Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Glaucoma (HP:0000501)help
Term ID: 501
Name: Glaucoma
Synonym:
Definition: Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Comments:
Reference: HP:0000501
Genes and Diseases:
 
       Child Nodes:
........expandCongenital glaucoma (HP:0001087) help
................... HP:0000557 Buphthalmos
................... HP:0008007 Primary congenital glaucoma
................... HP:0008041 Late onset congenital glaucoma
........expandIncreased intraocular pressure (HP:0007906) help
........expandOpen angle glaucoma (HP:0012108) help
........expandAngle closure glaucoma (HP:0012109) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) 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:0000501HP:0000501Glaucoma0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent826
HP:0000501HP:0000501Glaucoma0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040283 - Occasional49
HP:0000501HP:0000501Glaucoma0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0000501HP:0000501Glaucoma0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent63
HP:0000501HP:0000501Glaucoma0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000501HP:0000501Glaucoma0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4.214
HP:0000501HP:0000501Glaucoma0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000501HP:0000501Glaucoma0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000501HP:0000501Glaucoma0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0000501HP:0000501Glaucoma0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional82
HP:0000501HP:0000501Glaucoma0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0000501HP:0000501Glaucoma0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent175
HP:0000501HP:0000501Glaucoma0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0000501HP:0000501Glaucoma0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000501HP:0000501Glaucoma0ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0000501HP:0000501Glaucoma0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000501HP:0000501Glaucoma0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000501HP:0000501Glaucoma0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040282 - Frequent8
HP:0000501HP:0000501Glaucoma0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent6
HP:0000501HP:0000501Glaucoma0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0000501HP:0000501Glaucoma0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000501HP:0000501Glaucoma0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent29
HP:0000501HP:0000501Glaucoma0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0000501HP:0000501Glaucoma0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0ASB10 CL E G H13637117185OMIM:603383GLAUCOMA 1, OPEN ANGLE, F; GLC1F54
HP:0000501HP:0000501Glaucoma0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000501HP:0000501Glaucoma0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000501HP:0000501Glaucoma0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040282 - Frequent168
HP:0000501HP:0000501Glaucoma0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0000501HP:0000501Glaucoma0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0000501HP:0000501Glaucoma0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000501HP:0000501Glaucoma0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000501HP:0000501Glaucoma0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000501HP:0000501Glaucoma0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000501HP:0000501Glaucoma0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0000501HP:0000501Glaucoma0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000501HP:0000501Glaucoma0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent114
HP:0000501HP:0000501Glaucoma0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent97
HP:0000501HP:0000501Glaucoma0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000501HP:0000501Glaucoma0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000501HP:0000501Glaucoma0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000501HP:0000501Glaucoma0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040283 - Occasional5
HP:0000501HP:0000501Glaucoma0BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0000501HP:0000501Glaucoma0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent182
HP:0000501HP:0000501Glaucoma0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000501HP:0000501Glaucoma0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent5
HP:0000501HP:0000501Glaucoma0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent76
HP:0000501HP:0000501Glaucoma0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent
HP:0000501HP:0000501Glaucoma0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent23
HP:0000501HP:0000501Glaucoma0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000501HP:0000501Glaucoma0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0000501HP:0000501Glaucoma0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0000501HP:0000501Glaucoma0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000501HP:0000501Glaucoma0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000501HP:0000501Glaucoma0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0000501HP:0000501Glaucoma0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000501HP:0000501Glaucoma0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000501HP:0000501Glaucoma0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare8
HP:0000501HP:0000501Glaucoma0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndromeHP:0040284 - Very rare2
HP:0000501HP:0000501Glaucoma0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent147
HP:0000501HP:0000501Glaucoma0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040282 - Frequent20
HP:0000501HP:0000501Glaucoma0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040282 - Frequent161
HP:0000501HP:0000501Glaucoma0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040282 - Frequent146
HP:0000501HP:0000501Glaucoma0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent17
HP:0000501HP:0000501Glaucoma0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent71
HP:0000501HP:0000501Glaucoma0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0000501HP:0000501Glaucoma0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000501HP:0000501Glaucoma0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040283 - Occasional27
HP:0000501HP:0000501Glaucoma0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000501HP:0000501Glaucoma0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0000501HP:0000501Glaucoma0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000501HP:0000501Glaucoma0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000501HP:0000501Glaucoma0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent60
