DiseaseID 2208
小角膜
disease
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may
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Disease: 1Experiment: 2Formula: 24Herb: 12Symptom: 12Target: 24Links: 74
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2208
- Core Entity Id
- 2485
- Source Entity Count
- 2
- Preferred Name
- Microcornea
- Name Cn
- 小角膜
- Name Pinyin
- Xiao Jiao Mo
- Name En
- Microcornea
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Eye DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesEye DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Microcornea
Role
preferred
Name
Anterior Segment Dysgenesis 1
Role
preferred
Name
Anterior Segment Dysgenesis 5
Role
preferred
Name
Axenfeld-Rieger Syndrome
Role
preferred
Name
Axenfeld-Rieger Syndrome, Type 1
Role
preferred
Name
Axenfeld-Rieger Syndrome, Type 3
Role
preferred
Name
Cataract 12, Multiple Types
Role
preferred
Name
Cataract 13 With Adult I Phenotype
Role
preferred
Name
Cataract 15, Multiple Types
Role
preferred
Name
Cataract 16, Multiple Types
Role
preferred
Name
Cataract 17, Multiple Types
Role
preferred
Name
Cataract 19, Multiple Types
Role
preferred
Name
Cataract 2, Multiple Types
Role
preferred
Name
Cataract 20, Multiple Types
Role
preferred
Name
Cataract 21, Multiple Types
Role
preferred
Name
Cataract 38
Role
preferred
Name
Cataract 39, Multiple Types
Role
preferred
Name
Cataract 4, Multiple Types
Role
preferred
Name
Cataract 40
Role
preferred
Name
Cataract 41
Role
preferred
Name
Cataract 42
Role
preferred
Name
Cataract 43
Role
preferred
Name
Cataract 44
Role
preferred
Name
Cataract 45
Role
preferred
Name
Cataract 46, Juvenile-Onset
Role
preferred
Name
Cataract 5, Multiple Types
Role
preferred
Name
Cataract 9, Multiple Types
Role
preferred
Name
Cataract, Autosomal Dominant
Role
preferred
Name
Cataract, Autosomal Recessive Congenital 1
Role
preferred
Name
Cataract-Microcornea Syndrome
Role
preferred
Name
Congenital Total Cataract
Role
preferred
Name
Glaucoma 1, Open Angle, A
Role
preferred
Name
Glaucoma 1, Open Angle, G
Role
preferred
Name
Glaucoma 1, Open Angle, O
Role
preferred
Name
Glaucoma 3, Primary Congenital, A
Role
preferred
Name
Glaucoma, Open-Angle
Role
preferred
Name
Glaucoma, Primary Open Angle
Role
preferred
Name
Anterior Polar Cataract 2
Role
preferred
Name
Anterior Segment Mesenchymal Dysgenesis
Role
preferred
Name
Axenfeld Anomaly (Disorder)
Role
preferred
Name
Axenfeld Syndrome
Role
preferred
Name
Buphthalmos
Role
preferred
Name
CATARACT 23, MULTIPLE TYPES
Role
preferred
Name
CATARACT 30
Role
preferred
Name
CATARACT 32, MULTIPLE TYPES
Role
preferred
Name
CATARACT, ANTERIOR POLAR
Role
preferred
Name
CATARACT, COPPOCK-LIKE
Role
preferred
Name
CATARACT, MARNER TYPE
Role
preferred
Name
CATARACT, POSTERIOR POLAR, 1
Role
preferred
Name
CORNEA PLANA 1
Role
preferred
Name
CORNEA PLANA 2
Role
preferred
Name
Cataract 33, Multiple Types
Role
preferred
Name
Cataract Microcornea Syndrome
Role
preferred
Name
Cataract, Autosomal Recessive Congenital 2
Role
preferred
Name
Cataract, Autosomal Recessive Congenital 3
Role
preferred
Name
Cataract, Central Saccular, With Sutural Opacities
Role
preferred
Name
Cataract, Congenital Nuclear, Autosomal Recessive 2
Role
preferred
Name
Cataract, Congenital Nuclear, Autosomal Recessive 3
Role
preferred
Name
Cataract, Congenital Zonular, With Sutural Opacities
Role
preferred
Name
Cataract, Congenital, Cerulean Type 1
Role
preferred
Name
Cataract, Congenital, Cerulean Type, 2
Role
preferred
Name
Cataract, Congenital, Cerulean Type, 3
Role
preferred
Name
Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Role
preferred
Name
Cataract, Crystalline Aculeiform
Role
preferred
Name
Cataract, Posterior Polar, 2
Role
preferred
