Disease Browser
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Parent Node: Cataract (D002386) | ..Starting node ..Cataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
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Sister Nodes: | ..Absent corpus callosum cataract immunodeficiency (C535566)
| ..Adams Nance syndrome (C538224)
| ..Adult i Blood Group with Congenital Cataract (C566214)
| ..Alpha-B Crystallinopathy (C563848)
| ..Alpha-B Crystallinopathy with Cataract (C563849)
| ..Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
| ..Anterior polar cataract 2 (C537774)
| ..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
| ..Ataxia-Microcephaly-Cataract Syndrome (C563086)
| ..Autosomal recessive nonsyndromic congenital nuclear cataract (C537298)
| ..Bassoe syndrome (C537661)
| ..Bhaskar Jagannathan syndrome (C535437)
| ..CAHMR syndrome (C537959)
| ..CAMFAK syndrome (C537965)
| ..Capsule Opacification (D058442)
| ..CATARACT 23 (OMIM:610425)
| ..CATARACT 3, MULTIPLE TYPES (OMIM:601547)
| ..CATARACT 32, MULTIPLE TYPES (OMIM:115650)
| ..CATARACT 4, MULTIPLE TYPES (OMIM:115700)
| ..CATARACT 6, MULTIPLE TYPES (OMIM:116600)
| ..Cataract and cardiomyopathy (C538280)
| ..Cataract and congenital ichthyosis (C538281)
| ..Cataract anterior polar dominant (C538282)
| ..Cataract ataxia deafness (C538283)
| ..Cataract congenital dominant non nuclear (C538284)
| ..Cataract congenital Volkmann type (C538285)
| ..Cataract Hutterite type (C538286)
| ..Cataract microcornea syndrome (C538287)
| ..Cataract, Age-Related Cortical, 1 (C563812)
| ..Cataract, Age-Related Cortical, 2 (C567814)
| ..Cataract, Age-Related Nuclear (C563333)
| ..Cataract, alopecia, sclerodactyly (C535336)
| ..Cataract, Autosomal Dominant (C565815)
| ..Cataract, Autosomal Dominant Nuclear (C565137)
| ..Cataract, Autosomal Dominant, Multiple Types 1 (C566909)
| ..Cataract, Autosomal Recessive Congenital 1 (C565136)
| ..Cataract, autosomal recessive congenital 2 (C535337)
| ..Cataract, Autosomal Recessive Congenital 3 (C567835)
| ..Cataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
| ..Cataract, Central Saccular, With Sutural Opacities (C565301)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
| ..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
| ..CATARACT, CONGENITAL OR JUVENILE (OMIM:212500)
| ..Cataract, Congenital Zonular, with Sutural Opacities (C563435)
| ..Cataract, Congenital, Cerulean Type, 2 (C563294)
| ..Cataract, Congenital, Cerulean Type, 3 (C563819)
| ..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
| ..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
| ..Cataract, Coppock-Like (C565133)
| ..Cataract, Cortical Pulverulent, Late-Onset (C563604)
| ..Cataract, Cortical, Juvenile-Onset (C566955)
| ..Cataract, Crystalline Aculeiform (C566162)
| ..Cataract, Crystalline Coralliform (C566161)
| ..Cataract, Floriform (C566160)
| ..Cataract, Juvenile, With Microcornea And Glucosuria (C567434)
| ..Cataract, Lamellar 2 (C566481)
| ..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
| ..Cataract, Nuclear Diffuse Nonprogressive (C566157)
| ..Cataract, Nuclear Progressive (C564596)
| ..Cataract, Nuclear Total (C566156)
| ..Cataract, Polymorphic and Lamellar (C563603)
| ..Cataract, posterior polar, 1 (C535339)
| ..Cataract, Posterior Polar, 2 (C565134)
| ..Cataract, posterior polar, 3 (C535343)
| ..Cataract, posterior polar, 4 (C535344)
| ..Cataract, posterior polar, 5 (C535340)
| ..Cataract, Progressive Polymorphic Cortical (C565130)
| ..Cataract, Pulverulent (C563426)
| ..Cataract, Pulverulent, Juvenile-Onset (C565703)
| ..Cataract, Punctate, Progressive Juvenile-Onset (C565131)
| ..Cataract, Sutural, with Punctate and Cerulean Opacities (C564619)
| ..Cataract, Variable Zonular Pulverulent (C565132)
| ..Cataract, zonular (C535342)
| ..Cataract, Zonular Central Nuclear (C565135)
| ..Cataract, Zonular Pulverulent 1 (C566158)
| ..Cataract, Zonular Pulverulent 3 (C566608)