HP:0000501HP:0000501Glaucoma0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent44
HP:0000501HP:0000501Glaucoma0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent164
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0000501HP:0000501Glaucoma0COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000501HP:0000501Glaucoma0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000501HP:0000501Glaucoma0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000501HP:0000501Glaucoma0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0000501HP:0000501Glaucoma0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000501HP:0000501Glaucoma0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0000501HP:0000501Glaucoma0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0000501HP:0000501Glaucoma0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000501HP:0000501Glaucoma0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000501HP:0000501Glaucoma0CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040281 - Very frequent156
HP:0000501HP:0000501Glaucoma0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent156
HP:0000501HP:0000501Glaucoma0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000501HP:0000501Glaucoma0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000501HP:0000501Glaucoma0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000501HP:0000501Glaucoma0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0000501HP:0000501Glaucoma0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent158
HP:0000501HP:0000501Glaucoma0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000501HP:0000501Glaucoma0CRYBA2 CL E G H14122395OMIM:115900Cataract 42HP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0CRYBB3 CL E G H14172400OMIM:609741Cataract 22, multiple typesHP:0040283 - Occasional22
HP:0000501HP:0000501Glaucoma0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent101
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B101
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucoma101
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H15452597ORPHA:708Peters anomaly101
HP:0000501HP:0000501Glaucoma0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0000501HP:0000501Glaucoma0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000501HP:0000501Glaucoma0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0000501HP:0000501Glaucoma0DCN CL E G H16342705OMIM:610048Corneal dystrophy, congenital stromal31
HP:0000501HP:0000501Glaucoma0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000501HP:0000501Glaucoma0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0000501HP:0000501Glaucoma0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040283 - Occasional13
HP:0000501HP:0000501Glaucoma0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0000501HP:0000501Glaucoma0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucoma54
HP:0000501HP:0000501Glaucoma0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000501HP:0000501Glaucoma0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000501HP:0000501Glaucoma0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000501HP:0000501Glaucoma0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000501HP:0000501Glaucoma0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent209
HP:0000501HP:0000501Glaucoma0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent56
HP:0000501HP:0000501Glaucoma0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield typeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040282 - Frequent59
HP:0000501HP:0000501Glaucoma0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003603ORPHA:2084Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndromeHP:0040281 - Very frequent1361
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent1361
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000501HP:0000501Glaucoma0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0000501HP:0000501Glaucoma0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0000501HP:0000501Glaucoma0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0000501HP:0000501Glaucoma0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0000501HP:0000501Glaucoma0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0000501HP:0000501Glaucoma0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000501HP:0000501Glaucoma0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0000501HP:0000501Glaucoma0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040283 - Occasional184
HP:0000501HP:0000501Glaucoma0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0000501HP:0000501Glaucoma0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000501HP:0000501Glaucoma0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0000501HP:0000501Glaucoma0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.HP:0003621 - Juvenile onset63
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent63
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridiaHP:0040282 - Frequent63
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H22963800ORPHA:708Peters anomaly63
HP:0000501HP:0000501Glaucoma0FOXE3 CL E G H23013808ORPHA:708Peters anomaly23
HP:0000501HP:0000501Glaucoma0FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated.263
HP:0000501HP:0000501Glaucoma0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent26
HP:0000501HP:0000501Glaucoma0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000501HP:0000501Glaucoma0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000501HP:0000501Glaucoma0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000501HP:0000501Glaucoma0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0000501HP:0000501Glaucoma0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0000501HP:0000501Glaucoma0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0000501HP:0000501Glaucoma0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0000501HP:0000501Glaucoma0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0000501HP:0000501Glaucoma0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0000501HP:0000501Glaucoma0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0000501HP:0000501Glaucoma0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000501HP:0000501Glaucoma0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0000501HP:0000501Glaucoma0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0000501HP:0000501Glaucoma0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent36
HP:0000501HP:0000501Glaucoma0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia.