Name
Cataract, Posterior Polar, 3
Role
preferred
Name
Cataract, Posterior Polar, 4 (Disorder)
Role
preferred
Name
Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities
Role
preferred
Name
Cataract, Pulverulent
Role
preferred
Name
Cataract, Pulverulent, Juvenile-Onset
Role
preferred
Name
Cataract, Punctate, Progressive Juvenile-Onset
Role
preferred
Name
Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Role
preferred
Name
Cataract, Zonular Pulverulent 1
Role
preferred
Name
Cataract, Zonular Pulverulent 3
Role
preferred
Name
Congenital Bilateral Cataracts
Role
preferred
Name
Congenital Cataract
Role
preferred
Name
Congenital Lamellar Cataract
Role
preferred
Name
Congenital Malformation of Cornea Nos
Role
preferred
Name
Coralliform Cataract
Role
preferred
Name
GLAUCOMA 1, OPEN ANGLE, B
Role
preferred
Name
GLAUCOMA 1, OPEN ANGLE, D (disorder)
Role
preferred
Name
GLAUCOMA 1, OPEN ANGLE, E
Role
preferred
Name
GLAUCOMA 1, OPEN ANGLE, F (disorder)
Role
preferred
Name
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
Role
preferred
Name
Glaucoma 1, Open Angle, M (Disorder)
Role
preferred
Name
Glaucoma of Childhood
Role
preferred
Name
Goniodysgenesis
Role
preferred
Name
Hydrophthalmos
Role
preferred
Name
Irido-Corneo-Trabecular Dysgenesis (Disorder)
Role
preferred
Name
Nonnuclear Polymorphic Congenital Cataract
Role
preferred
Name
Other Congenital Corneal Malformations
Role
preferred
Name
Other Congenital Malformations of Anterior Segment of Eye
Role
preferred
Name
Peters-Plus Syndrome
Role
preferred
Name
Pigment Dispersion Syndrome (Disorder)
Role
preferred
Name
Rieger Eye Malformation Sequence
Role
preferred
Name
Rieger Syndrome
Role
preferred
Name
Rieger Syndrome 2 (Disorder)
Role
preferred
Name
Secondary Open Angle Glaucoma
Role
preferred
Name
Simple Buphthalmos
Role
preferred
Name
ANTERIOR CHAMBER CLEAVAGE SYNDROME
Role
alias
Name
ANTERIOR SEGMENT OCULAR DYSGENESIS
Role
alias
Name
ASGD1
Role
alias
Name
ASGD5
Role
alias
Name
ASMD
Role
alias
Name
ASOD
Role
alias
Name
AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS
Role
alias
Name
Aculeiform Cataract
Role
alias
Name
Anterior Polar Cataract
Role
alias
Name
Anterior Segment Dysgenesis
Role
alias
Name
Axenfeld Anomaly
Role
alias
Name
Axenfeld-Rieger Syndrome Type 1
Role
alias
Name
Axenfeld-Rieger Syndrome Type 2
Role
alias
Name
Axenfeld-Rieger Syndrome Type 3
Role
alias
Name
Axenfeld-Rieger Syndrome, Type 2
Role
alias
Name
Bilateral Cataracts
Role
alias
Name
Bilateral Congenital Cataracts
Role
alias
Name
CACA
Role
alias
Name
CAM
Role
alias
Name
CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
Role
alias
Name
CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
Role
alias
Name
CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
Role
alias
Name
CATARACT 40 WITH OR WITHOUT MICROCORNEA
Role
alias
Name
CATARACT 41, CONGENITAL NUCLEAR TYPE
Role
alias
Name
CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
Role
alias
Name
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5
Role
alias
Name
CATARACT, CONGENITAL LAMELLAR
Role
alias
Name
CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES
Role
alias
Name
CATARACT, CONGENITAL, CERULEAN TYPE, 4
Role
alias
Name
CATARACT, CONGENITAL, X-LINKED
Role
alias
Name
CATARACT, JUVENILE, HUTTERITE TYPE
Role
alias
Name
CATARACT, LAMELLAR
Role
alias
Name
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL
Role
alias
Name
CATC1
Role
alias
Name
CATC5
Role
alias
Name
CATCN3
Role
alias
Name
CCA3
Role
alias
Name
CCA4
Role
alias
Name
CCL
Role
alias
Name
CCT
Role
alias
Name
CTM
Role
alias
Name
CTPP2
Role
alias
Name
CTRCT12
Role
alias
Name
CTRCT13
Role
alias
Name
CTRCT15
Role
alias
Name
CTRCT16
Role
alias
Name
CTRCT17
Role
alias
Name
CTRCT19
Role
alias
