Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Parent Node:
expand
Abnormal retinal morphology (HP:0000479)help
..Starting node
..expand
Retinopathy (HP:0000488)help
Term ID: 488
Name: Retinopathy
Synonym: Noninflammatory retina disease
Definition: Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Comments:
Reference: HP:0000488
Genes and Diseases:
 
       Child Nodes:
........expandRetinopathy of prematurity (HP:0500049) help
................... HP:0500050 Retinopathy of prematurity stage 1
................... HP:0500051 Retinopathy of prematurity stage 2
................... HP:0500052 Retinopathy of prematurity stage 3
................... HP:0500053 Retinopathy of prematurity stage 4
................... HP:0500056 Retinopathy of prematurity stage 5
................... HP:0500059 Retinopathy of prematurity zone I
................... HP:0500060 Retinopathy of prematurity zone II
................... HP:0500061 Retinopathy of prematurity zone III
................... HP:0500062 Retinopathy of prematurity plus
................... HP:0500063 Retinopathy of prematurity pre-plus
................... HP:0500064 Retinopathy of prematurity threshold
................... HP:0500065 Retinopathy of prematurity prethreshold

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000488HP:0000488Retinopathy0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0000488HP:0000488Retinopathy0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0000488HP:0000488Retinopathy0ABCC8 CL E G H683359ORPHA:552MODYHP:0040283 - Occasional245
HP:0000488HP:0000488Retinopathy0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040283 - Occasional11
HP:0000488HP:0000488Retinopathy0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0000488HP:0000488Retinopathy0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0000488HP:0000488Retinopathy0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0000488HP:0000488Retinopathy0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040283 - Occasional165
HP:0000488HP:0000488Retinopathy0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0000488HP:0000488Retinopathy0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040283 - Occasional39
HP:0000488HP:0000488Retinopathy0APPL1 CL E G H2606024035ORPHA:552MODYHP:0040283 - Occasional2
HP:0000488HP:0000488Retinopathy0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000488HP:0000488Retinopathy0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0000488HP:0000488Retinopathy0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040283 - Occasional184
HP:0000488HP:0000488Retinopathy0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0000488HP:0000488Retinopathy0BLK CL E G H6401057ORPHA:552MODYHP:0040283 - Occasional75
HP:0000488HP:0000488Retinopathy0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040284 - Very rare314
HP:0000488HP:0000488Retinopathy0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0000488HP:0000488Retinopathy0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040281 - Very frequent87
HP:0000488HP:0000488Retinopathy0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040283 - Occasional145
HP:0000488HP:0000488Retinopathy0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040283 - Occasional289
HP:0000488HP:0000488Retinopathy0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0CEL CL E G H10561848ORPHA:552MODYHP:0040283 - Occasional25
HP:0000488HP:0000488Retinopathy0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15HP:0040283 - Occasional90
HP:0000488HP:0000488Retinopathy0COL11A1 CL E G H13012186ORPHA:90654Stickler syndrome type 2HP:0040282 - Frequent215
HP:0000488HP:0000488Retinopathy0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000488HP:0000488Retinopathy0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0000488HP:0000488Retinopathy0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000488HP:0000488Retinopathy0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000488HP:0000488Retinopathy0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type.178
HP:0000488HP:0000488Retinopathy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0000488HP:0000488Retinopathy0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000488HP:0000488Retinopathy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000488HP:0000488Retinopathy0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0000488HP:0000488Retinopathy0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0000488HP:0000488Retinopathy0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0000488HP:0000488Retinopathy0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0000488HP:0000488Retinopathy0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0000488HP:0000488Retinopathy0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0000488HP:0000488Retinopathy0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0000488HP:0000488Retinopathy0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0000488HP:0000488Retinopathy0GCK CL E G H26454195ORPHA:552MODYHP:0040283 - Occasional237