HP:0000501HP:0000501Glaucoma0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000501HP:0000501Glaucoma0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0000501HP:0000501Glaucoma0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent86
HP:0000501HP:0000501Glaucoma0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000501HP:0000501Glaucoma0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000501HP:0000501Glaucoma0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0000501HP:0000501Glaucoma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0000501HP:0000501Glaucoma0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0000501HP:0000501Glaucoma0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0000501HP:0000501Glaucoma0IDUA CL E G H34255391OMIM:607014Hurler syndromeHP:0040283 - Occasional115
HP:0000501HP:0000501Glaucoma0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040281 - Very frequent115
HP:0000501HP:0000501Glaucoma0IDUA CL E G H34255391OMIM:607016Scheie syndromeHP:0040283 - Occasional115
HP:0000501HP:0000501Glaucoma0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000501HP:0000501Glaucoma0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000501HP:0000501Glaucoma0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent148
HP:0000501HP:0000501Glaucoma0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0000501HP:0000501Glaucoma0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0000501HP:0000501Glaucoma0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare65
HP:0000501HP:0000501Glaucoma0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent52
HP:0000501HP:0000501Glaucoma0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0000501HP:0000501Glaucoma0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent120
HP:0000501HP:0000501Glaucoma0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000501HP:0000501Glaucoma0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0000501HP:0000501Glaucoma0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000501HP:0000501Glaucoma0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0000501HP:0000501Glaucoma0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent42
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0000501HP:0000501Glaucoma0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000501HP:0000501Glaucoma0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000501HP:0000501Glaucoma0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0000501HP:0000501Glaucoma0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0000501HP:0000501Glaucoma0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent62
HP:0000501HP:0000501Glaucoma0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0000501HP:0000501Glaucoma0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40536715ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent123
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D123
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B123
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent123
HP:0000501HP:0000501Glaucoma0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000501HP:0000501Glaucoma0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0000501HP:0000501Glaucoma0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0000501HP:0000501Glaucoma0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessiveHP:0040283 - Occasional4
HP:0000501HP:0000501Glaucoma0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent53
HP:0000501HP:0000501Glaucoma0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000501HP:0000501Glaucoma0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent75
HP:0000501HP:0000501Glaucoma0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0MFRP CL E G H8355218121ORPHA:35612NanophthalmosHP:0040281 - Very frequent26
HP:0000501HP:0000501Glaucoma0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndromeHP:0040284 - Very rare5
HP:0000501HP:0000501Glaucoma0MYOC CL E G H46537610ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent47
HP:0000501HP:0000501Glaucoma0MYOC CL E G H46537610OMIM:137750Glaucoma 1, open angle, A.47
HP:0000501HP:0000501Glaucoma0MYOC CL E G H46537610ORPHA:98977Juvenile glaucoma47
HP:0000501HP:0000501Glaucoma0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000501HP:0000501Glaucoma0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000501HP:0000501Glaucoma0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000501HP:0000501Glaucoma0NDP CL E G H46937678ORPHA:190Coats diseaseHP:0040282 - Frequent39
HP:0000501HP:0000501Glaucoma0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000501HP:0000501Glaucoma0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000501HP:0000501Glaucoma0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000501HP:0000501Glaucoma0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000501HP:0000501Glaucoma0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0000501HP:0000501Glaucoma0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000501HP:0000501Glaucoma0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000501HP:0000501Glaucoma0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000501HP:0000501Glaucoma0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000501HP:0000501Glaucoma0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040283 - Occasional88
HP:0000501HP:0000501Glaucoma0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0000501HP:0000501Glaucoma0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0000501HP:0000501Glaucoma0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040282 - Frequent187
HP:0000501HP:0000501Glaucoma0NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0000501HP:0000501Glaucoma0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent58
HP:0000501HP:0000501Glaucoma0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0000501HP:0000501Glaucoma0NTF4 CL E G H49098024OMIM:613100Glaucoma 1, open angle, O4
HP:0000501HP:0000501Glaucoma0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000501HP:0000501Glaucoma0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000501HP:0000501Glaucoma0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent201
HP:0000501HP:0000501Glaucoma0OPTN CL E G H1013317142OMIM:137760Glaucoma, primary open angle62
HP:0000501HP:0000501Glaucoma0OTX2 CL E G H50158522ORPHA:35612NanophthalmosHP:0040281 - Very frequent41