Name
CTRCT2
Role
alias
Name
CTRCT20
Role
alias
Name
CTRCT21
Role
alias
Name
CTRCT38
Role
alias
Name
CTRCT39
Role
alias
Name
CTRCT4
Role
alias
Name
CTRCT40
Role
alias
Name
CTRCT41
Role
alias
Name
CTRCT42
Role
alias
Name
CTRCT43
Role
alias
Name
CTRCT44
Role
alias
Name
CTRCT45
Role
alias
Name
CTRCT46
Role
alias
Name
CTRCT5
Role
alias
Name
CTRCT9
Role
alias
Name
CXN
Role
alias
Name
Cataract 1 Multiple Types
Role
alias
Name
Cataract 10 Multiple Types
Role
alias
Name
Cataract 11 Multiple Types
Role
alias
Name
Cataract 12 Multiple Types
Role
alias
Name
Cataract 14 Multiple Types
Role
alias
Name
Cataract 15 Multiple Types
Role
alias
Name
Cataract 16 Multiple Types
Role
alias
Name
Cataract 17 Multiple Types
Role
alias
Name
Cataract 18
Role
alias
Name
Cataract 19 Multiple Types
Role
alias
Name
Cataract 2 Multiple Types
Role
alias
Name
Cataract 20 Multiple Types
Role
alias
Name
Cataract 21 Multiple Types
Role
alias
Name
Cataract 22 Multiple Types
Role
alias
Name
Cataract 22, Multiple Types
Role
alias
Name
Cataract 23
Role
alias
Name
Cataract 24
Role
alias
Name
Cataract 25
Role
alias
Name
Cataract 26 Multiple Types
Role
alias
Name
Cataract 27
Role
alias
Name
Cataract 29
Role
alias
Name
Cataract 3 Multiple Types
Role
alias
Name
Cataract 30, Multiple Types
Role
alias
Name
Cataract 31 Multiple Types
Role
alias
Name
Cataract 32 Multiple Types
Role
alias
Name
Cataract 33
Role
alias
Name
Cataract 34 Multiple Types
Role
alias
Name
Cataract 35
Role
alias
Name
Cataract 37
Role
alias
Name
Cataract 39 Multiple Types
Role
alias
Name
Cataract 4 Multiple Types
Role
alias
Name
Cataract 46 Juvenile-Onset
Role
alias
Name
Cataract 5 Multiple Types
Role
alias
Name
Cataract 6 Multiple Types
Role
alias
Name
Cataract 7
Role
alias
Name
Cataract 8 Multiple Types
Role
alias
Name
Cataract 9 Multiple Types
Role
alias
Name
Cataract Anterior Polar
Role
alias
Name
Cataract Anterior Polar Dominant
Role
alias
Name
Cataract, Anterior Polar, 2
Role
alias
Name
Cataract, Congenital
Role
alias
Name
Cataract, Posterior Polar, 4
Role
alias
Name
Cataract, Zonular
Role
alias
Name
Cataract, Zonular Pulverulent, 1
Role
alias
Name
Cataracta Pulverulenta Centralis
Role
alias
Name
Cataracts, Congenital, Cerulean
Role
alias
Name
Cataracts, Lenticular, Bilateral
Role
alias
Name
Central Pulverulent Cataract
Role
alias
Name
Cerulean Cataract
Role
alias
Name
Childhood Glaucoma
Role
alias
Name
Clouding of The Lens of The Eye At Birth
Role
alias
Name
Congenital Cataracts
Role
alias
Name
Congenital Cataracts, Bilateral
Role
alias
Name
Congenital Glaucoma
Role
alias
Name
Coppock-Like Cataract
Role
alias
Name
Cornea Plana
Role
alias
Name
Cornea Plana 1, Autosomal Dominant
Role
alias
Name
Cornea Plana 2, Autosomal Recessive
Role
alias
Name
Cornea of Eye Less Than 10Mm In Diameter
Role
alias
Name
Ctrct30
Role
alias
Name
Fasciculiform Cataract
Role
alias
Name
Frosted Cataract
Role
alias
Name
GLAUCOMA 1, OPEN ANGLE, L
Role
alias
Name
GLAUCOMA, CONGENITAL
Role
alias
Name
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
Role
alias
Name
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1
Role
alias
Name
GLC1A
Role
alias
Name
GLC1E
Role
alias
Name
GLC1G
Role
alias
Name
GLC1L
Role
alias
Name
GLC1O
Role
alias
Name
GLC3
Role
alias
Name
GLC3A
Role
alias
Name
Glaucoma 1, Open Angle, D
Role
alias
Name
Glaucoma 1, Open Angle, F
Role
alias
Name
Glaucoma 1, Open Angle, M
Role
alias
Name
Glaucoma-Related Pigment Dispersion Syndrome
Role
alias
Name
Glc1D
Role
alias
Name
Infantile Glaucoma
Role
alias
Name
Iridogoniodysgenesis With Somatic Anomalies
Role
alias
Name
JOAG1
Role
alias
Name
Juvenile Glaucoma
Role
alias
Name
Lamellar Cataract
Role
alias
Name
Needle-Shaped Cataract
Role
alias
Name
Nuclear Pulverulent Cataract
Role
alias