HP:0000488HP:0000488Retinopathy0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0000488HP:0000488Retinopathy0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0000488HP:0000488Retinopathy0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0000488HP:0000488Retinopathy0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0000488HP:0000488Retinopathy0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0000488HP:0000488Retinopathy0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0000488HP:0000488Retinopathy0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0000488HP:0000488Retinopathy0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040283 - Occasional4
HP:0000488HP:0000488Retinopathy0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0HNF1A CL E G H692711621ORPHA:552MODYHP:0040283 - Occasional161
HP:0000488HP:0000488Retinopathy0HNF4A CL E G H31725024ORPHA:552MODYHP:0040283 - Occasional138
HP:0000488HP:0000488Retinopathy0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000488HP:0000488Retinopathy0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000488HP:0000488Retinopathy0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0000488HP:0000488Retinopathy0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0000488HP:0000488Retinopathy0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000488HP:0000488Retinopathy0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040283 - Occasional31
HP:0000488HP:0000488Retinopathy0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000488HP:0000488Retinopathy0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0000488HP:0000488Retinopathy0INS CL E G H36306081ORPHA:552MODYHP:0040283 - Occasional62
HP:0000488HP:0000488Retinopathy0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000488HP:0000488Retinopathy0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0000488HP:0000488Retinopathy0KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040283 - Occasional127
HP:0000488HP:0000488Retinopathy0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000488HP:0000488Retinopathy0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0000488HP:0000488Retinopathy0KLF11 CL E G H846211811ORPHA:552MODYHP:0040283 - Occasional78
HP:0000488HP:0000488Retinopathy0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0000488HP:0000488Retinopathy0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000488HP:0000488Retinopathy0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000488HP:0000488Retinopathy0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040283 - Occasional124
HP:0000488HP:0000488Retinopathy0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0000488HP:0000488Retinopathy0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0000488HP:0000488Retinopathy0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0000488HP:0000488Retinopathy0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040283 - Occasional3
HP:0000488HP:0000488Retinopathy0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000488HP:0000488Retinopathy0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040283 - Occasional91
HP:0000488HP:0000488Retinopathy0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0MTTP CL E G H45477467OMIM:200100ABETALIPOPROTEINEMIA.81
HP:0000488HP:0000488Retinopathy0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0000488HP:0000488Retinopathy0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0000488HP:0000488Retinopathy0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0000488HP:0000488Retinopathy0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0000488HP:0000488Retinopathy0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000488HP:0000488Retinopathy0NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040283 - Occasional32
HP:0000488HP:0000488Retinopathy0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0000488HP:0000488Retinopathy0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000488HP:0000488Retinopathy0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0000488HP:0000488Retinopathy0PAX4 CL E G H50788618ORPHA:552MODYHP:0040283 - Occasional55
HP:0000488HP:0000488Retinopathy0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0000488HP:0000488Retinopathy0PDX1 CL E G H36516107ORPHA:552MODYHP:0040283 - Occasional30
HP:0000488HP:0000488Retinopathy0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0000488HP:0000488Retinopathy0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0000488HP:0000488Retinopathy0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000488HP:0000488Retinopathy0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2HP:0040283 - Occasional11