| ..Cataracts, ataxia, short stature, and mental retardation (C535345)
| ..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
| ..Cerebrooculofacioskeletal Syndrome 2 (C565185)
| ..Cerebrooculofacioskeletal Syndrome 4 (C565184)
| ..Cerulean cataract (C537955)
| ..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
| ..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
| ..Cornea guttata with anterior polar cataract (C535471)
| ..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
| ..Crome syndrome (C536216)
| ..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
| ..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
| ..Dementia, familial Danish (C538209)
| ..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
| ..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
| ..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
| ..Fine-Lubinsky syndrome (C537933)
| ..Flynn Aird syndrome (C537066)
| ..Goldstein Hutt syndrome (C537282)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
| ..Hydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
| ..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
| ..Hypertrophic Neuropathy And Cataract (C565490)
| ..Kahrizi Syndrome (C567196)
| ..Karandikar Maria Kamble syndrome (C537009)
| ..Kozlowski Rafinski Klicharska syndrome (C537509)
| ..Krasnow Qazi syndrome (C537616)
| ..Leg, Absence Deformity of, with Congenital Cataract (C565442)
| ..Leukodystrophy, Hypomyelinating, 5 (C567166)
| ..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
| ..Lubinsky syndrome (C543092)
| ..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
| ..Marshall syndrome (C536025)
| ..Martsolf syndrome (C536028)
| ..Microcephalic primordial dwarfism Toriello type (C537321)
| ..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
| ..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
| ..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
| ..Microphthalmia, Isolated, with Cataract 1 (C563582)
| ..Microphthalmia, Isolated, with Cataract 2 (C565876)
| ..Microphthalmia, Isolated, with Cataract 3 (C564452)
| ..Microphthalmia, Isolated, with Cataract 4 (C566480)
| ..Microphthalmia, syndromic 2 (C537465)
| ..Mousa Al din Al Nassar syndrome (C536989)
| ..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
| ..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
| ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
| ..Nance-Horan syndrome (C538336)
| ..Nathalie syndrome (C538342)
| ..O'Donnell Pappas syndrome (C537858)
| ..Optic atrophy and cataract, autosomal dominant (C537128)
| ..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
| ..Pavone Fiumara Rizzo syndrome (C536313)
| ..Peters anomaly with cataract (C537885)
| ..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
| ..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
| ..Premature aging, Okamoto type (C535270)
| ..Schaap Taylor Baraitser syndrome (C536626)
| ..Seemanova Lesny syndrome (C537536)
| ..Seow Najjar syndrome (C537584)
| ..Singh Chhaparwal Dhanda syndrome (C537341)
| ..Slavotinek Pike Mills Hurst syndrome (C536672)
| ..Spastic paraplegia 9, autosomal dominant (C536868)
| ..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
| ..Spondyloocular Syndrome, Autosomal Recessive (C565285)
| ..Warburg Sjo Fledelius syndrome (C536681)
| ..Wellesley Carmen French syndrome (C536691)
| ..Zonular cataract and nystagmus (C536727)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 1825 |
Name: | Cataract, Autosomal Recessive, Early-Onset, Pulverulent |
Definition: | |
Alternative IDs: | OMIM:605749 |
ParentIDs: | MESH:D002386 |
TreeNumbers: | C11.510.245/C565298 |
Synonyms: | CAAR |CATARACT 26, MULTIPLE TYPES |CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT |CTRCT26 |
Slim Mappings: | Eye disease |
Reference: |
MedGen: C565298
MeSH: C565298
OMIM: 605749;
Genes: CTPL1; | Phenotypes | | Disease Causing ClinVar Variants | |
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