Major Depressive Disorder |
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Depression |
OMIM:608516 |
Major Affective Disorder 1 |
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Depression, Mania |
OMIM:125480 |
Obsessive-Compulsive Disorder |
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Compulsive behaviors, Skin-picking, Depression, Collectionism |
OMIM:164230 |
Corneal dystrophy, lisch epithelial |
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Corneal dystrophy |
OMIM:300778 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Corneal Dystrophy, Endothelial, X-Linked |
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Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Ring Dermoid Of Cornea |
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Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Corneal Dystrophy, Groenouw Type I |
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Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Cataract-Microcornea Syndrome |
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Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Lattice Corneal Dystrophy Type I |
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Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Optic Atrophy 8 |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Anterior Segment Dysgenesis 8 |
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Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Corneal Dystrophy, Congenital Stromal |
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Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
Corneal Endothelial Dystrophy |
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Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Cataract 21, Multiple Types |
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Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Thiel-Behnke Type |
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Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy |
OMIM:609141 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Anterior Segment Dysgenesis 7 |
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Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Bilateral Acute Depigmentation Of The Iris |
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Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Cornea Plana 2, Autosomal Recessive |
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Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Epithelial Recurrent Erosion Dystrophy |
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Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Limbal Stem Cell Deficiency |
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Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... |
OMIM:614170 |
Corneal Dystrophy, Reis-Bucklers Type |
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Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Cataract 1, Multiple Types |
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Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Granular Corneal Dystrophy Type Ii |
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Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
Granular Corneal Dystrophy Type I |
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Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Leukodystrophy, Hypomyelinating, 5 |
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Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Anterior Segment Dysgenesis 6 |
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Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Autosomal Dominant Keratitis |
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Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Vernal Keratoconjunctivitis |
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Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia, Head titubation |
ORPHA:3240 |
Anterior Segment Dysgenesis 2 |
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Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Anterior Segment Dysgenesis 1 |
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Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, De... |
OMIM:229200 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Generalized Eruptive Keratoacanthoma |
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Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... |
ORPHA:252164 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Spinal Cord Injury |
|
Allodynia |
ORPHA:90058 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... |
ORPHA:101085 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megac... |
OMIM:609136 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Mogs-Cdg |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... |
ORPHA:79330 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... |
ORPHA:90321 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... |
ORPHA:909 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... |
OMIM:133540 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... |
OMIM:216400 |
Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
Episodic Pain Syndrome, Familial, 1 |
|
|
OMIM:615040 |