HP:0000501HP:0000501Glaucoma0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000501HP:0000501Glaucoma0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H50808620ORPHA:250923Isolated aniridiaHP:0040282 - Frequent194
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H50808620ORPHA:708Peters anomaly194
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040283 - Occasional194
HP:0000501HP:0000501Glaucoma0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040282 - Frequent531
HP:0000501HP:0000501Glaucoma0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent116
HP:0000501HP:0000501Glaucoma0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent126
HP:0000501HP:0000501Glaucoma0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent18
HP:0000501HP:0000501Glaucoma0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000501HP:0000501Glaucoma0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040283 - Occasional169
HP:0000501HP:0000501Glaucoma0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040283 - Occasional75
HP:0000501HP:0000501Glaucoma0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040283 - Occasional4
HP:0000501HP:0000501Glaucoma0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040283 - Occasional65
HP:0000501HP:0000501Glaucoma0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040283 - Occasional66
HP:0000501HP:0000501Glaucoma0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040283 - Occasional46
HP:0000501HP:0000501Glaucoma0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040283 - Occasional59
HP:0000501HP:0000501Glaucoma0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040283 - Occasional62
HP:0000501HP:0000501Glaucoma0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040283 - Occasional82
HP:0000501HP:0000501Glaucoma0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040283 - Occasional106
HP:0000501HP:0000501Glaucoma0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040283 - Occasional47
HP:0000501HP:0000501Glaucoma0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040283 - Occasional99
HP:0000501HP:0000501Glaucoma0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040283 - Occasional98
HP:0000501HP:0000501Glaucoma0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000501HP:0000501Glaucoma0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000501HP:0000501Glaucoma0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent51
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H53089005ORPHA:708Peters anomaly51
HP:0000501HP:0000501Glaucoma0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040282 - Frequent11
HP:0000501HP:0000501Glaucoma0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000501HP:0000501Glaucoma0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000501HP:0000501Glaucoma0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent180
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent180
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0000501HP:0000501Glaucoma0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0000501HP:0000501Glaucoma0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent213
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent221
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0000501HP:0000501Glaucoma0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent39
HP:0000501HP:0000501Glaucoma0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0000501HP:0000501Glaucoma0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent110
HP:0000501HP:0000501Glaucoma0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0000501HP:0000501Glaucoma0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent70
HP:0000501HP:0000501Glaucoma0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0000501HP:0000501Glaucoma0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent51
HP:0000501HP:0000501Glaucoma0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent94
HP:0000501HP:0000501Glaucoma0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent159
HP:0000501HP:0000501Glaucoma0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000501HP:0000501Glaucoma0PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040284 - Very rare49
HP:0000501HP:0000501Glaucoma0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000501HP:0000501Glaucoma0PRSS56 CL E G H64696039433ORPHA:35612NanophthalmosHP:0040281 - Very frequent11
HP:0000501HP:0000501Glaucoma0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0000501HP:0000501Glaucoma0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000501HP:0000501Glaucoma0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0000501HP:0000501Glaucoma0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000501HP:0000501Glaucoma0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000501HP:0000501Glaucoma0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare3
HP:0000501HP:0000501Glaucoma0PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040282 - Frequent3
HP:0000501HP:0000501Glaucoma0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040282 - Frequent57
HP:0000501HP:0000501Glaucoma0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0000501HP:0000501Glaucoma0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0000501HP:0000501Glaucoma0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0000501HP:0000501Glaucoma0RAX CL E G H3006218662ORPHA:35612NanophthalmosHP:0040281 - Very frequent43
HP:0000501HP:0000501Glaucoma0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040282 - Frequent68
HP:0000501HP:0000501Glaucoma0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent108
HP:0000501HP:0000501Glaucoma0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0000501HP:0000501Glaucoma0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000501HP:0000501Glaucoma0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0000501HP:0000501Glaucoma0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0000501HP:0000501Glaucoma0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent107
HP:0000501HP:0000501Glaucoma0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000501HP:0000501Glaucoma0RIGI CL E G H2358619102OMIM:616298Singleton-Merten syndrome 2.