HP:0000488HP:0000488Retinopathy0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040283 - Occasional23
HP:0000488HP:0000488Retinopathy0PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040282 - Frequent75
HP:0000488HP:0000488Retinopathy0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000488HP:0000488Retinopathy0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0000488HP:0000488Retinopathy0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000488HP:0000488Retinopathy0SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040281 - Very frequent8
HP:0000488HP:0000488Retinopathy0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0000488HP:0000488Retinopathy0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent110
HP:0000488HP:0000488Retinopathy0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000488HP:0000488Retinopathy0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0000488HP:0000488Retinopathy0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040283 - Occasional238
HP:0000488HP:0000488Retinopathy0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0000488HP:0000488Retinopathy0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0000488HP:0000488Retinopathy0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0000488HP:0000488Retinopathy0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040283 - Occasional33
HP:0000488HP:0000488Retinopathy0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onsetHP:0040283 - Occasional44
HP:0000488HP:0000488Retinopathy0TRIM32 CL E G H2295416380OMIM:615988Bardet-Biedl syndrome 11.108
HP:0000488HP:0000488Retinopathy0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000488HP:0000488Retinopathy0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000488HP:0000488Retinopathy0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000488HP:0000488Retinopathy0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0000488HP:0000488Retinopathy0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 29.1
HP:0000488HP:0000488Retinopathy0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000488HP:0500049Retinopathy of prematurity1 CL E G H
HP:0000488HP:0500061Retinopathy of prematurity zone III2 CL E G H
HP:0000488HP:0500060Retinopathy of prematurity zone II2 CL E G H
HP:0000488HP:0500053Retinopathy of prematurity stage 42 CL E G H
HP:0000488HP:0500059Retinopathy of prematurity zone I2 CL E G H
HP:0000488HP:0500065Retinopathy of prematurity prethreshold2 CL E G H
HP:0000488HP:0500052Retinopathy of prematurity stage 32 CL E G H
HP:0000488HP:0500064Retinopathy of prematurity threshold2 CL E G H
HP:0000488HP:0500051Retinopathy of prematurity stage 22 CL E G H
HP:0000488HP:0500063Retinopathy of prematurity pre-plus2 CL E G H
HP:0000488HP:0500050Retinopathy of prematurity stage 12 CL E G H
HP:0000488HP:0500056Retinopathy of prematurity stage 52 CL E G H
HP:0000488HP:0500062Retinopathy of prematurity plus2 CL E G H
HP:0000488HP:0500054Retinopathy of prematurity stage 4a3 CL E G H
HP:0000488HP:0500058Retinopathy of prematurity stage 5b3 CL E G H
HP:0000488HP:0500057Retinopathy of prematurity stage 5a3 CL E G H
HP:0000488HP:0500055Retinopathy of prematurity stage 4b3 CL E G H


Genes (120) :ABCC6 ABCC8 ACD AGXT ALDH3A2 ALG8 AP5Z1 APOE APPL1 ATG7 ATP6 BAP1 BCL11A BLK BLM C1QTNF5 C4A CCR1 CDH3 CDK4 CDKN2A CDKN2B CEL CEP41 COL11A1 CPLX1 CREBBP CSPP1 CTBP1 CTLA4 CTNS DPM1 ENPP1 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 FAS FGFR1 GCK GNPTAB HADHA HBB HBG1 HBG2 HLA-B HLA-DPA1 HLA-DPB1 HNF1A HNF4A IDS IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INS INSR KCNJ11 KIF11 KLF1 KLF11 KLRC4 KRAS LETM1 MAPRE2 MC1R MCOLN1 MEFV MFSD8 MGMT MIA3 MITF MLX MTTP MYO5A NDUFAF1 NDUFAF3 NDUFB8 NDUFS2 NELFA NEU1 NEUROD1 NOD2 NSD2 PANK2 PAX4 PDX1 PEX7 PHYH PIGG PLK4 POT1 PROS1 PRTN3 PRUNE1 PTCH1 PTPN22 SAR1B SCO2 STAT3 STAT4 SURF1 TERF2IP TERT TLR4 TMEM107 TMEM231 TNFRSF11B TRIM32 TRNE TRNK TRNL1 TUBB TULP1 TXN2 UBAC2

Diseases (64) :ORPHA:758 ORPHA:99885 ORPHA:552 ORPHA:618 OMIM:259900 ORPHA:816 ORPHA:79325 ORPHA:306511 OMIM:613647 ORPHA:158029 OMIM:619422 OMIM:551500 ORPHA:251380 ORPHA:125 OMIM:605670 ORPHA:117 ORPHA:1897 OMIM:614464 ORPHA:90654 ORPHA:280 ORPHA:353281 OMIM:615636 ORPHA:900 OMIM:219900 OMIM:219800 OMIM:608799 ORPHA:79322 ORPHA:220295 ORPHA:2396 OMIM:252600 ORPHA:5 OMIM:603903 ORPHA:3287 ORPHA:217093 ORPHA:217085 ORPHA:93473 ORPHA:769 ORPHA:2526 ORPHA:2505 ORPHA:578 OMIM:610951 OMIM:619269 OMIM:200100 ORPHA:79476 OMIM:618234 ORPHA:70474 ORPHA:812 ORPHA:90340 ORPHA:216873 ORPHA:773 OMIM:616171 ORPHA:743 ORPHA:544469 ORPHA:77301 ORPHA:71 OMIM:617562 OMIM:617563 OMIM:614970 OMIM:239000 OMIM:615988 ORPHA:225 OMIM:613843 ORPHA:478029 OMIM:616811
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.