Disease Browser
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Parent Node:
Corneal Dystrophies, Hereditary (D003317) | Parent Node:
Deafness (D003638) | ..Starting node .. Corneal Degeneration, Ribbonlike, with Deafness (C565157)
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Sister Nodes: | .. 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739) L: 00484;
| .. Albinism deafness syndrome (C537042)
| .. ALPORT SYNDROME, X-LINKED (OMIM:301050)
| .. Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
| .. Ayazi syndrome (C537793)
| .. Branchiogenic-Deafness Syndrome (C563780)
| .. Burn-Mckeown syndrome (C537411)
| .. Cardioauditory syndrome of Sanchez Cascos (C535577)
| .. Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
| .. COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
| .. Corneal Degeneration, Ribbonlike, with Deafness (C565157)
| .. Coxoauricular Syndrome (C565148)
| .. Davenport Donlan syndrome (C535988)
| .. Deaf-Blind Disorders (D054062) 26 C:2
| .. DEAFNESS AND MYOPIA (OMIM:221200)
| .. Deafness hyperuricemia neurologic ataxia (C535995)
| .. DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
| .. DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
| .. DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
| .. DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
| .. DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
| .. DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
| .. DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
| .. DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
| .. DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
| .. DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
| .. DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
| .. DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
| .. DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
| .. DEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
| .. DEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
| .. DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
| .. DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
| .. Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
| .. Deafness, congenital onychodystrophy, recessive form (C538204)
| .. Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
| .. Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
| .. Deafness, Congenital, with Vitiligo and Achalasia (C565642)
| .. DEAFNESS, X-LINKED 6 (OMIM:300914)
| .. DEAFNESS, Y-LINKED 1 (OMIM:400043)
| .. Dementia, familial Danish (C538209)
| .. Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
| .. Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
| .. Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
| .. Fine-Lubinsky syndrome (C537933)
| .. Fountain syndrome (C537270)
| .. Herrmann syndrome (C538113)
| .. Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
| .. Hyperlipoproteinemia, Type II, and Deafness (C564170)
| .. HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
| .. Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
| .. Johnson neuroectodermal syndrome (C535882)
| .. Jones syndrome (C535886)
| .. Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
| .. Konigsmark Knox Hussels syndrome (C537214)
| .. Lynch Lee Murday syndrome (C537713)
| .. MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
| .. Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| .. Meyenburg-Altherr-Uehlinger syndrome (C537574)
| .. Microcephaly deafness syndrome (C537326)
| .. MUCKLE-WELLS SYNDROME (OMIM:191900)
| .. MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| .. Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
| .. Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
| .. Nasodigitoacoustic syndrome (C538337)
| .. Nathalie syndrome (C538342)
| .. Nephrosis deafness urinary tract digital malformation (C536402)
| .. Noninsulin-dependent diabetes mellitus with deafness (C536246)
| .. Nonsyndromic Deafness (C580334)
| .. Opticocochleodentate Degeneration (C563002)
| .. PERRAULT SYNDROME 3 (OMIM:614129)
| .. Ramos Arroyo Clark syndrome (C535286)
| .. Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
| .. Richards-Rundle syndrome (C535674)
| .. Schimke X-linked mental retardation syndrome (C536630)
| .. Schlegelberger Grote syndrome (C536635)
| .. Secretory Diarrhea, Myopathy, and Deafness (C564382)
| .. Spastic paraplegia 24 (C536860)
| .. Temtamy preaxial brachydactyly syndrome (C536958)
| .. Tibia, Absence of, with Congenital Deafness (C564764)
| .. Tietz syndrome (C536919)
| .. Wells Jankovic syndrome (C536692)
| .. Wright Dyck syndrome (C536749)
| .. X-linked mental retardation Gustavson type (C536759)
| .. Yemenite deaf-blind hypopigmentation syndrome (C536771)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 3004 |
Name: | Corneal Degeneration, Ribbonlike, with Deafness |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D003317|MESH:D003638 |
TreeNumbers: | C09.218.458.341.186/C565157 |C10.597.751.418.341.186/C565157 |C11.204.236/C565157 |C11.270.162/C565157 |C16.320.290.162/C565157 |C23.888.592.763.393.341.186/C565157 |
Synonyms: | Band Keratopathy with Deafness |
Slim Mappings: | Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C565157
MeSH: C565157
OMIM: MSeqDR : Genes: GJB6; | Phenotypes | | Disease Causing ClinVar Variants | | MSeqDR Portal | |
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