HP:0000501HP:0000501Glaucoma0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0000501HP:0000501Glaucoma0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000501HP:0000501Glaucoma0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000501HP:0000501Glaucoma0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000501HP:0000501Glaucoma0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0000501HP:0000501Glaucoma0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent38
HP:0000501HP:0000501Glaucoma0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent111
HP:0000501HP:0000501Glaucoma0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent284
HP:0000501HP:0000501Glaucoma0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0000501HP:0000501Glaucoma0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0000501HP:0000501Glaucoma0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent129
HP:0000501HP:0000501Glaucoma0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent200
HP:0000501HP:0000501Glaucoma0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0000501HP:0000501Glaucoma0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0000501HP:0000501Glaucoma0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0000501HP:0000501Glaucoma0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0000501HP:0000501Glaucoma0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0000501HP:0000501Glaucoma0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0000501HP:0000501Glaucoma0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0000501HP:0000501Glaucoma0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0000501HP:0000501Glaucoma0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0000501HP:0000501Glaucoma0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0000501HP:0000501Glaucoma0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0000501HP:0000501Glaucoma0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0000501HP:0000501Glaucoma0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0000501HP:0000501Glaucoma0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0000501HP:0000501Glaucoma0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0000501HP:0000501Glaucoma0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0000501HP:0000501Glaucoma0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0000501HP:0000501Glaucoma0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0000501HP:0000501Glaucoma0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0000501HP:0000501Glaucoma0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0000501HP:0000501Glaucoma0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0000501HP:0000501Glaucoma0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5HP:0040283 - Occasional125
HP:0000501HP:0000501Glaucoma0RS1 CL E G H624710457ORPHA:792X-linked retinoschisisHP:0040281 - Very frequent148
HP:0000501HP:0000501Glaucoma0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent32
HP:0000501HP:0000501Glaucoma0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000501HP:0000501Glaucoma0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000501HP:0000501Glaucoma0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0000501HP:0000501Glaucoma0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0000501HP:0000501Glaucoma0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0000501HP:0000501Glaucoma0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000501HP:0000501Glaucoma0SIX6 CL E G H499010892ORPHA:35612NanophthalmosHP:0040281 - Very frequent20
HP:0000501HP:0000501Glaucoma0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophyHP:0040283 - Occasional20
HP:0000501HP:0000501Glaucoma0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000501HP:0000501Glaucoma0SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional68
HP:0000501HP:0000501Glaucoma0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0000501HP:0000501Glaucoma0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0000501HP:0000501Glaucoma0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0000501HP:0000501Glaucoma0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0000501HP:0000501Glaucoma0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent83
HP:0000501HP:0000501Glaucoma0SOX2 CL E G H665711195ORPHA:35612NanophthalmosHP:0040281 - Very frequent33
HP:0000501HP:0000501Glaucoma0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0000501HP:0000501Glaucoma0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0000501HP:0000501Glaucoma0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040284 - Very rare2
HP:0000501HP:0000501Glaucoma0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0000501HP:0000501Glaucoma0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0000501HP:0000501Glaucoma0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000501HP:0000501Glaucoma0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000501HP:0000501Glaucoma0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000501HP:0000501Glaucoma0TEK CL E G H701011724ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent78
HP:0000501HP:0000501Glaucoma0TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E.78
HP:0000501HP:0000501Glaucoma0TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B78
HP:0000501HP:0000501Glaucoma0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000501HP:0000501Glaucoma0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy.95
HP:0000501HP:0000501Glaucoma0TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0TMEM98 CL E G H2602224529ORPHA:35612NanophthalmosHP:0040281 - Very frequent3
HP:0000501HP:0000501Glaucoma0TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 43
HP:0000501HP:0000501Glaucoma0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent61
HP:0000501HP:0000501Glaucoma0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040282 - Frequent2
HP:0000501HP:0000501Glaucoma0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000501HP:0000501Glaucoma0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000501HP:0000501Glaucoma0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0000501HP:0000501Glaucoma0TRIM44 CL E G H5476519016OMIM:617142Aniridia 3HP:0040283 - Occasional1
HP:0000501HP:0000501Glaucoma0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridiaHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent2
HP:0000501HP:0000501Glaucoma0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0000501HP:0000501Glaucoma0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent41
