATP1B2 \| DISEASES 1258 \| CNGB1 \| DISEASES 2670 \| GFAP \| DISEASES 1327 \| COX4I1 \| DISEASES 759 \| CA1 \| DISEASES 10681 \| GNB5 \| DISEASES 338917 \| VSX2 \| DISEASES 6121 \| RPE65 \| DISEASES 8850 \| KAT2B \| DISEASES 1421 \| CRYGD \| DISEASES 1462 \| VCAN \| DISEASES 8829 \| NRP1 \| DISEASES 793 \| CALB1 \| DISEASES 7078 \| TIMP3 \| DISEASES 5428 \| POLG \| DISEASES 1261 \| CNGA3 \| DISEASES 4841 \| NONO \| DISEASES 170692 \| ADAMTS18 \| DISEASES 23250 \| ATP11A \| DISEASES 6529 \| SLC6A1 \| DISEASES 873 \| CBR1 \| DISEASES 10461 \| MERTK \| DISEASES 478 \| ATP1A3 \| DISEASES 6249 \| CLIP1 \| DISEASES 7543 \| ZFX \| DISEASES 54714 \| CNGB3 \| DISEASES 63827 \| BCAN \| DISEASES 60506 \| NYX \| DISEASES 9588 \| PRDX6 \| DISEASES 4625 \| MYH7 \| DISEASES 1121 \| CHM \| DISEASES 51592 \| TRIM33 \| DISEASES 5475 \| PPEF1 \| DISEASES 1756 \| DMD \| DISEASES 4538 \| MT-ND4 \| DISEASES 6000 \| RGS7 \| DISEASES 3664 \| IRF6 \| DISEASES 5362 \| PLXNA2 \| DISEASES 23418 \| CRB1 \| DISEASES 3766 \| KCNJ10 \| DISEASES 117145 \| THEM4 \| DISEASES 4942 \| OAT \| DISEASES 6785 \| ELOVL4 \| DISEASES 3897 \| L1CAM \| DISEASES 24 \| ABCA4 \| DISEASES 7422 \| VEGFA \| DISEASES 84701 \| COX4I2 \| DISEASES 778 \| CACNA1F \| DISEASES 780 \| DDR1 \| DISEASES 1471 \| CST3 \| DISEASES 6103 \| RPGR \| DISEASES 5080 \| PAX6 \| DISEASES 6303 \| SAT1 \| DISEASES 23676 \| SMPX \| DISEASES 79625 \| NDNF \| DISEASES 5160 \| PDHA1 \| DISEASES 5256 \| PHKA2 \| DISEASES 6247 \| RS1 \| DISEASES 6792 \| CDKL5 \| DISEASES 795 \| S100G \| DISEASES 2925 \| GRPR \| DISEASES 1280 \| COL2A1 \| DISEASES 9189 \| ZBED1 \| DISEASES 57665 \| RDH14 \| DISEASES 169522 \| KCNV2 \| DISEASES 51520 \| LARS \| DISEASES 2628 \| GATM \| DISEASES 4901 \| NRL \| DISEASES 8786 \| RGS11 \| DISEASES 10606 \| PAICS \| DISEASES 4647 \| MYO7A \| DISEASES 6295 \| SAG \| DISEASES 83552 \| MFRP \| DISEASES 64324 \| NSD1 \| DISEASES 7439 \| BEST1 \| DISEASES 23098 \| SARM1 \| DISEASES 3925 \| STMN1 \| DISEASES 22862 \| FNDC3A \| DISEASES 22999 \| RIMS1 \| DISEASES 3347 \| HTN3 \| DISEASES 387715 \| ARMS2 \| DISEASES 5053 \| PAH \| DISEASES 53349 \| ZFYVE1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	559
Disease	retinoschisis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0000541 \| Detached retina \| 7 HP:0001138 \| Damaged optic nerve \| 2 HP:0000501 \| Glaucoma \| 2 HP:0007902 \| Vitreous hemorrhage \| 2 HP:0100014 \| Macular pucker \| 1 HP:0000639 \| Nystagmus \| 1 HP:0040049 \| Macular edema \| 1 HP:0000588 \| Optic disk coloboma \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0000545 \| Near sightedness \| 1 HP:0001489 \| Posterior vitreous detachment \| 1 HP:0012627 \| Pseudoexfoliation \| 1 HP:0007766 \| Hypoplastic optic disks \| 1 HP:0030854 \| Scleral staphyloma \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0012152 \| Retinoschisis involving the fovea \| 1 HP:0030856 \| Posterior staphyloma \| 1 HP:0030329 \| Retinal thinning \| 1 HP:0000589 \| Ocular coloboma \| 1 HP:0011508 \| Macular hole \| 1

Disease ID	559
Disease	retinoschisis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1510420 \| cavities C0035321 \| retinal holes
Text Mined Symptom	(Waiting for update.)

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011530	Retinal hole	MP:0008916	abnormal astrocyte physiology;

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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