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	retinopathy of prematurity

Disease ID	262
Disease	retinopathy of prematurity
Definition	A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)
Synonym	fibroplasia retrolental fibroplasia, retrolental fibroplasias, retrolental premature retinopathy prematurity of retinopathy prematurity retinopathies prematurity retinopathy prematurity retinopathy rop retinopathy of prematurity (disorder) retinopathy of prematurity [disease/finding] retinopathy of prematurity nos retinopathy of prematurity, unspecified retinopathy premature retinopathy prematurity retinoph prematurity nos retrolental fibroplasia retrolental fibroplasia (disorder) retrolental fibroplasias rlf rlf - retrolental fibroplasia rop rop - retinopathy of prematurity terry syndrome terry's syndrome
Orphanet	ORPHANET:90050
OMIM	OMIM:180610
DOID	DOID:13025
UMLS	C0035344
MeSH	D012178
SNOMED-CT	SNOMEDCT_US_2016_09_01:415297005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0456909 \| blindness \| 6 C0035305 \| retinal detachment \| 6 C0034951 \| refractive error \| 2 C0022578 \| keratoconus \| 1 C0339204 \| staphyloma \| 1 C0020538 \| increased blood pressure \| 1 C0154832 \| coats' disease \| 1 C0017605 \| angle-closure glaucoma \| 1 C0154946 \| acute angle-closure glaucoma \| 1 C0035305 \| retinal detachments \| 1 C0035309 \| retinopathy \| 1 C0035319 \| acute retinal necrosis \| 1 C0034951 \| refractive errors \| 1 C0017601 \| glaucoma \| 1 C0041327 \| phthisis \| 1 C0007789 \| cerebral palsy \| 1 C0035335 \| retinoblastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 8322 \| FZD4 \| ORPHANET 4041 \| LRP5 \| ORPHANET 183 \| AGT \| CTD_human 4693 \| NDP \| ORPHANET;UNIPROT 3640 \| INSL3 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 1636 \| ACE \| CIPHER 217 \| ALDH2 \| CIPHER 285 \| ANGPT2 \| CIPHER 3075 \| CFH \| CIPHER 2034 \| EPAS1 \| CIPHER 2056 \| EPO \| CIPHER 2099 \| ESR1 \| CIPHER 8322 \| FZD4 \| CIPHER 2944 \| GSTM1 \| CIPHER 2952 \| GSTT1 \| CIPHER 3091 \| HIF1A \| CIPHER 3479 \| IGF1 \| CIPHER 3480 \| IGF1R \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 4693 \| NDP \| CIPHER 4846 \| NOS3 \| CIPHER 5176 \| SERPINF1 \| CIPHER 7040 \| TGFB1 \| CIPHER 7124 \| TNF \| CIPHER 7186 \| TRAF2 \| CIPHER 7422 \| VEGFA \| CIPHER 183 \| AGT \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:86) 89845 \| ABCC10 \| 1.591 \| DISEASES 8751 \| ADAM15 \| 2.205 \| DISEASES 8754 \| ADAM9 \| 1.739 \| DISEASES 186 \| AGTR2 \| 1.849 \| DISEASES 284 \| ANGPT1 \| 2.86 \| DISEASES 51378 \| ANGPT4 \| 1.748 \| DISEASES 27329 \| ANGPTL3 \| 1.023 \| DISEASES 554 \| AVPR2 \| 2.154 \| DISEASES 627 \| BDNF \| 1.047 \| DISEASES 656 \| BMP8B \| 2.266 \| DISEASES 57010 \| CABP4 \| 1.789 \| DISEASES 79872 \| CBLL1 \| 2.179 \| DISEASES 6358 \| CCL14 \| 1.38 \| DISEASES 1003 \| CDH5 \| 2.402 \| DISEASES 1028 \| CDKN1C \| 3.738 \| DISEASES 1056 \| CEL \| 1.068 \| DISEASES 9350 \| CER1 \| 1.187 \| DISEASES 91851 \| CHRDL1 \| 1.818 \| DISEASES 1267 \| CNP \| 1.285 \| DISEASES 1270 \| CNTF \| 2.079 \| DISEASES 80781 \| COL18A1 \| 2.222 \| DISEASES 9946 \| CRYZL1 \| 1.638 \| DISEASES 6387 \| CXCL12 \| 1.078 \| DISEASES 1536 \| CYBB \| 1.97 \| DISEASES 3491 \| CYR61 \| 1.845 \| DISEASES 140850 \| DEFB127 \| 3.225 \| DISEASES 1805 \| DPT \| 1.955 \| DISEASES 50506 \| DUOX2 \| 1.234 \| DISEASES 124454 \| EARS2 \| 1.18 \| DISEASES 54583 \| EGLN1 \| 1.506 \| DISEASES 2013 \| EMP2 \| 1.427 \| DISEASES 2049 \| EPHB3 \| 1.469 \| DISEASES 2050 \| EPHB4 \| 1.706 \| DISEASES 2079 \| ERH \| 1.53 \| DISEASES 2153 \| F5 \| 1.396 \| DISEASES 2187 \| FANCB \| 1.077 \| DISEASES 2199 \| FBLN2 \| 1.482 \| DISEASES 26190 \| FBXW2 \| 2.009 \| DISEASES 8322 \| FZD4 \| 4.426 \| DISEASES 3045 \| HBD \| 1.797 \| DISEASES 3055 \| HCK \| 1.278 \| DISEASES 3091 \| HIF1A \| 3.018 \| DISEASES 3486 \| IGFBP3 \| 2.939 \| DISEASES 27124 \| INPP5J \| 4.323 \| DISEASES 83700 \| JAM3 \| 1.249 \| DISEASES 100885779 \| LINC-ROR \| 2.028 \| DISEASES 64386 \| MMP25 \| 1.429 \| DISEASES 4485 \| MST1 \| 1.152 \| DISEASES 4693 \| NDP \| 4.459 \| DISEASES 4842 \| NOS1 \| 1.335 \| DISEASES 27035 \| NOX1 \| 2.183 \| DISEASES 8828 \| NRP2 \| 1.133 \| DISEASES 5956 \| OPN1LW \| 1.799 \| DISEASES 25859 \| PART1 \| 1.966 \| DISEASES 5155 \| PDGFB \| 1.367 \| DISEASES 56034 \| PDGFC \| 1.812 \| DISEASES 5228 \| PGF \| 2.617 \| DISEASES 5454 \| POU3F2 \| 1.06 \| DISEASES 9374 \| PPT2 \| 1.235 \| DISEASES 8842 \| PROM1 \| 1.08 \| DISEASES 55278 \| QRSL1 \| 1.902 \| DISEASES 871 \| SERPINH1 \| 3.256 \| DISEASES 6421 \| SFPQ \| 1.515 \| DISEASES 6564 \| SLC15A1 \| 1.027 \| DISEASES 6565 \| SLC15A2 \| 1.669 \| DISEASES 9123 \| SLC16A3 \| 2.838 \| DISEASES 6582 \| SLC22A2 \| 1.142 \| DISEASES 10864 \| SLC22A7 \| 1.259 \| DISEASES 788 \| SLC25A20 \| 1.05 \| DISEASES 3177 \| SLC29A2 \| 1.157 \| DISEASES 6545 \| SLC7A4 \| 1.804 \| DISEASES 9806 \| SPOCK2 \| 2.187 \| DISEASES 6732 \| SRPK1 \| 1.574 \| DISEASES 6752 \| SSTR2 \| 1.405 \| DISEASES 56670 \| SUCNR1 \| 3.485 \| DISEASES 6917 \| TCEA1 \| 1.374 \| DISEASES 7004 \| TEAD4 \| 1.815 \| DISEASES 7010 \| TEK \| 3.088 \| DISEASES 7706 \| TRIM25 \| 2.02 \| DISEASES 7106 \| TSPAN4 \| 1.204 \| DISEASES 219699 \| UNC5B \| 1.266 \| DISEASES 7409 \| VAV1 \| 1.456 \| DISEASES 7422 \| VEGFA \| 5.825 \| DISEASES 7436 \| VLDLR \| 1.516 \| DISEASES 84186 \| ZCCHC7 \| 1.962 \| DISEASES 9202 \| ZMYM4 \| 2.643 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) NDP \| Xp11.3 FZD4 \| 11q14.2 LRP5 \| 11q13.2

Disease ID	262
Disease	retinopathy of prematurity
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0001103 \| Abnormality of the macula HP:0007917 \| Tractional retinal detachment HP:0000618 \| Blindness HP:0007902 \| Vitreous hemorrhage HP:0001518 \| Small for gestational age HP:0008046 \| Abnormality of the retinal vasculature HP:0001136 \| Retinal arteriolar tortuosity HP:0001622 \| Premature birth
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0000505 \| Poor vision \| 8 HP:0000618 \| Blindness \| 7 HP:0000541 \| Detached retina \| 7 HP:0000572 \| Visual loss \| 2 HP:0012531 \| Pain \| 2 HP:0007968 \| Persistent fetal vasculature \| 2 HP:0007902 \| Vitreous hemorrhage \| 2 HP:0030746 \| Intraventricular hemorrhage \| 1 HP:0000667 \| Phthisis bulbi \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0001141 \| Severe visual impairment \| 1 HP:0100806 \| Sepsis \| 1 HP:0030854 \| Scleral staphyloma \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0012419 \| Hyperoxemia \| 1 HP:0001622 \| Premature delivery \| 1 HP:0007773 \| Vitreoretinopathy \| 1 HP:0007917 \| Tractional retinal detachment \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0000563 \| Conical cornea \| 1 HP:0012231 \| Exudative retinal detachment \| 1 HP:0000573 \| Retinal hemorrhage \| 1 HP:0009919 \| Retinoblastoma \| 1

Disease ID	262
Disease	retinopathy of prematurity
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0456909 \| blindness \| 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
rs41322052	18334945	4846	NOS3	umls:C0035344	BeFree	Endothelial nitric oxide synthase gene T-786C and 27-bp repeat gene polymorphisms in retinopathy of prematurity.	0.010639772	2008	NOS3	7	150993018	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001103	Abnormality of the macula	MP:0009886	failure of palatal shelf elevation	the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
HP:0008046	Abnormality of the retinal vasculature	MP:0004686	decreased length of long bones	reduced end-to-end length of the several elongated bones of the extremities
HP:0007902	Vitreous hemorrhage	MP:0006185	retinal hemorrhage	bleeding into the retina
HP:0007917	Tractional retinal detachment	MP:0009392	retinal gliosis	increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue
HP:0001622	Premature birth	MP:0009703	decreased birth body size	reduction in average body size at birth compared to controls
HP:0001518	Small for gestational age	MP:0011967	increased or absent threshold for auditory brainstem response	increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000618	Blindness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008046	Abnormality of the retinal vasculature	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0007917	Tractional retinal detachment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001136	Retinal arteriolar tortuosity	MP:0011697	vacuolated lens	fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light
HP:0001622	Premature birth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0007902	Vitreous hemorrhage	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001103	Abnormality of the macula	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001518	Small for gestational age	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals

Disease ID	262
Disease	retinopathy of prematurity
Case	(Waiting for update.)

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