HP:0000501HP:0000501Glaucoma0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0000501HP:0000501Glaucoma0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent66
HP:0000501HP:0000501Glaucoma0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0000501HP:0000501Glaucoma0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent777
HP:0000501HP:0000501Glaucoma0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180
HP:0000501HP:0000501Glaucoma0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000501HP:0000501Glaucoma0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0000501HP:0000501Glaucoma0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000501HP:0000501Glaucoma0WDR36 CL E G H13443030696OMIM:609887Glaucoma 1, open angle, G124
HP:0000501HP:0000501Glaucoma0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0000501HP:0000501Glaucoma0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0000501HP:0000501Glaucoma0WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominantHP:0040283 - Occasional389
HP:0000501HP:0000501Glaucoma0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000501HP:0000501Glaucoma0WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040283 - Occasional177
HP:0000501HP:0000501Glaucoma0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0000501HP:0000501Glaucoma0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040283 - Occasional2
HP:0000501HP:0000501Glaucoma0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040282 - Frequent45
HP:0000501HP:0000501Glaucoma0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8
HP:0000501HP:0000501Glaucoma0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000501HP:0000501Glaucoma0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0000501HP:0000501Glaucoma0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0000501HP:0000501Glaucoma0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent27
HP:0000501HP:0000501Glaucoma0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0000501HP:0000501Glaucoma0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040284 - Very rare5
HP:0000501HP:0032119Narrow angle glaucoma1 CL E G H
HP:0000501HP:0001087Developmental glaucoma1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000501HP:0001087Developmental glaucoma1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000501HP:0001087Developmental glaucoma1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000501HP:0001087Developmental glaucoma1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000501HP:0012108Open angle glaucoma1ASB10 CL E G H13637117185OMIM:603383GLAUCOMA 1, OPEN ANGLE, F; GLC1F54
HP:0000501HP:0001087Developmental glaucoma1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000501HP:0012109Angle closure glaucoma1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000501HP:0001087Developmental glaucoma1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000501HP:0001087Developmental glaucoma1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000501HP:0001087Developmental glaucoma1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0000501HP:0001087Developmental glaucoma1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000501HP:0012109Angle closure glaucoma1COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000501HP:0001087Developmental glaucoma1CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000501HP:0001087Developmental glaucoma1CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0000501HP:0001087Developmental glaucoma1CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B101
HP:0000501HP:0012108Open angle glaucoma1CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent101
HP:0000501HP:0001087Developmental glaucoma1CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040282 - Frequent101
HP:0000501HP:0001087Developmental glaucoma1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0000501HP:0001087Developmental glaucoma1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0000501HP:0012108Open angle glaucoma1EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent54
HP:0000501HP:0012108Open angle glaucoma1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000501HP:0012108Open angle glaucoma1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000501HP:0001087Developmental glaucoma1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0000501HP:0012108Open angle glaucoma1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000501HP:0001087Developmental glaucoma1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000501HP:0001087Developmental glaucoma1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000501HP:0001087Developmental glaucoma1FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040283 - Occasional493
HP:0000501HP:0001087Developmental glaucoma1FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040282 - Frequent63
HP:0000501HP:0001087Developmental glaucoma1FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040282 - Frequent23
HP:0000501HP:0001087Developmental glaucoma1FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 13
HP:0000501HP:0012109Angle closure glaucoma1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000501HP:0001087Developmental glaucoma1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000501HP:0001087Developmental glaucoma1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000501HP:0001087Developmental glaucoma1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000501HP:0001087Developmental glaucoma1GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0000501HP:0001087Developmental glaucoma1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000501HP:0001087Developmental glaucoma1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000501HP:0001087Developmental glaucoma1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0000501HP:0012108Open angle glaucoma1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000501HP:0012109Angle closure glaucoma1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0000501HP:0001087Developmental glaucoma1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000501HP:0001087Developmental glaucoma1LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D123
HP:0000501HP:0001087Developmental glaucoma1LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B123
HP:0000501HP:0001087Developmental glaucoma1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000501HP:0001087Developmental glaucoma1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitusHP:0040284 - Very rare
