| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Retinitis Pigmentosa 24 |
|
Rod-cone dystrophy, Cone dystrophy |
OMIM:300155 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Drusen, Reticular pigmentary degeneration |
OMIM:267800 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
| Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:618513 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 33 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:610359 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy |
OMIM:600790 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... |
ORPHA:179 |
| Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Exaggerated startle response |
OMIM:608800 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharosp... |
OMIM:608643 |
| Irvan Syndrome |
|
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... |
ORPHA:209943 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... |
OMIM:616188 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Hypothermia |
ORPHA:29822 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Hypothermia |
OMIM:614654 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Kleine-Levin Syndrome |
|
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Fever, Repetitive compulsive behavio... |
ORPHA:33543 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Fever |
ORPHA:30925 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
| Central Diabetes Insipidus |
|
Polydipsia, Fever, Anorexia |
ORPHA:178029 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Allodynia |
ORPHA:51890 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| N-Acetylglutamate Synthase Deficiency |
|
Anorexia, Hypothermia, Aggressive behavior |
OMIM:237310 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Recurrent fever |
OMIM:619468 |
| Meningococcal Meningitis |
|
Anorexia, Fever, Hypothermia |
ORPHA:33475 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Familial Cold Urticaria |
|
Polydipsia, Fever |
ORPHA:47045 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
| Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
| Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Tremor, Temperature instability, Intention tremor, Action tremor, Upper limb postura... |
ORPHA:99027 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Fever, Hypothermia |
ORPHA:20 |
| Neuroleptic Malignant Syndrome |
|
Agitation, Hypothermia, Oculogyric crisis, Tremor, Fever, Dysphagia |
ORPHA:94093 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Alexander Disease |
|
Self-injurious behavior, Tremor, Hypothermia, Dysphagia |
ORPHA:58 |
| Spinal Cord Injury |
|
Allodynia |
ORPHA:90058 |
| Sepsis In Premature Infants |
|
Fever, Hypothermia, Temperature instability |
ORPHA:90051 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Nephronophthisis 9 |
|
Polydipsia |
OMIM:613824 |
| Cystinosis |
|
Polydipsia, Fever, Motor stereotypy |
ORPHA:213 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Unexplained fevers |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Unexplained fevers |
OMIM:304800 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Dystonia, Hypothermia, Dysphagia |
ORPHA:255210 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia |
ORPHA:159 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Compulsive behaviors, Intention tremor, Abnormal drinking behavior, Unexplained fe... |
ORPHA:209905 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Choreoathetosis, Dystonia, Hypothermia, Aggressive behavior |
ORPHA:17 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Fever, Anorexia |
ORPHA:223 |
| East Syndrome |
|
Polydipsia, Action tremor, Salt craving |
ORPHA:199343 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Hypothermia, Polyphagia, Compulsive behaviors, Fever, Self-injurious behavior, Aggres... |
ORPHA:293987 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Attention deficit hyperactivity disorder, Hypothermia |
ORPHA:90674 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Tremor, Polyphagia, Hyperactivity |
ORPHA:525731 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hypothermia |
ORPHA:31826 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia, Exaggerated startle response, Stereotypical hand wringing, Dystonia, Dysphagia |
ORPHA:438213 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Whipple Disease |
|
Polydipsia, Fever, Anorexia |
ORPHA:3452 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Athetosis |
ORPHA:369929 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia, Nail-biting, Hyperactivity, Impulsivity, Unexplained fevers, Recurrent fever, Dyspha... |
ORPHA:642 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia |
ORPHA:79282 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
| Helix Syndrome |
|
Polydipsia, Heat intolerance |
OMIM:617671 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Fever, Hypothermia, Aggressive behavior |
ORPHA:99826 |
| Occipital Horn Syndrome |
|
Hypothermia, Dysphagia |
ORPHA:198 |
| Menkes Disease |
|
Hypothermia |
ORPHA:565 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving, Intention tremor |
OMIM:612780 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Dysphagia |
OMIM:603041 |
| Gitelman Syndrome |
|
Polydipsia, Recurrent fever, Salt craving |
OMIM:263800 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia |
ORPHA:226307 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Erdheim-Chester Disease |
|
Polydipsia, Fever |
ORPHA:35687 |
| Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
| Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia |
OMIM:617994 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Sarcoidosis |
|
Fever, Hypothermia |
ORPHA:797 |
| Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
| Wolfram Syndrome |
|
Polydipsia |
ORPHA:3463 |
| Parathyroid Carcinoma |
|
Polydipsia, Dysphagia |
ORPHA:143 |
| Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
| Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
| Gitelman Syndrome |
|
Polydipsia, Salt craving |
ORPHA:358 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Fever |
OMIM:241200 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia |
OMIM:219800 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
| Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
