PedAM

Pediatric Disease Annotations & Medicines


	amblyopia

Disease ID	1536
Disease	amblyopia
Definition	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications.
Synonym	amblyopia (disorder) amblyopia [disease/finding] amblyopia nos amblyopia, nos amblyopia, unspecified amblyopias amblyopic lazy eye unspecified amblyopia unspecified amblyopia (disorder) wandering eye wandering eyes
DOID	DOID:10376
UMLS	C0002418
MeSH	D000550
SNOMED-CT	SNOMEDCT_US_2016_09_01:387742006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0038379 \| strabismus \| 17 C0003081 \| anisometropia \| 12 C0020490 \| hyperopia \| 8 C0004106 \| astigmatism \| 5 C0005745 \| ptosis \| 5 C0034951 \| refractive error \| 4 C0456909 \| vision loss \| 3 C0038379 \| squint \| 3 C0015310 \| exotropia \| 2 C0086543 \| cataracts \| 2 C0017601 \| glaucoma \| 2 C0018916 \| hemangiomas \| 2 C0014877 \| esotropia \| 1 C0028738 \| nystagmus \| 1 C0265237 \| blepharophimosis syndrome \| 1 C0155339 \| brown syndrome \| 1 C0086543 \| cataract \| 1 C0034951 \| refractive errors \| 1 C0005744 \| blepharophimosis \| 1 C0018916 \| hemangioma \| 1 C0010034 \| corneal disease \| 1 C0456909 \| blindness \| 1 C1533041 \| primary infantile glaucoma \| 1 C0027092 \| myopia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:164) 65078 \| RTN4R \| DISEASES 1652 \| DDT \| DISEASES 6948 \| TCN2 \| DISEASES 1414 \| CRYBB1 \| DISEASES 5816 \| PVALB \| DISEASES 57167 \| SALL4 \| DISEASES 140679 \| SLC32A1 \| DISEASES 3191 \| HNRNPL \| DISEASES 57030 \| SLC17A7 \| DISEASES 1406 \| CRX \| DISEASES 1410 \| CRYAB \| DISEASES 55907 \| CMAS \| DISEASES 7287 \| TULP1 \| DISEASES 2916 \| GRM6 \| DISEASES 51426 \| POLK \| DISEASES 3204 \| HOXA7 \| DISEASES 7291 \| TWIST1 \| DISEASES 6626 \| SNRPA \| DISEASES 4974 \| OMG \| DISEASES 10053 \| AP1M2 \| DISEASES 3859 \| KRT12 \| DISEASES 10912 \| GADD45G \| DISEASES 3000 \| GUCY2D \| DISEASES 55997 \| CFC1 \| DISEASES 6386 \| SDCBP \| DISEASES 5687 \| PSMA6 \| DISEASES 6121 \| RPE65 \| DISEASES 25939 \| SAMHD1 \| DISEASES 10133 \| OPTN \| DISEASES 1 \| A1BG \| DISEASES 29899 \| GPSM2 \| DISEASES 2891 \| GRIA2 \| DISEASES 3004 \| GZMM \| DISEASES 2651 \| GCNT2 \| DISEASES 25793 \| FBXO7 \| DISEASES 7008 \| TEF \| DISEASES 51380 \| CSAD \| DISEASES 145226 \| RDH12 \| DISEASES 6398 \| SECTM1 \| DISEASES 2840 \| GPR17 \| DISEASES 4715 \| NDUFB9 \| DISEASES 2904 \| GRIN2B \| DISEASES 3176 \| HNMT \| DISEASES 29974 \| A1CF \| DISEASES 2911 \| GRM1 \| DISEASES 1013 \| CDH15 \| DISEASES 4681 \| NBL1 \| DISEASES 54069 \| MIS18A \| DISEASES 1409 \| CRYAA \| DISEASES 1173 \| AP2M1 \| DISEASES 6360 \| CCL16 \| DISEASES 2487 \| FRZB \| DISEASES 10461 \| MERTK \| DISEASES 115825 \| WDFY2 \| DISEASES 401 \| PHOX2A \| DISEASES 2562 \| GABRB3 \| DISEASES 219793 \| TBATA \| DISEASES 26585 \| GREM1 \| DISEASES 558 \| AXL \| DISEASES 4909 \| NTF4 \| DISEASES 64137 \| ABCG4 \| DISEASES 84342 \| COG8 \| DISEASES 121391 \| KRT74 \| DISEASES 54205 \| CYCS \| DISEASES 2348 \| FOLR1 \| DISEASES 8636 \| SSNA1 \| DISEASES 3170 \| FOXA2 \| DISEASES 64388 \| GREM2 \| DISEASES 11145 \| PLA2G16 \| DISEASES 5745 \| PTH1R \| DISEASES 199699 \| DAND5 \| DISEASES 9241 \| NOG \| DISEASES 286753 \| TUSC5 \| DISEASES 2242 \| FES \| DISEASES 1538 \| CYLC1 \| DISEASES 29940 \| DSE \| DISEASES 222546 \| RFX6 \| DISEASES 2903 \| GRIN2A \| DISEASES 668 \| FOXL2 \| DISEASES 9227 \| LRAT \| DISEASES 57142 \| RTN4 \| DISEASES 11188 \| NISCH \| DISEASES 4137 \| MAPT \| DISEASES 2066 \| ERBB4 \| DISEASES 388228 \| SBK1 \| DISEASES 124454 \| EARS2 \| DISEASES 5015 \| OTX2 \| DISEASES 4771 \| NF2 \| DISEASES 3614 \| IMPDH1 \| DISEASES 1760 \| DMPK \| DISEASES 1798 \| DPAGT1 \| DISEASES 84894 \| LINGO1 \| DISEASES 4010 \| LMX1B \| DISEASES 