HP:0000501HP:0012108Open angle glaucoma1MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent47
HP:0000501HP:0001087Developmental glaucoma1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0000501HP:0001087Developmental glaucoma1NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000501HP:0012109Angle closure glaucoma1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000501HP:0001087Developmental glaucoma1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000501HP:0012108Open angle glaucoma1NTF4 CL E G H49098024OMIM:613100Glaucoma 1, open angle, O.4
HP:0000501HP:0001087Developmental glaucoma1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000501HP:0012108Open angle glaucoma1OPTN CL E G H1013317142OMIM:137760Glaucoma, primary open angle.62
HP:0000501HP:0001087Developmental glaucoma1PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040282 - Frequent194
HP:0000501HP:0001087Developmental glaucoma1PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040282 - Frequent51
HP:0000501HP:0012108Open angle glaucoma1POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0000501HP:0001087Developmental glaucoma1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000501HP:0001087Developmental glaucoma1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000501HP:0001087Developmental glaucoma1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000501HP:0001087Developmental glaucoma1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000501HP:0001087Developmental glaucoma1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000501HP:0001087Developmental glaucoma1PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0000501HP:0001087Developmental glaucoma1PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000501HP:0001087Developmental glaucoma1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000501HP:0001087Developmental glaucoma1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000501HP:0001087Developmental glaucoma1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000501HP:0001087Developmental glaucoma1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000501HP:0001087Developmental glaucoma1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000501HP:0001087Developmental glaucoma1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000501HP:0001087Developmental glaucoma1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000501HP:0001087Developmental glaucoma1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000501HP:0001087Developmental glaucoma1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000501HP:0001087Developmental glaucoma1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000501HP:0001087Developmental glaucoma1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000501HP:0001087Developmental glaucoma1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000501HP:0001087Developmental glaucoma1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000501HP:0001087Developmental glaucoma1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000501HP:0001087Developmental glaucoma1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000501HP:0001087Developmental glaucoma1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000501HP:0001087Developmental glaucoma1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000501HP:0001087Developmental glaucoma1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0000501HP:0001087Developmental glaucoma1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000501HP:0001087Developmental glaucoma1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000501HP:0001087Developmental glaucoma1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000501HP:0001087Developmental glaucoma1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000501HP:0001087Developmental glaucoma1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000501HP:0001087Developmental glaucoma1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000501HP:0001087Developmental glaucoma1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000501HP:0001087Developmental glaucoma1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000501HP:0001087Developmental glaucoma1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000501HP:0001087Developmental glaucoma1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000501HP:0001087Developmental glaucoma1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000501HP:0001087Developmental glaucoma1TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B78
HP:0000501HP:0012109Angle closure glaucoma1TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 43
HP:0000501HP:0001087Developmental glaucoma1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000501HP:0001087Developmental glaucoma1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000501HP:0001087Developmental glaucoma1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0000501HP:0012108Open angle glaucoma1WDR36 CL E G H13443030696OMIM:609887Glaucoma 1, open angle, G.124
HP:0000501HP:0008007Primary congenital glaucoma2ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000501HP:0000557Buphthalmos2ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000501HP:0000557Buphthalmos2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000501HP:0000557Buphthalmos2ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000501HP:0000557Buphthalmos2ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000501HP:0000557Buphthalmos2CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0000501HP:0008041Late onset congenital glaucoma2CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0000501HP:0008007Primary congenital glaucoma2CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B.101
HP:0000501HP:0000557Buphthalmos2DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040283 - Occasional108