Name
Open Angle Glaucoma
Role
alias
Name
Open-Angle Glaucoma
Role
alias
Name
PCC
Role
alias
Name
POAG
Role
alias
Name
Pediatric Glaucoma
Role
alias
Name
Peters Anomaly
Role
alias
Name
Pigment Dispersion Syndrome
Role
alias
Name
Posterior Polar Cataract, 1
Role
alias
Name
Primary Open Angle Glaucoma
Role
alias
Name
Primary Open-Angle Glaucoma
Role
alias
Name
Pulverulent Cataract
Role
alias
Name
Pulverulent Nuclear Cataract
Role
alias
Name
RGS
Role
alias
Name
RIEG
Role
alias
Name
RIEG1
Role
alias
Name
RIEG3
Role
alias
Name
RIEGER SYNDROME, TYPE 1
Role
alias
Name
RIEGER SYNDROME, TYPE 3
Role
alias
Name
Rieg2
Role
alias
Name
Rieger Anomaly
Role
alias
Name
Rieger Syndrome 2
Role
alias
Name
Zonular Cataract
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000482HP:0000519HP:0000557HP:0000558HP:0000659HP:0001087HP:0001134HP:0001492HP:0007971HP:0007976HP:0010693HP:0010698HP:0010920HP:0010921HP:0010926HP:0012108
Herb
HBDIS000641HBDIS001167HBDIS001414HBDIS004515HBDIS005823HBDIS006019HBDIS006020HBDIS006023HBDIS006024HBDIS006563HBDIS007314HBDIS007317HBDIS007759HBDIS008223HBDIS008234HBDIS009712HBDIS009713HBDIS013035HBDIS013166HBDIS015034HBDIS015039HBDIS015098HBDIS015142HBDIS015373HBDIS015898HBDIS015899HBDIS016876HBDIS016890HBDIS017003HBDIS017115HBDIS017299HBDIS017437HBDIS017471HBDIS017489HBDIS017573HBDIS017899HBDIS017900HBDIS017902HBDIS017903HBDIS017982HBDIS018067HBDIS018153HBDIS018223HBDIS019572HBDIS020103HBDIS020164HBDIS020516HBDIS020754HBDIS021128HBDIS021165HBDIS021502HBDIS021503HBDIS022119HBDIS022175HBDIS022176HBDIS022177HBDIS022263HBDIS022268HBDIS022274HBDIS022307HBDIS022308HBDIS022753HBDIS022758HBDIS022781HBDIS022782HBDIS022805HBDIS022806HBDIS025320HBDIS025321HBDIS025629HBDIS025710HBDIS026360HBDIS027211HBDIS027377HBDIS027807HBDIS028712HBDIS028766HBDIS028799HBDIS028925HBDIS028997HBDIS029017HBDIS029018HBDIS029036HBDIS029064HBDIS029079HBDIS029195HBDIS029201HBDIS029372HBDIS029397HBDIS029453HBDIS029461HBDIS029464HBDIS029535HBDIS029540HBDIS029550HBDIS029869
Me Sh
D005902D006871
Omim
107250115700115900116100116200116300116400116700116800121400137750137760180500212500217300231300600881601499601547601885602482603383604219604229604307605387609741609887610019610202610425610623611391611544611597613100613763614691615188615274615277616279616509616851
Umls
C0017612C0020302C0220721C0265341C0266537C0266539C0339573C0796012C1825363C1835933C1837023C1842026C1842028C1852438C1856439C1857768C1858679C1861821C1861829C1861832C1862839C1969062C2678503C2751294C2930878C3151065C3278152C3278153C3495488C3540850C3553494C3714873C3805373C3805410C3805411C3805412C3808115C3808377C3808800C3809001C3809004C3888097C3888098C3888124C3888390C3888391C3888417C4011454C4049004C4049005C4225182C4225300C4225389C4310809
Icd10
H40.1H40.10H40.13Q12.0Q13.4Q13.8Q15.0
Med Dra
10059255
Sym Map
SMDE00004SMDE00018SMDE00070SMDE00358SMDE00444SMDE00815SMDE00828SMDE00837SMDE00869SMDE00942SMDE00997SMDE01207SMDE01406SMDE01487SMDE01551SMDE01581SMDE01583SMDE01947SMDE02019SMDE02214SMDE02611SMDE02763SMDE02794SMDE03120SMDE03163SMDE03378SMDE03456SMDE03523SMDE03654SMDE03769SMDE04564SMDE04902SMDE04949SMDE04953SMDE06814SMDE06815SMDE07498SMDE09045SMDE09573
Do Class
DOID:630DOID:7
Dis Ge Net
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
Orphanet
1377709782
Umls Sty
T019T033T047
Hpo Class
HP:0000478
Me Sh Class
C10C11C13C16C23
Etcm Disease