140885 \| SIRPA \| DISEASES 5169 \| ENPP3 \| DISEASES 2571 \| GAD1 \| DISEASES 26136 \| TES \| DISEASES 4763 \| NF1 \| DISEASES 11169 \| WDHD1 \| DISEASES 9361 \| LONP1 \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 4535 \| MT-ND1 \| DISEASES 4540 \| MT-ND5 \| DISEASES 55605 \| KIF21A \| DISEASES 4538 \| MT-ND4 \| DISEASES 5362 \| PLXNA2 \| DISEASES 23418 \| CRB1 \| DISEASES 10370 \| CITED2 \| DISEASES 1805 \| DPT \| DISEASES 5451 \| POU2F1 \| DISEASES 6232 \| RPS27 \| DISEASES 117145 \| THEM4 \| DISEASES 8266 \| UBL4A \| DISEASES 7162 \| TPBG \| DISEASES 257 \| ALX3 \| DISEASES 167691 \| LCA5 \| DISEASES 9124 \| PDLIM1 \| DISEASES 2902 \| GRIN1 \| DISEASES 1907 \| EDN2 \| DISEASES 8565 \| YARS \| DISEASES 8200 \| GDF5 \| DISEASES 2245 \| FGD1 \| DISEASES 1282 \| COL4A1 \| DISEASES 6103 \| RPGR \| DISEASES 5080 \| PAX6 \| DISEASES 54840 \| APTX \| DISEASES 6247 \| RS1 \| DISEASES 8544 \| PIR \| DISEASES 23746 \| AIPL1 \| DISEASES 2254 \| FGF9 \| DISEASES 348801 \| LNP1 \| DISEASES 56953 \| NT5M \| DISEASES 6235 \| RPS29 \| DISEASES 64221 \| ROBO3 \| DISEASES 1837 \| DTNA \| DISEASES 10581 \| IFITM2 \| DISEASES 57096 \| RPGRIP1 \| DISEASES 23077 \| MYCBP2 \| DISEASES 6654 \| SOS1 \| DISEASES 3778 \| KCNMA1 \| DISEASES 55777 \| MBD5 \| DISEASES 1123 \| CHN1 \| DISEASES 83552 \| MFRP \| DISEASES 55636 \| CHD7 \| DISEASES 6222 \| RPS18 \| DISEASES 7439 \| BEST1 \| DISEASES 57506 \| MAVS \| DISEASES 862 \| RUNX1T1 \| DISEASES 2263 \| FGFR2 \| DISEASES 3850 \| KRT3 \| DISEASES 627 \| BDNF \| DISEASES 6513 \| SLC2A1 \| DISEASES 389072 \| PLEKHM3 \| DISEASES 10243 \| GPHN \| DISEASES 127933 \| UHMK1 \| DISEASES 8649 \| LAMTOR3 \| DISEASES 100288485 \| MTRNR2L7 \| DISEASES 80184 \| CEP290 \| DISEASES 27229 \| TUBGCP4 \| DISEASES 104355217 \| ERICD \| DISEASES 57000 \| GSN-AS1 \| DISEASES 102723508 \| KANTR \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1536
Disease	amblyopia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0000486 \| Squint eyes \| 19 HP:0012803 \| Anisometropia \| 12 HP:0000540 \| Hypermetropia \| 8 HP:0000508 \| Drooping upper eyelid \| 7 HP:0000572 \| Visual loss \| 5 HP:0000483 \| Astigmatism \| 5 HP:0000505 \| Poor vision \| 3 HP:0000518 \| Cataract \| 3 HP:0007970 \| Congenital ptosis \| 2 HP:0000579 \| Nasolacrimal duct obstruction \| 2 HP:0000501 \| Glaucoma \| 2 HP:0000577 \| Exotropia \| 2 HP:0005306 \| Capillary hemangioma \| 2 HP:0000609 \| Optic nerve hypoplasia \| 1 HP:0000565 \| Inward turning of one or both eyes \| 1 HP:0000639 \| Nystagmus \| 1 HP:0000545 \| Near sightedness \| 1 HP:0001289 \| Confusion \| 1 HP:0000581 \| Blepharophimosis \| 1 HP:0001028 \| Strawberry mark \| 1 HP:0000662 \| Poor night vision \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0000618 \| Blindness \| 1 HP:0000666 \| Horizontal nystagmus \| 1

Disease ID	1536
Disease	amblyopia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0038379 \| strabismus \| 17 C0028738 \| nystagmus \| 1

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:0)
(Waiting for update.)

Chemical(Total Drugs:6)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0002418	ethambutol	D004977	74-55-5	amblyopia	MESH:D000550	marker/mechanism	5314052
C0002418	ethchlorvynol	D004984	113-18-8	amblyopia	MESH:D000550	marker/mechanism	5352221
C0002418	lindane	D001556	58-89-9	amblyopia	MESH:D000550	marker/mechanism	66660
C0002418	quinine	D011803	130-95-0	amblyopia	MESH:D000550	marker/mechanism	4671314
C0002418	valproic acid	D014635	99-66-1	amblyopia	MESH:D000550	marker/mechanism	17688650
C0002418	vitamin a	D014801	11103-57-4	amblyopia	MESH:D000550	marker/mechanism	7460169

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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