HP:0000501HP:0000557Buphthalmos2DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000501HP:0000557Buphthalmos2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000501HP:0000557Buphthalmos2FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000501HP:0000557Buphthalmos2FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000501HP:0000557Buphthalmos2FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000501HP:0000557Buphthalmos2FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000501HP:0000557Buphthalmos2GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0000501HP:0000557Buphthalmos2GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0000501HP:0000557Buphthalmos2LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000501HP:0008007Primary congenital glaucoma2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000501HP:0008007Primary congenital glaucoma2LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D.123
HP:0000501HP:0008007Primary congenital glaucoma2LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B.123
HP:0000501HP:0000557Buphthalmos2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000501HP:0000557Buphthalmos2NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000501HP:0000557Buphthalmos2NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000501HP:0000557Buphthalmos2NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000501HP:0000557Buphthalmos2OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000501HP:0000557Buphthalmos2POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000501HP:0000557Buphthalmos2POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000501HP:0000557Buphthalmos2POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000501HP:0000557Buphthalmos2POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000501HP:0000557Buphthalmos2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000501HP:0000557Buphthalmos2PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0000501HP:0008007Primary congenital glaucoma2RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0000501HP:0000557Buphthalmos2SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000501HP:0000557Buphthalmos2SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000501HP:0008007Primary congenital glaucoma2TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B.78
HP:0000501HP:0000557Buphthalmos2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (359) :ABCA4 ACVR1 ADA2 ADAMTS10 ADAMTS17 ADAMTS3 ADAMTSL1 ADAR AGBL5 AGK AHI1 AHR AKT1 ALDH1A3 ANKLE2 ANKRD55 ANTXR1 ARHGEF18 ARL2BP ARL3 ARL6 ARSB ARVCF ASB10 ATOH7 ATR ATRIP B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GAT1 BAZ1B BBS1 BBS2 BCL7B BCOR BDNF BEST1 BRD4 BTNL2 BUB1 BUB1B BUB3 BUD23 CA4 CANT1 CBS CCBE1 CCDC22 CCDC28B CD247 CDH11 CDHR1 CENPE CENPJ CEP152 CEP57 CERKL CFAP418 CHRDL1 CHST14 CHST3 CISD2 CLIP2 CLN3 CLRN1 CNGA1 CNGB1 COL11A1 COL18A1 COL2A1 COL3A1 COL4A1 COL8A2 COMT COX7B CRB1 CREBBP CRPPA CRX CRYAA CRYBA2 CRYBB3 CSGALNACT1 CYP1B1 DAG1 DCN DHCR7 DHDDS DHX38 DNAJC30 DSE EBP EFEMP1 EIF4H ELN EP300 ESCO2 EXOSC2 EYS FAM161A FAM50A FAS FAT4 FBN1 FGF10 FGFR2 FGFR3 FKBP6 FKRP FKTN FLNA FOXC1 FOXE3 FREM2 FSCN2 FUT8 FZD4 GATA1 GJA1 GJB3 GJB4 GLIS3 GMPPB GNAQ GP1BB GRHL2 GSN GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GZF1 HCCS HDAC8 HGSNAT HIRA HLA-DRB1 HRAS IDH3A IDH3B IDUA IFIH1 IFT140 IFT172 IFT88 IL2RA IL2RB IMPDH1 IMPG1 IMPG2 JMJD1C KDSR KIAA1549 KIF11 KIZ KLHL7 LARGE1 LIMK1 LMBRD2 LMX1B LOXL1 LRAT LRP5 LSM11 LTBP2 MAB21L1 MAF MAFA MAG MAK MASP1 MERTK METTL27 MFRP MLXIPL MYMK MYOC NAA10 NCAPG2 NCF1 NDP NDUFB11 NEK2 NF1 NFIX NHS NIPBL NLRP3 NOD2 NR2E3 NRL NTF4 NUP85 OCRL OFD1 OPTN OTX2 OVOL2 PAX6 PCARE PCNT PDE6A PDE6B PDE6G PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3C2A PIK3R1 PITX2 PLK4 PLOD1 POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRSS56 PTCH1 PTCH2 PTEN PTPN2 PTPN22 PUS1 PXDN PYCR1 RAD21 RAX RBBP8 RBP3 RDH12 RECQL4 REEP6 RFC2 RGR RHO RHOA RIGI RLBP1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RRM2B RS1 RXYLT1 SAG SAMHD1 SBF2 SCAPER SEC24C SEMA4A SH3PXD2B SIX6 SKIC2 SKIC3 SLC25A4 SLC4A4 SLC7A14 SMC1A SMC3 SNRNP200 SOX2 SPATA7 SRY STAT4 STUB1 STX1A SUFU TBC1D20 TBL2 TBX1 TEK TGFB1 TIMP3 TKFC TMEM270 TMEM98 TOPORS TRAIP TREX1 TRIM44 TRIP13 TSR2 TTC8 TUB TULP1 TWIST1 UFD1 USH2A VCAN VPS37D VSX1 WASHC5 WDR36 WFS1 WT1 XYLT1 YAP1 YARS2 ZEB1 ZMIZ1 ZNF408 ZNF469 ZNF513 ZSWIM6

Diseases (203) :ORPHA:791 ORPHA:337 ORPHA:124 ORPHA:3449 OMIM:277600 OMIM:613195 ORPHA:2136 ORPHA:521445 ORPHA:51 ORPHA:1369 OMIM:212350 ORPHA:744 ORPHA:35612 OMIM:616681 ORPHA:85410 OMIM:230740 ORPHA:2067 OMIM:209900 OMIM:253200 ORPHA:567 OMIM:603383 ORPHA:91495 OMIM:221900 ORPHA:808 ORPHA:588 ORPHA:899 ORPHA:536467 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:904 ORPHA:568 OMIM:300166 ORPHA:2712 ORPHA:893 OMIM:193220 ORPHA:199 ORPHA:797 ORPHA:1052 OMIM:251450 ORPHA:1425 ORPHA:394 OMIM:236200 OMIM:235510 ORPHA:7 OMIM:211380 OMIM:309300 OMIM:601776 ORPHA:2953 ORPHA:3463 OMIM:204200 ORPHA:228346 ORPHA:560 OMIM:154780 OMIM:604841 OMIM:618880 OMIM:267750 OMIM:108300 ORPHA:286 OMIM:175780 ORPHA:98973 ORPHA:2556 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:614643 OMIM:604219 OMIM:115900 OMIM:609741 OMIM:617315 ORPHA:98976 OMIM:231300 OMIM:600975 ORPHA:98977 ORPHA:708 ORPHA:370997 OMIM:616538 OMIM:610048 ORPHA:818 OMIM:302960 ORPHA:353284 ORPHA:3103 OMIM:617763 OMIM:300261 ORPHA:3437 ORPHA:2084 OMIM:154700 ORPHA:2833 OMIM:608328 ORPHA:2363 OMIM:101400 OMIM:236670 ORPHA:272 ORPHA:90652 OMIM:601631 ORPHA:782 OMIM:602482 ORPHA:250923 OMIM:123570 OMIM:618005 ORPHA:317 OMIM:164200 ORPHA:2710 OMIM:610199 ORPHA:624 OMIM:185300 ORPHA:3205 ORPHA:85448 OMIM:617662 OMIM:181000 ORPHA:2874 ORPHA:93473 OMIM:607014 ORPHA:93474 OMIM:607016 OMIM:182250 ORPHA:2526 OMIM:619694 OMIM:161200 ORPHA:2614 OMIM:177650 ORPHA:2788 OMIM:613086 OMIM:251750 OMIM:618479 ORPHA:1272 OMIM:147630 OMIM:616680 OMIM:257920 OMIM:254940 OMIM:137750 OMIM:618460 ORPHA:190 ORPHA:649 OMIM:310600 ORPHA:97685 OMIM:162200 OMIM:602535 OMIM:302350 ORPHA:627 ORPHA:575 ORPHA:90340 OMIM:186580 OMIM:613100 OMIM:309000 ORPHA:534 OMIM:137760 OMIM:122000 OMIM:106210 OMIM:604229 OMIM:214100 ORPHA:912 ORPHA:557003 OMIM:618440 OMIM:269880 ORPHA:3163 OMIM:137600 OMIM:180500 OMIM:225400 ORPHA:1900 OMIM:619425 OMIM:253280 OMIM:613150 ORPHA:90354 OMIM:300661 ORPHA:411543 OMIM:619539 OMIM:109400 ORPHA:377 ORPHA:2598 OMIM:269400 OMIM:614438 OMIM:268400 OMIM:618727 OMIM:616298 ORPHA:2636 OMIM:105650 OMIM:613077 ORPHA:792 ORPHA:99956 OMIM:604563 OMIM:249420 OMIM:212550 ORPHA:84064 OMIM:604278 ORPHA:1772 ORPHA:412057 OMIM:615663 OMIM:617272 ORPHA:1328 OMIM:136900 OMIM:615972 OMIM:225750 ORPHA:247691 OMIM:617142 OMIM:143200 OMIM:609887 ORPHA:411590 OMIM:614296 ORPHA:1473 OMIM:618659 OMIM:603671 ORPHA:1827
 

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