Anterior Segment Dysgenesis 1Anterior Segment Dysgenesis 5Axenfeld-Rieger SyndromeAxenfeld-Rieger Syndrome, Type 1Axenfeld-Rieger Syndrome, Type 3Cataract 12, Multiple TypesCataract 13 with Adult I PhenotypeCataract 15, Multiple TypesCataract 16, Multiple TypesCataract 17, Multiple TypesCataract 19, Multiple TypesCataract 2, Multiple TypesCataract 20, Multiple TypesCataract 21, Multiple TypesCataract 23, Multiple TypesCataract 32, Multiple TypesCataract 33, Multiple TypesCataract 38Cataract 39, Multiple TypesCataract 4, Multiple TypesCataract 40Cataract 41Cataract 42Cataract 43Cataract 44Cataract 45Cataract 46, Juvenile-OnsetCataract 5, Multiple TypesCataract 9, Multiple TypesCataract Microcornea SyndromeGlaucoma 1, Open Angle, GGlaucoma 1, Open Angle, OGlaucoma 1, Open Angle, aGlaucoma 3, Primary Congenital, aGlaucoma, Primary Open Angle
Tcmbank Disease
103611123211246124081258512968136781465414901499515736157591607016110166501747218032201652037120757208472145822320227923876239272508025652261032630263392652526763272422739627557279582802728383284862900129012904529324294562957329688310031058312783128231307317833211632319369838984080417423546684786489351335307532556155619568668367269763883368980915294639759861
Itcmdb Generated
ITX-DISEASE-0247A6D490DCITX-DISEASE-1246D4263ADCITX-DISEASE-1893C69C7EF5ITX-DISEASE-1A17F48EDE4DITX-DISEASE-2029D7741D57ITX-DISEASE-2C9ABB6DB7E8ITX-DISEASE-3615F3CF6417ITX-DISEASE-3E53D21E2664ITX-DISEASE-407127790B3AITX-DISEASE-45428984DDBEITX-DISEASE-4D12DCD6F466ITX-DISEASE-56D6C309B66AITX-DISEASE-56F387345BA6ITX-DISEASE-597A34E973F6ITX-DISEASE-5C6C497A6EA5ITX-DISEASE-6E3D48AD0D0AITX-DISEASE-747C3555A9C1ITX-DISEASE-7905AD3B4243ITX-DISEASE-7D7D388CDD8AITX-DISEASE-89D232945641ITX-DISEASE-89F93FAA2591ITX-DISEASE-8ED2A18D4566ITX-DISEASE-9357E147AFDDITX-DISEASE-96E61A06313FITX-DISEASE-975693702D84ITX-DISEASE-9809F85E5D0FITX-DISEASE-9A69315D87B4ITX-DISEASE-9E34EFD0C8F5ITX-DISEASE-9FA346879536ITX-DISEASE-AC2CD688BFF5ITX-DISEASE-B68C33912D4CITX-DISEASE-BD0A71062F12ITX-DISEASE-C25C78DD06F0ITX-DISEASE-D078A9E137E0ITX-DISEASE-D0910B5363EDITX-DISEASE-D0C3FA4F8D4CITX-DISEASE-D5925E06C15DITX-DISEASE-D5EAFD721AB0ITX-DISEASE-E3EBA11BD525ITX-DISEASE-E54E96A640D0ITX-DISEASE-ED9B1EBBAD9DITX-DISEASE-EF50B1F8CFB0ITX-DISEASE-F301566AAA82ITX-DISEASE-F7C46DDACDE3ITX-DISEASE-F8306C22D3DFITX-DISEASE-F898AE5D8926ITX-DISEASE-FD3A490F5171
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Anterior Segment Dysgenesis 1 Details pageDisease Anterior Segment Dysgenesis 5 Details pageDisease Axenfeld-Rieger Syndrome Details pageDisease Axenfeld-Rieger Syndrome, Type 1 Details pageDisease Axenfeld-Rieger Syndrome, Type 3 Details pageDisease Cataract 12, Multiple Types Details pageDisease Cataract 13 with Adult I Phenotype Details pageDisease Cataract 15, Multiple Types Details pageDisease Cataract 16, Multiple Types Details pageDisease Cataract 17, Multiple Types Details pageDisease Cataract 19, Multiple Types Details pageDisease Cataract 2, Multiple Types Details pageDisease Cataract 20, Multiple Types Details pageDisease Cataract 21, Multiple Types Details pageDisease Cataract 23, Multiple Types Details pageDisease Cataract 32, Multiple Types Details pageDisease Cataract 33, Multiple Types Details pageDisease Cataract 38 Details pageDisease Cataract 39, Multiple Types Details pageDisease Cataract 4, Multiple Types Details pageDisease Cataract 40 Details pageDisease Cataract 41 Details pageDisease Cataract 42 Details pageDisease Cataract 43 Details pageDisease Cataract 44 Details pageDisease Cataract 45 Details pageDisease Cataract 46, Juvenile-Onset Details pageDisease Cataract 5, Multiple Types Details pageDisease Cataract 9, Multiple Types Details pageDisease Cataract Microcornea Syndrome Details pageDisease Glaucoma 1, Open Angle, G Details pageDisease Glaucoma 1, Open Angle, O Details pageDisease Glaucoma 1, Open Angle, a Details pageDisease Glaucoma 3, Primary Congenital, a Details pageDisease Glaucoma, Primary Open Angle Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding
Basic Information
Disease Name
Anterior Segment Dysgenesis 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Eye diseases
Disease Name
Anterior Segment Dysgenesis 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Eye diseases
Disease Name
Axenfeld-Rieger Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Oral diseases;Skin diseases
Disease Name
Axenfeld-Rieger Syndrome, Type 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Oral diseases;Skin diseases
Disease Name
Axenfeld-Rieger Syndrome, Type 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Oral diseases;Skin diseases
Disease Name
Cataract 12, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 13 with Adult I Phenotype
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases
Disease Name
Cataract 15, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 16, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 17, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 19, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 2, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 20, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 21, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 23, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 32, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 33, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 38
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 39, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 4, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 40
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 41
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 42
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 43
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 44
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 45
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 46, Juvenile-Onset
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 5, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract 9, Multiple Types
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cataract Microcornea Syndrome
Global Category
Rare diseases
Anatomical Category
Eye diseases
Disease Name
Glaucoma 1, Open Angle, G
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Glaucoma 1, Open Angle, O
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Glaucoma 1, Open Angle, a
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Glaucoma 3, Primary Congenital, a
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Glaucoma, Primary Open Angle
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS mayCataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.HPO2016_07_04:A type of glaucoma with optic nerve damage in an eye with evidence of significant obstruction of the functional trabecular meshwork by the peripheral iris would be classified as having primary angle closure. [HPO:probinson, pmid:11815354]MSH2017_2016_08_12:Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.|HPO2016_07_04:Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. [HPO:probinson]NCI2016_02D:A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber of the eye, short stature, cleft lip with or without cleft palate, distinctive facial features, and intellectual disability.|JABL99:Peters anomaly (central corneal leukoma, central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea) associated with short limb dwarfism and delayed mental development.NCI2016_NICHD_1602D:Optic nerve damage secondary to chronic outflow obstruction.|NCI2016_02D:Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.|MSH2017_2016_08_12:Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
Me Sh Disease Class
Eye DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesEye DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality