Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Progressive visual loss, Rod-cone dystrophy, Blindness, Seizure, Optic atrophy, Parkinsonism, Ret... |
OMIM:204200 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Cln3 Disease |
|
Myoclonic seizure, Progressive visual loss, Amblyopia, Blindness, Seizure, Optic atrophy, Shuffli... |
ORPHA:228346 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse ce... |
OMIM:607136 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Progressive visual loss, Spasticity, Blindness, Seizure, Optic atrophy, Retinal degeneration, Mac... |
OMIM:256730 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Spasticity, Global brain atrophy, Seizure, Shuffling gait, Parkinson... |
OMIM:221820 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Gait ataxia, Progressive visual loss, Blindness, Seizure, Optic atrophy, Truncal ataxia, Hemipare... |
OMIM:601338 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Sandhoff Disease |
|
Blindness, Seizure, Ataxia, Failure to thrive, Hepatomegaly, Splenomegaly, Cherry red spot of the... |
ORPHA:796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... |
OMIM:300423 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Seizure, Cerebellar vermis atrophy, Agitation,... |
OMIM:617435 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Blindness, Optic atrophy, Generalized myoclonic seizure, Ataxia, Visual loss, Cerebr... |
OMIM:610951 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, My... |
ORPHA:248111 |
Huntington Disease |
|
Poor fine motor coordination, Inability to walk, Choking episodes, Babinski sign, Difficulty walk... |
ORPHA:399 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Tongue atrophy, Peripheral axonal degeneration, Decreased mot... |
OMIM:601596 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Paresthesia, Shuffling gait, Optic atrophy, Parkinsonism with favora... |
ORPHA:254886 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos... |
OMIM:619862 |
Dravet Syndrome |
|
Poor fine motor coordination, Global brain atrophy, Generalized clonic seizure, Epilepsia partial... |
ORPHA:33069 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... |
ORPHA:36387 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Torticollis, Dysphagia, Cerebellar atrophy, B... |
ORPHA:71517 |
Leber Optic Atrophy And Dystonia |
|
Spasticity, Optic atrophy, Leber optic atrophy, Upper motor neuron dysfunction, Visual loss, Dysp... |
OMIM:500001 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Retinopathy, Blindness, Abnormal pyramidal sign, Optic atrophy, Tongue atroph... |
ORPHA:216873 |
Central Areolar Choroidal Dystrophy |
|
Slow decrease in visual acuity, Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Re... |
ORPHA:75377 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Rod-cone dystrophy, Blindness, Seizure, Retinal pigment epithelial mottling, Ataxia,... |
OMIM:551500 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Cerebral cortical atrophy, Dysphagia, Unsteady gait, Spasticity, Bl... |
ORPHA:79263 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Spasticity, Blindness, Seizure, Optic atrophy, Inability to walk, Babins... |
ORPHA:314911 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Spasticity, Blindness, Seizure, Optic atrophy, Severely reduced visual acuity |
OMIM:309555 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Huntington Disease |
|
Gait ataxia, Chorea, Seizure, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebel... |
OMIM:143100 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Hypoesthesia, Ataxia, Dysmetria, Sl... |
OMIM:618317 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Torticollis, Dysphagia, Unsteady gait, Br... |
ORPHA:210571 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Abnormality of peripheral nerve conduction, Decreased amplitude of ... |
ORPHA:90103 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Blindness, Retinal thinning, Severe... |
ORPHA:41751 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Seizure, Weight los... |
ORPHA:157941 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Cachexia, Gastrointestinal dysmotility, Intestinal pseudo-obstruction... |
OMIM:613662 |
Ravine Syndrome |
|
Failure to thrive, Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal ... |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Gastroesophageal reflux, Spasticity, High palate, Seizure, Inability to walk, Clumsiness, Myoclon... |
OMIM:617854 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Seizure, Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ata... |
OMIM:261640 |
Autosomal Dominant Striatal Neurodegeneration |
|
Dysdiadochokinesis, Rigidity, Gait disturbance, Dysphagia, Bradykinesia |
ORPHA:228169 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Cerebral cortical atrophy, Falls, Spastic tetraplegia, Rest... |
OMIM:617225 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Rod-cone dystrophy, Fasciculations, Dysdiadochokinesis, Postural tremor, Parkinsonism... |
OMIM:183090 |
Inherited Creutzfeldt-Jakob Disease |
|
Global brain atrophy, Abnormal autonomic nervous system physiology, Babinski sign, Neuronal loss ... |
ORPHA:282166 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Babinski sign, Dysphagia, Bradykinesia, Gait ataxia, Dysmetria, Limb f... |
OMIM:615157 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait distur... |
OMIM:213600 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Spinocerebellar Ataxia 10 |
|
Gait ataxia, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Abnormality of extrapyramidal ... |
OMIM:603516 |
Behr Syndrome |
|
Progressive visual loss, Cerebellar vermis atrophy, Blindness, Hypoplastic optic chiasm, Optic at... |
OMIM:210000 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Lymphad... |
ORPHA:70482 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Diencephalic Syndrome |
|
Hyperhidrosis, Macrotia, Decreased body weight, Optic atrophy, Cachexia |
ORPHA:1672 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... |
ORPHA:98755 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Narp Syndrome |
|
Rod-cone dystrophy, Blindness, Seizure, Cerebral cortical atrophy, Myoclonic spasms, Progressive ... |
ORPHA:644 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Seizure, Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spa... |
ORPHA:329284 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Hyporeflective spaces on macular... |
ORPHA:506353 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Falls, Shuffling gait, Resting tremor, R... |
ORPHA:306692 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Seizure, Falls, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreo... |
ORPHA:13 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myocloni... |
OMIM:617836 |
Immunodeficiency 18 |
|
Lymphopenia, Recurrent gastroenteritis, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Progressive hearing impairment, Abnormal autonomic nervous system phys... |
ORPHA:97229 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Spasticity, Blindness, Seizure |
ORPHA:85336 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Progressive visual loss, Cerebral cortical atrophy, Seizure, Dysdiadochokinesis, Retinal degenera... |
OMIM:256731 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Seizure, Limb hypertonia, Shuffling gait, Parkinsonism, Rigi... |
OMIM:615528 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Ankle clonus, Tip-toe gait, Spastic gait, Rigidity, Gait disturbance, Babinski sign, Hyperesthesi... |
ORPHA:100984 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, High palate, Seizure, Spastic tetraplegia, Spastic gait, Resting tremor, Shufflin... |
OMIM:300055 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Cerebral atrophy, Bra... |
OMIM:600116 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Visual field defect... |
OMIM:616544 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dysphagia, Unsteady gait, Bradykinesia |
OMIM:128235 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... |
ORPHA:98856 |
Late-Infantile/Juvenile Krabbe Disease |
|
Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Neuromuscula... |
ORPHA:206443 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Seizure, Parkinsonism, Rigidity, Limb ataxia, Babinski sign, Hypertonia, Bradykinesia |
OMIM:618824 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Rigidity, Gait disturbance, Slurred speech, Degeneration of the striatum, Bra... |
OMIM:609161 |
Kufor-Rakeb Syndrome |
|
Spasticity, Seizure, Akinesia, Parkinsonism, Rigidity, Myoclonus, Torticollis, Paraparesis, Parki... |
OMIM:606693 |
Machado-Joseph Disease |
|
Spasticity, Diplopia, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor... |
OMIM:109150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... |
OMIM:614436 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Seizure, Inability to walk, Akinesia, Resting tremor, Shuff... |
ORPHA:391411 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Impaired distal vibration sensation, Seizure, Optic atrophy, Titubation, Myoclonus, ... |
ORPHA:98768 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Sensorineural heari... |
OMIM:302800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Diplopia, Optic... |
OMIM:258450 |
Retinitis Pigmentosa 59 |
|
Spasticity, Rod-cone dystrophy, Seizure, Failure to thrive, Cystoid macular edema, Constriction o... |
OMIM:613861 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Blindness, Seizure, Cerebral atrophy, Cerebellar atrophy |
OMIM:617899 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Blindness, Macular edema, Reduced visual acuity, Macular degeneration, Macula... |
OMIM:600138 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Anemia, Sensorineural hearing impairment, Weight loss, Small intestinal ... |
ORPHA:298 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Rod-cone dystrophy, Blindness, Seizure, Weight loss, Inability to walk, Tip-toe gait,... |
ORPHA:216866 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
ORPHA:101150 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Blindness, Seizure, Parkinsonism, Myoclonic spasms, Retinal degener... |
ORPHA:79264 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Choroideremia |
|
Progressive visual loss, Choroideremia, Granular macular appearance, Retinal pigment epithelial m... |
OMIM:303100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Abnormal pyramidal sign, Spastic gait, Optic atrophy, Spastic tetraparesis, Bradykinesia |
OMIM:619052 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Cerebral cortical atrophy, Megaloblastic anemia, Seizure, Blindness, Normocytic anemia, Gait dist... |
OMIM:236270 |
Macular Dystrophy, Patterned, 1 |
|
Reduced visual acuity, Choroidal neovascularization, Pattern dystrophy of the retina, Reticular r... |
OMIM:169150 |
Cach Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Blindness, Seizure, Optic atrophy, Spastic diplegia, Trunc... |
ORPHA:135 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Sensorineural hearing impairment |
ORPHA:1144 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Rigidity, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Seizure, Blindness, Poor coordination, Gait disturbance, Failure to thrive,... |
OMIM:250940 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Blindness, Abnormal macular morphology, Small... |
ORPHA:90050 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Low-set ears, Axonal degeneration, Cl... |
OMIM:162100 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Blindness, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the reti... |
OMIM:180210 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Blindness, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, P... |
ORPHA:726 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Blindness, Retinal atrophy, Visual field defect, Bone spicule pigmentation of... |
OMIM:613731 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Blindness, Macular edema, Macular atrophy, Peripapillary chorioretinal atroph... |
OMIM:613750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Bradykinesia, Babinski sign |
OMIM:619063 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Hyperhidrosis, Degeneration of anterior horn cells, Peripheral axonal degeneration, Small for ges... |
OMIM:604320 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Seizure, Akinesia, Postural tremor, Resting tremor, Clumsiness, Parkinsonism... |
OMIM:619911 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Upper limb spasticity, Limb ataxia, Gait disturbance, Babinski sign, Spastic paraplegia, Lower li... |
OMIM:618418 |
Krabbe Disease |
|
Blindness, Seizure, Optic atrophy, Progressive spasticity, Diffuse cerebral atrophy, Autoimmune t... |
OMIM:245200 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Tracheoesophageal fistula, Abnormal lower motor neuron morphology, Abnormality of the s... |
ORPHA:93941 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance, Blindness, Dysphagia |
OMIM:607674 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations |
OMIM:183050 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Central scotoma, Dyschromatopsia... |
OMIM:608051 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Reduced visual acuity, Abnormality of extrapyramidal motor function, Scotoma, Trem... |
OMIM:165300 |
Christianson Syndrome |
|
Gastroesophageal reflux, Macrotia, Cerebral cortical atrophy, Cachexia, Neuronal loss in central ... |
ORPHA:85278 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Hyperactivity, Spasticity, Seizure, Optic atrophy, Dysdiadochokinesis, Babin... |
OMIM:610217 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Decreased motor nerve conduction velocity, Decreased amplitude of senso... |
OMIM:619279 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Shuffling gait, Optic atrophy, Parkinsonism, Rigidity, Gait disturbance, Hand tremor,... |
ORPHA:289560 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... |
ORPHA:454887 |
Migraine, Familial Hemiplegic, 3 |
|
Blindness, Seizure, Hemiparesis, Hemiplegia, Photophobia |
OMIM:609634 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Hemat... |
OMIM:243150 |
Moynahan Syndrome |
|
Cachexia, Sensorineural hearing impairment |
ORPHA:2574 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Inability to walk, Focal-onset seizure, Atonic seizure, Spasticity, Blindness,... |
ORPHA:168491 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Rod-cone dystrophy, Retinal thinning, Intrahepatic bile duct dilatation, Hepato... |
OMIM:618955 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Seizure, Resting tremor, Parkinsonism, Focal-onset seizure, Titubation, Atyp... |
ORPHA:225147 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease... |
ORPHA:79301 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, High palate, Cachexia, Facial diplegia, Cerebellar atrophy, Low-set ears... |
OMIM:618186 |
Multiple System Atrophy, Cerebellar Type |
|
Neuromuscular dysphagia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Abnor... |
ORPHA:227510 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Retinitis Pigmentosa 29 |
|
Rod-cone dystrophy, Blindness, Attenuation of retinal blood vessels |
OMIM:612165 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Neurodegenera... |
OMIM:615643 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Cerebral visual impairment, Ankle clonus, Optic atrophy, Inability to walk, Retinal vascular tort... |
OMIM:618768 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Spasticity, Optic atrophy, Focal-onset seizure, Babinski sign, Cerebral atrophy, Reduced visual a... |
OMIM:618770 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... |
OMIM:601382 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Impaired oropharyngeal swallow response, M... |
ORPHA:53351 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Huntington Disease-Like 2 |
|
Chorea, Cerebral cortical atrophy, Weight loss, Rigidity, Action tremor, Bradykinesia |
OMIM:606438 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy, Blindness |
OMIM:268010 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Babinski sign... |
OMIM:606159 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced visual acuity, Blindness, Macular dystrophy |
OMIM:601553 |
Childhood-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Poor fine motor coordination, High palate, Clumsiness, Facial diplegia, ... |
ORPHA:171439 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Central scotoma, Peripheral retinal atrophy, Reduced visual acuity, Drusen, Macular dystrophy, Ab... |
OMIM:136550 |
Alexander Disease Type I |
|
Cerebellar atrophy, Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Primary gonadal insufficiency, Spasticity, Decreased circulating progesterone, Blindness, Seizure... |
OMIM:603896 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired vibration sensation in the lower limbs, Rod-cone dystrophy, Achalasia, Blindness, Optic ... |
OMIM:609033 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Microcytic anemia |
OMIM:618811 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Attentio... |
OMIM:619725 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Attention defi... |
OMIM:619827 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Scotoma, Visua... |
OMIM:605670 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Cachexia, Dysphagia |
OMIM:618093 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Abnormal pyramidal sign, Falls, Akinesia, Gait imbalance,... |
ORPHA:240071 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Gait disturbance, Tremor, Orthostatic hypotension, Bradykinesia |
OMIM:616710 |
Cone-Rod Dystrophy 16 |
|
Progressive visual loss, Rod-cone dystrophy, Cone/cone-rod dystrophy, Reduced visual acuity, Macu... |
OMIM:614500 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Brain atrophy, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Cerebral cortical hemiatrop... |
ORPHA:306669 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Blindness, Seizure, Optic atrophy, Spastic diplegia, Frontotemporal cerebral ... |
ORPHA:391428 |
Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Gait ataxia, Impaired distal vibration sensation, Hypothyroidism, D... |
OMIM:300623 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness, Macular atrophy, Bone spicule pigmentation of the retina, Att... |
OMIM:617781 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Myoclonic seizure, Optic disc pallor, Reduced visual acuity, Central scotoma, Ataxia, Color visio... |
OMIM:616732 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s... |
OMIM:604168 |
Infantile Dystonia-Parkinsonism |
|
Chorea, Gastroesophageal reflux, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Cerebral... |
ORPHA:238455 |
Leber Congenital Amaurosis 4 |
|
Blindness, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Attenuation of retina... |
OMIM:604393 |
Leber Congenital Amaurosis 2 |
|
Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Photophobia, Fundus atrop... |
OMIM:204100 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Seizure, Limb hypertonia, Cerebral palsy, Small for gestational age, Rigidity, Tremor, Bradykinesia |
ORPHA:70594 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Seizure, Resting tremor, Diffuse cerebral atrophy, Babinski sign, Spast... |
ORPHA:363654 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Lethargy, Bradykinesia, Ataxia |
OMIM:618683 |
Persistent Placoid Maculopathy |
|
Amblyopia, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascula... |
ORPHA:97341 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis... |
ORPHA:2930 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Seizure, Optic atrophy, Blindness, Abnormal autonomic n... |
OMIM:598500 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apr... |
ORPHA:240094 |
Retinal Capillary Malformation |
|
Progressive visual loss, Vitreous hemorrhage, Amblyopia, Blindness, Retinal exudate, Central fund... |
ORPHA:71213 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Choreoathetosis, Bull's eye maculopathy, Peripheral visual field loss, Nyctalopia,... |
ORPHA:157850 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Seizure, Inability to walk, Parkinsonism, Truncal ataxia,... |
OMIM:618877 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Myoclonic seizure, Spasticity, Blindness, Seizure, Brain atrophy, Myoclonus, Ataxia, Lethargy |
OMIM:618225 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Involuntary movements, Gait ... |
OMIM:612067 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Hepato... |
OMIM:204000 |
Canavan Disease |
|
Gastroesophageal reflux, Blindness, Seizure, Optic atrophy, Abnormality of retinal pigmentation, ... |
ORPHA:141 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Spasticity, Blindness, Seizure, Weight loss, Generalized myoclonic seizur... |
ORPHA:3208 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Poor fine motor coordination, High palate, Difficulty walking, Bradykinesia |
ORPHA:171442 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Reduced visual acuity, Visual field defect, Bone spicule pigmentation of the ... |
OMIM:614181 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Seizure, Inability to walk, Dys... |
OMIM:208900 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Global brain atrophy, Precocious puberty, Optic atrophy, Inability ... |
ORPHA:845 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Poor fine motor coordination, Abnormality of the liver, Dysdiadochokinesis, Truncal ataxia, Rigid... |
ORPHA:309854 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Seizure, Myoclonus, Ataxia, Failure to thrive, Hepatomegaly, Cerebral atrophy, Reduce... |
OMIM:612015 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Reduced visual acuity, Ultra-low vision, Retinal dots, Retinal pigment epithelial ... |
OMIM:608553 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Tongue atrophy |
OMIM:616155 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Attention deficit hyperactivity disorder, Lower limb spasticity |
OMIM:618878 |
Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Cerebral cortical atrophy, Diplopia, Shuffl... |
ORPHA:411602 |
Nephronophthisis 15 |
|
Retinal degeneration, Obesity, Blindness, Seizure |
OMIM:614845 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Renpenning Syndrome |
|
Macrotia, Sensorineural hearing impairment, Round ear, Decreased testicular size, Cachexia, Anal ... |
ORPHA:3242 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Limb hypertonia, Parkinsonism, Attention deficit hyperactivity disorder, Hypertonia, Broad-based ... |
OMIM:617384 |
Alg6-Cdg |
|
Rod-cone dystrophy, Abnormality of the liver, Seizure, Increased circulating androgen concentrati... |
ORPHA:79320 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Retinitis Pigmentosa 32 |
|
Reduced visual acuity, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:609913 |
Flynn-Aird Syndrome |
|
Cachexia, Cerebral cortical atrophy, Progressive sensorineural hearing impairment, EEG abnormality |
ORPHA:2047 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Weight loss, Multipl... |
ORPHA:2494 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Blindness, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hypera... |
OMIM:617406 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Spasticity, Retinal dystrophy, Truncal obesity, Reduced visual a... |
OMIM:610156 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Optic atrophy, Postural t... |
ORPHA:99947 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Seizure, Akinesia, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic ... |
OMIM:300894 |
Leber Congenital Amaurosis 14 |
|
Congenital blindness, Rod-cone dystrophy, Falls, Optic disc pallor, Retinal dystrophy, Photophobi... |
OMIM:613341 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Gastroesophageal reflux, Sensorineural hearing impairment, High palate, EEG abnormality, Absent b... |
OMIM:617519 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Shuffling gait, Falls, Parkinsonism, Frontotemporal cerebral atrophy, Short... |
ORPHA:412066 |
Parkinson Disease 1, Autosomal Dominant |
|
Global brain atrophy, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait dis... |
OMIM:168601 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Monochromacy, Abnormal macular morphology, Retinal pigment ep... |
ORPHA:49382 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Blepharospasm, Optic atrophy, Akinesia, Choreoathetosis, Babinski sign, Dys... |
OMIM:234200 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
3-Methylglutaconic Aciduria, Type Iii |
|
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Babinski... |
OMIM:258501 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Photophobia, Color vision defect, Vitelliform-like... |
OMIM:608161 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Spasticity, Blindness, Cerebellar vermis atrophy, Generalized myocloni... |
ORPHA:77299 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Blindness, Optic atrophy, Abnormal testis morphology, Hypogonadism, Type II dia... |
ORPHA:791 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Gm1 Gangliosidosis |
|
Optic atrophy, Hepatosplenomegaly, Dysphagia, Unsteady gait, Splenomegaly, Abnormal retinal vascu... |
ORPHA:354 |
Immunodeficiency 8 With Lymphoproliferation |
|
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Lymphopenia |
OMIM:615401 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Hepatic fibrosis, Spasticity, Paresthesia, Cerebellar v... |
ORPHA:466794 |
Congenital Stationary Night Blindness |
|
Retinal thinning, Congenital stationary night blindness with normal fundus, Abnormality of retina... |
ORPHA:215 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Apraxia,... |
OMIM:137440 |
Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal pyramidal sign, Seizure, Akinesia, Resting tremor, Paresthesi... |
ORPHA:97349 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... |
OMIM:601718 |
Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Progressive visual loss, Optic atrophy, Reduced visual acuity, Dysdiadochokinesis, C... |
ORPHA:98890 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Spinocerebellar Ataxia Type 8 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... |
ORPHA:98760 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Facial diplegia, Frequent falls, Hypertonia, Dysphagia, Lethargy, Bradykinesia, F... |
ORPHA:254892 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, High hypermetropia, Optic disc drusen, Foveoschisis, Reduced ... |
OMIM:611040 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Spastic paraplegia |
OMIM:302700 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Parkinsonism, Rigidity, Abnormal autonomic n... |
ORPHA:171695 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Global brain atrophy, Inability to walk, Oculomotor apraxia, Decreased circulating cortisol level... |
ORPHA:139396 |
Leukodystrophy, Hypomyelinating, 15 |
|
Progressive visual loss, Amblyopia, Spasticity, Seizure, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:617951 |
Infantile Refsum Disease |
|
Spasticity, Rod-cone dystrophy, Seizure, Optic atrophy, Ataxia, Failure to thrive, Constriction o... |
ORPHA:772 |
Cohen Syndrome |
|
Leukopenia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulation tes... |
OMIM:216550 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Progressive spastic paraplegia, Seizure, Bilateral cryptorchidism, Myocl... |
ORPHA:466722 |
Multiple System Atrophy |
|
Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Abnormal pyramidal sign, Postu... |
ORPHA:102 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Spasticity, Blindness, Seizure, Optic atrophy, Abnormal pyramidal sign, Progressiv... |
ORPHA:35069 |
Abetalipoproteinemia |
|
Hypothyroidism, Progressive visual loss, Fat malabsorption, Upper motor neuron dysfunction, Retic... |
ORPHA:14 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Optic atrophy, Reduced visual acuity, Rigidity, Clumsiness, My... |
OMIM:617282 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Gastroesophageal reflux, Abnormal pyramidal sign, Parkinsonism, Rigidity, Tremor, Cogwhee... |
OMIM:613135 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration, Macular degeneration, Attenuatio... |
OMIM:615922 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... |
OMIM:613280 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Rod-cone dystrophy, Seizure, Abnorm... |
ORPHA:88628 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Central scotoma, Color vision defect, Reduced visual acuity, Bull's eye ... |
OMIM:612657 |
Mcdonough Syndrome |
|
Macrotia, Cachexia, Cryptorchidism, Low-set, posteriorly rotated ears, Protruding ear |
ORPHA:2471 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Basal ganglia gliosis, Blindness, Seizure, Inability to walk, Small for ... |
ORPHA:79243 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Global brain atrophy, Cachexia, Cerebral atrophy, Low-set ears, Failure to thrive in infancy, Pos... |
OMIM:616801 |
Spinocerebellar Ataxia Type 7 |
|
Hemeralopia, Somatic sensory dysfunction, Blindness, Cone/cone-rod dystrophy, Reduced visual acui... |
ORPHA:94147 |
Sandhoff Disease |
|
Myoclonic seizure, Spasticity, Exaggerated startle response, Blindness, Macroglossia, Upper motor... |
OMIM:268800 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Scotoma, Bone spicule pigmentation of the retina, Attenuat... |
OMIM:180100 |
Retinitis Pigmentosa 35 |
|
Rod-cone dystrophy, Blindness, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:610282 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste... |
ORPHA:683 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Retinal atrophy, Visual field defect, Bone spicule pigmentation of the retina... |
OMIM:615725 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Axonal degeneration, Peripheral axonal neuropathy |
OMIM:620011 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Tritanomaly, Retinal dystrophy, Visual impairment, Peripheral retinal a... |
OMIM:615147 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Myopia, High myopia, Central scotoma, Pericentral scotoma, Constriction of pe... |
OMIM:312600 |
Gyrate Atrophy Of Choroid And Retina |
|
Progressive visual loss, Blindness, Seizure, Abnormal macular morphology, Chorioretinal hyperpigm... |
ORPHA:414 |
Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Optic atrophy, Cachexia, Failure to thrive in infancy, Hearing impairment |
ORPHA:702 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Retinitis Pigmentosa 78 |
|
Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic disc pallor, ... |
OMIM:617433 |
Sarcosinemia |
|
Congenital blindness, Optic atrophy, Ataxia, Bilateral tonic-clonic seizure, Tetraparesis |
ORPHA:3129 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Blindness, Seizure, Hypogonadism, Truncal ataxia, Parapar... |
OMIM:300100 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment |
ORPHA:1933 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morphology, Spleno... |
ORPHA:100025 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Progressive visual loss, Rod-cone dystrophy, Attenuation of r... |
OMIM:613660 |
Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Abnormal pyramidal sign, Postu... |
ORPHA:98933 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613428 |
Rett Syndrome |
|
Increased serum leptin, Seizure, Inability to walk, Limb apraxia, Abnormal autonomic nervous syst... |
ORPHA:778 |
Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Blindness, Cone/cone-rod dystrophy, Bone spicule pigmentation... |
OMIM:120970 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Progressive night blindness, Truncal obesity, ... |
ORPHA:75858 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Bone spicule pigmentation of the retin... |
OMIM:617871 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Aganglionic megacolon, Cachexia, Large earlobe, Low-set ears |
ORPHA:1438 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Gait d... |
ORPHA:2585 |
Wolman Disease |
|
Anemia, Cachexia, Steatorrhea, Bone-marrow foam cells, Esophageal varix, Splenomegaly |
ORPHA:75233 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Retinitis Pigmentosa 20 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely reduced vis... |
OMIM:613794 |
Retinitis Pigmentosa 47 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Visual impairment, Pigmentary retinopathy, Nyctalopia |
OMIM:613758 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Visual impairment, Nyctalopia |
OMIM:607476 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Impaired distal vibration sensation, Diplopia, Resting tremor, Parkinsonism, Rigidit... |
OMIM:157640 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Rod-cone dystrophy, Decreased body weight, Optic atrophy, Spastic gait, Visua... |
ORPHA:96180 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Hypoplasia of the thymus, Seizure, Jaundice, Intrahepatic biliary dysgenes... |
OMIM:214110 |
Choroideremia |
|
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Myopia, Nyctalop... |
ORPHA:180 |
Retinitis Pigmentosa 7 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Constriction of peripheral visual field... |
OMIM:608133 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Retinitis Pigmentosa 38 |
|
Progressive visual loss, Rod-cone dystrophy, Macular atrophy, Constriction of peripheral visual f... |
OMIM:613862 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Abnormal autonomic nervous system physiology, Diffuse cerebellar atrophy, G... |
ORPHA:478029 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Clumsiness, Gait disturb... |
OMIM:617013 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Reduced visual acuity, Retinal dystrophy, Central scotoma, Photophobia, Nyctal... |
OMIM:616079 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Progressive visual loss, Impaired vibration sensation at ankles, Optic atrophy, Spastic paraplegi... |
OMIM:615491 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Blindness, Seizure, Optic atrophy, Pancytopenia, Failure to thrive, Hepatomegaly, Visual ... |
OMIM:259700 |
Optic Atrophy 1 |
|
Tritanomaly, Red-green dyschromatopsia, Optic atrophy, Centrocecal scotoma, Central scotoma, Atax... |
OMIM:165500 |
Primary Progressive Freezing Gait |
|
Cerebral cortical atrophy, Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Babinski si... |
ORPHA:75567 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Ataxia-Telangiectasia |
|
Spasticity, Seizure, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II diabet... |
ORPHA:100 |
Optic Pathway Glioma |
|
Precocious puberty, Blindness, Seizure, Optic atrophy, Reduced visual acuity, Visual field defect... |
ORPHA:2086 |
Retinitis Pigmentosa 79 |
|
Reduced visual acuity, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617460 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Cataract 11, Multiple Types |
|
Chorea, Blindness, Hypertonia |
OMIM:610623 |
Temporal Arteritis |
|
Retinal arteritis, Blindness |
OMIM:187360 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Weight loss, Ileus, Neoplasm of the pancreas, Cachexia, Lymphadenopathy, Mediastinal lymp... |
ORPHA:83469 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal flecks, ... |
OMIM:613194 |
Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Palatal tremor, Involuntary movements, Babin... |
ORPHA:157846 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Hemiparesis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:444463 |
Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614180 |
Retinitis Pigmentosa 18 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Progressive visual field defects, N... |
OMIM:601414 |
Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pho... |
OMIM:300029 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Splenomegaly |
OMIM:619164 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Substantia ... |
OMIM:168600 |
Waisman Syndrome |
|
Seizure, Resting tremor, Shuffling gait, Parkinsonism, Rigidity, Parkinsonism with favorable resp... |
OMIM:311510 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Scotoma, Macular atrophy, Photophobia, Myopia, Reduced visual acuity, Ny... |
OMIM:610356 |
Huntington Disease-Like 2 |
|
Weight loss, Cerebral cortical atrophy, Caudate atrophy |
ORPHA:98934 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Malabsorption, Abnormality of neutrophils, Failure to thrive, He... |
ORPHA:33355 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Seizure, Babinski sign, Spastic tetraparesis, Failure to thrive, Cholestasis, Hepatomegaly, Visua... |
OMIM:614924 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Photophobia, Reduced visual acuity, Nyctalopia |
OMIM:616502 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Seizure, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Vis... |
ORPHA:5 |
Infantile Krabbe Disease |
|
Gastroesophageal reflux, Optic atrophy, Cachexia, Diffuse cerebral atrophy, Failure to thrive, De... |
ORPHA:206436 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Congenital shortened small intestine, Seizure, Spastic diplegia, Pylori... |
OMIM:300048 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... |
ORPHA:2198 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Retinal atrophy, Retinal degeneration, Bone spicule pigmenta... |
OMIM:618144 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Abnormalit... |
ORPHA:96 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Reduced visual acuity, Macular degeneration, Bone spicule pigmentation of the... |
OMIM:613464 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Severe B... |
OMIM:603554 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Sensorineural hearing impairment, Duodenal ulcer, Malabsorption, Cachexia, Steatorrhea |
ORPHA:3217 |
Fleck Retina Of Kandori |
|
Retinal flecks, Blindness, Nyctalopia |
OMIM:228990 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Blindness, Optic atrophy, Moderate myopia, Attenuation of retinal blood vesse... |
OMIM:300578 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Hypohidrosis, Cachexia, Anal atresia |
ORPHA:884 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Spasticity, Tetraplegia, Blindness, Seizure, Cerebral cortical atrophy, ... |
ORPHA:3137 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Blindness, Seizure, Optic atrophy, Cranial nerve compression, Pancytopenia, Hepatosplenom... |
OMIM:259710 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, Retinal degeneration, Cryptorchidism, Obesity, Nyctalopia |
OMIM:615982 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Falls, Tremor by anatomical site, Parkinsonism, Rigidity,... |
ORPHA:99750 |
Chromosome Xq21 Deletion Syndrome |
|
Progressive visual loss, Choroideremia, Constriction of peripheral visual field, Chorioretinal at... |
OMIM:303110 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Granulovacuolar degeneration, Diplopia, Falls, Akinesia, Gait imbalance, Parkinsonis... |
OMIM:601104 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Neuroendocrine neoplasm, Chronic noninfectious l... |
ORPHA:100083 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Color vision defect, Photophobia, Ny... |
OMIM:600852 |
Macular Dystrophy, Retinal, 4 |
|
Reduced visual acuity, Choroidal neovascularization, Reduced OCT-measured foveal thickness, Nycta... |
OMIM:619977 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Weight loss, Dysphagia |
ORPHA:930 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Constriction of peripheral visual field, Red... |
OMIM:615780 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Seizure, Frontotemporal cerebral atrophy, Rigidity, Eyelid apraxia, Myoclonus, Clumsi... |
ORPHA:199351 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Canavan Disease |
|
Abnormal pyramidal sign, Blindness, Brain atrophy, Optic atrophy, Bilateral tonic-clonic seizure,... |
OMIM:271900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Xerostomia, Hamartomatous... |
OMIM:175500 |
Retinitis Pigmentosa 63 |
|
Blurred vision, Rod-cone dystrophy, Nyctalopia, Optic disc pallor |
OMIM:614494 |
Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Hemianopia, Subcortical cerebral atrophy, Scotoma, Ataxia, Visual loss... |
ORPHA:231169 |
Leber Congenital Amaurosis 16 |
|
Reduced visual acuity, Visual field defect, Photophobia, Visual impairment, Optic disc pallor, Ny... |
OMIM:614186 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Nyctalopia |
ORPHA:1872 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cons... |
OMIM:180104 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Weight loss, Functional abnormality of the gastrointestinal tra... |
ORPHA:388 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Granulovacuolar degeneration, Diplopia, Falls, Akinesia, Postural tremor, Gait imbal... |
OMIM:609454 |
Usher Syndrome, Type Iiia |
|
Visual field defect, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity |
OMIM:276902 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Tritanomaly, Spasticity, Red-green dyschromatopsia, Optic atrophy, Abnormal auditory evoked poten... |
OMIM:125250 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Reduced ... |
OMIM:616680 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration, Central scoto... |
OMIM:600977 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Myoclonus, Type I diabetes mellitus, Ataxia, Failure to thrive, Hepatomegaly, Pigmenta... |
OMIM:560000 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Reduced visual acuity, Retinal dots, R... |
OMIM:616188 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Falciform retinal fold, Posterior vi... |
OMIM:133780 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... |
OMIM:208920 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Weight loss, Failure to thrive, Low-set ears |
OMIM:620045 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Hypothyroidism, Cerebral cortical atrophy, Parkinsonism, Rigidity, Abnormal autonomi... |
ORPHA:93256 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Leukopenia, Anemia, High palate, Hypoplasia of the thymus, Perianal abs... |
OMIM:612541 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Gastrointestinal telangiectasia, Anemia, Blindness, Seizure, Optic atrophy, Spasticity, Abnormal ... |
OMIM:612199 |
Achromatopsia 7 |
|
Macular atrophy, Central scotoma, Achromatopsia, Photophobia, Hypoplasia of the fovea, Reduced vi... |
OMIM:616517 |
Perry Syndrome |
|
Akinesia, Weight loss, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Disinhibitio... |
OMIM:168605 |
Primary Angiitis Of The Central Nervous System |
|
Diplopia, Seizure, Pseudopapilledema, Parkinsonism, Hemiparesis, Blurred vision, Paraparesis, Par... |
ORPHA:140989 |
Majeed Syndrome |
|
Weight loss, Malabsorption, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Leukocyto... |
ORPHA:77297 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Spasticity, Seizure, Retinal thinning, Macular crystals, Redu... |
OMIM:270200 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Macular atrophy, Constriction of peripheral visual field, Cystoid macular d... |
OMIM:267760 |
Pontocerebellar Hypoplasia Type 2 |
|
Gastroesophageal reflux, Cerebral visual impairment, Spasticity, Seizure, Impaired oropharyngeal ... |
ORPHA:2524 |
Caribbean Parkinsonism |
|
Cerebral cortical atrophy, Parkinsonism, Rigidity, Apraxia, Myoclonus, Progressive gait ataxia, A... |
ORPHA:97355 |
Cog8-Cdg |
|
Seizure, Myoclonus, Ataxia, Failure to thrive, Prolonged prothrombin time, Cerebellar atrophy, Pr... |
ORPHA:95428 |
Manganese Poisoning |
|
Akinesia, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Cogwhe... |
ORPHA:306682 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Blindness, Poste... |
OMIM:601813 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Abnormal fundus morphology, Attenuation of retinal blood vessels, Absent reti... |
ORPHA:436274 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Congenital blindness, Isosexual precocious puberty, Severely reduced... |
ORPHA:2788 |
Retinitis Pigmentosa 85 |
|
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity |
OMIM:618345 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613801 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... |
ORPHA:95427 |
Retinitis Pigmentosa 88 |
|
Reduced visual acuity, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618826 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Central scotoma, Photophobia, Color visio... |
OMIM:300476 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Abnormal pyramidal sign, Cerebral cortical atrophy, Gait disturbance, Ataxia, Babinski sign, Posi... |
OMIM:616479 |
Cinca Syndrome |
|
Anemia, Blindness, Pseudopapilledema, Abnormal granulocyte morphology, Abnormality of neutrophils... |
ORPHA:1451 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Rett Syndrome |
|
Cachexia, Gastroesophageal reflux, Cerebral cortical atrophy, EEG abnormality |
OMIM:312750 |
Cavitary Optic Disc Anomalies |
|
Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia |
OMIM:611543 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... |
ORPHA:52368 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Microglossia, Weight loss |
ORPHA:141152 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Constriction of peripheral visual fi... |
OMIM:606068 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Refsum Disease |
|
Progressive visual loss, Retinopathy, Abnormal pyramidal sign, Hemiplegia/hemiparesis, Abnormalit... |
ORPHA:773 |
Parkinson Disease 20, Early-Onset |
|
Cerebral cortical atrophy, Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Involuntary mo... |
OMIM:615530 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Blindness, Hemolytic anemia, Retinal dystrophy, Reticulocytosis, Ataxia, Decreased hemoglobin con... |
ORPHA:713 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613582 |
Retinitis Pigmentosa 92 |
|
Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Pigmentary retin... |
OMIM:619614 |
Episodic Ataxia Type 6 |
|
Diplopia, Seizure, Ataxia, Photophobia, Hemiplegia, Slurred speech, Cerebellar atrophy, Reduced v... |
ORPHA:209967 |
Methanol Poisoning |
|
Blindness, Seizure, Type II diabetes mellitus, Blurred vision, Type I diabetes mellitus, Visual i... |
ORPHA:31825 |
Jalili Syndrome |
|
High hypermetropia, Monochromacy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, M... |
OMIM:217080 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Gait ataxia, Spasticity, Blindness, Seizure, Optic atrophy, Diffuse cerebral atrophy, Central sco... |
ORPHA:543470 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss, EEG abnormality |
ORPHA:84142 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Uns... |
ORPHA:364055 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration, Nyctalopia |
OMIM:607475 |
Gm2-Gangliosidosis, Ab Variant |
|
Myoclonic seizure, Chorea, Exaggerated startle response, Abnormal pyramidal sign, Blindness, Seiz... |
OMIM:272750 |
Acitretin/Etretinate Embryopathy |
|
Abnormal retinal morphology, High palate, Hypoplasia of the thymus, Aplasia/Hypoplasia of the opt... |
ORPHA:40366 |
Young-Onset Parkinson Disease |
|
Spasticity, Diplopia, Gait imbalance, Rigidity, Abnormal autonomic nervous system physiology, Agi... |
ORPHA:2828 |
Mepan Syndrome |
|
Chorea, Spasticity, Optic atrophy, Myoclonus, Gait disturbance, Ataxia, Failure to thrive, Cerebr... |
ORPHA:508093 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea, Ileal ulcer, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia |
OMIM:616744 |
Non-Functioning Pituitary Adenoma |
|
Progressive visual loss, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating g... |
ORPHA:91349 |
Choreoacanthocytosis |
|
Blepharospasm, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Self-muti... |
ORPHA:2388 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Usher Syndrome Type 3 |
|
Hemianopia, Scotoma, Ataxia, Visual loss, High hypermetropia, Nyctalopia |
ORPHA:231183 |
Fleck Retina, Familial Benign |
|
Retinal flecks, Nyctalopia, Visual impairment |
OMIM:228980 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Spasticity, Blindness, Seizure, Optic atrophy, Brain atrophy, Small for gestational age, Myoclonu... |
ORPHA:3078 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal perforation, Sensorineural hearing impairment, Colonic diverticula, Weight loss, Malab... |
OMIM:603041 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Seizure, Aganglionic megacolon, Retinal dystrophy, Ataxia, Chorioretinal coloboma, Vis... |
ORPHA:2318 |
Retinitis Pigmentosa |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Congenital blindness, Hepatic steatosis, Insulin-resistant diabete... |
ORPHA:436182 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Eosin... |
ORPHA:2070 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity, Bone spicule pigmentation of the re... |
OMIM:600105 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hepatomegaly, Abnormal dense granules, Thrombocytopenia, Splenomegaly, Impaired ... |
OMIM:214500 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Hypothyroidism, Postural tremor, Pa... |
ORPHA:98808 |
Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus, Difficulty walking |
OMIM:612782 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Fundus Albipunctatus |
|
Retinal flecks, Fundus albipunctatus, Nyctalopia |
OMIM:136880 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Seizure, Optic atrophy, Reduced visual acuity, Lymphopenia, Ataxia, Inflammation of the large int... |
OMIM:619708 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Adenoiditis, Hepatomegaly, Dysphagia, Hypertonia, Vocal cord paresis, Splenomegaly... |
ORPHA:581 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos... |
ORPHA:824 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Axonal degeneration |
OMIM:616811 |
Macular Dystrophy With Central Cone Involvement |
|
Red-green dyschromatopsia, Reduced visual acuity, High myopia, Central scotoma, Perifoveal ring o... |
OMIM:616170 |
Parkinson Disease 14, Autosomal Recessive |
|
Global brain atrophy, Spasticity, Ankle clonus, Frontotemporal cerebral atrophy, Resting tremor, ... |
OMIM:612953 |
Usher Syndrome, Type Iid |
|
Rod-cone dystrophy, Nyctalopia |
OMIM:611383 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Retinal degeneration, Oculomotor apraxia, Cholestasis, Hepatomegaly, Obesity, S... |
OMIM:615630 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Myopia, Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Myoclonic seizure, Spasticity, Rod-cone dystrophy, Seizure, Retinal atrophy, Rigidity, Status epi... |
OMIM:610127 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Attenuation of retinal blood vessels, Abdominal obesity, Peripheral vi... |
OMIM:209900 |
Metachromatic Leukodystrophy |
|
Tip-toe gait, Seizure, Progressive spasticity, Abnormal duodenum morphology, Intussusception, Abn... |
ORPHA:512 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Slow decrease in visual acuity, ... |
ORPHA:329308 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Abetalipoproteinemia |
|
Retinopathy, Fat malabsorption, Retinal degeneration, Ataxia, Acanthocytosis |
OMIM:200100 |
Retinitis Pigmentosa 6 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal degeneration, Pigmenta... |
OMIM:312612 |
Noonan Syndrome 12 |
|
Amblyopia, Decreased response to growth hormone stimulation test, Lymphopenia, Anteriorly placed ... |
OMIM:618624 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Blindness, Retinal arteriolar occlusion, Dy... |
OMIM:193220 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation, Nyctalopia |
OMIM:179840 |
Silver-Russell Syndrome |
|
Hyperhidrosis, Gastroesophageal reflux, Decreased testicular size, Cachexia, Cryptorchidism, Low-... |
ORPHA:813 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Enterocolitis, Monocytopenia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Blindness, Foveoschisis, Chorioretinal atrophy, Visual impairment, Myopia, Ny... |
OMIM:258870 |
Mohr-Tranebjaerg Syndrome |
|
Cerebral visual impairment, Spasticity, Dysphagia, Reduced visual acuity, Tremor, Constriction of... |
OMIM:304700 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Hypertonia, Myopia, Nyctalopia, Abnormal retinal vascular mo... |
ORPHA:1390 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Nyctalopia, Spastic paraplegia |
OMIM:300076 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... |
ORPHA:397946 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Sea-blue histiocytosis, Optic atrophy, Spastic tetraplegia, Generalized... |
OMIM:230600 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Splenomegaly, Abnormal tragus morphology |
ORPHA:1133 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Retinal Cone Dystrophy 3A |
|
Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Photophobia, High myopia, Nyctalopia |
OMIM:610024 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Spasticity, Cerebral palsy, Lymphopenia, Autoimmune th... |
ORPHA:760 |
Kufor-Rakeb Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Cerebral cortical atrophy, Parkinsonism, Rigidity, Eyelid... |
ORPHA:306674 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Amyotrophic lateral sclerosis, Dysphagia |
ORPHA:300605 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Abnormal pyramidal sign, Blindness, Seizure, Optic atrophy, Myopia, Macroglossia, Optic nerve hyp... |
ORPHA:370959 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Severe failure to thrive, EEG abnormality |
ORPHA:371364 |
Juvenile Polyposis Of Infancy |
|
Anemia, High, narrow palate, Intussusception, Cachexia, Hematochezia, Intestinal bleeding, Gastro... |
ORPHA:79076 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus |
ORPHA:52503 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, High myopia, Reduced visual acuity, Congenital stationary night blindness, N... |
OMIM:615058 |
Late-Onset Retinal Degeneration |
|
Tritanomaly, Peripapillary atrophy, Red-green dyschromatopsia, Abnormal best corrected visual acu... |
ORPHA:67042 |
Retinitis Punctata Albescens |
|
Progressive visual loss, Peripheral visual field loss, Retinal atrophy, Retinal pigment epithelia... |
ORPHA:52427 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen, Nyctalopia |
OMIM:618632 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Refractory Celiac Disease |
|
Jejunitis, Weight loss, Villous atrophy, Malabsorption, Normocytic anemia, Abnormal spleen physio... |
ORPHA:398063 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment, Red... |
OMIM:605750 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Failure to thrive, Cryptorchidism, Hearing impairment |
ORPHA:217346 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Blindness, Optic atrophy, Visual impairment, Abnormal leukocyte morphology, Facial palsy |
ORPHA:53 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Microtia |
OMIM:612138 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Blindness, Cone/cone-rod dystrophy, Macular degeneration, Abnorm... |
OMIM:605549 |
Cone-Rod Dystrophy 20 |
|
Tritanomaly, Cone/cone-rod dystrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... |
OMIM:615973 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperhidrosis, High palate, EEG abnormality, Decreased testicular size, Cachexia, Abnormal earlob... |
ORPHA:85293 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:86893 |
Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Sea-blue histiocytosis, Spasticity, Seizure, Cataplexy, Ataxia, Neuronal loss in cen... |
OMIM:257220 |
Acute Zonal Occult Outer Retinopathy |
|
Blurred vision, Photopsia, Abnormal retinal vascular morphology, Rod-cone dystrophy, Hemianopia, ... |
ORPHA:284454 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Tetraplegia, Blindness, Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased ... |
ORPHA:1187 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Axonal degeneration, Peripheral axonal neuropathy |
OMIM:106100 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Blindness, Retinal degeneration, Oculomotor apraxia, Ataxia, Bile duct prolifer... |
OMIM:610688 |
Serrated Polyposis Syndrome |
|
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Neoplasm of the large inte... |
ORPHA:157798 |
White-Sutton Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Gastroesophageal reflux, Hyperacti... |
ORPHA:468678 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Type I diabete... |
ORPHA:436252 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Biliary tract abnormality, Cholestasis, Nyctalopia |
ORPHA:79168 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Parkinsonism with favorable res... |
OMIM:607060 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Sturge-Weber Syndrome |
|
Cerebral cortical atrophy, Blindness, Seizure, Optic atrophy, Abnormal choroid morphology, Hemian... |
ORPHA:3205 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:180105 |
Friedreich Ataxia |
|
Poor fine motor coordination, Gait ataxia, Spasticity, Chorea, Gait imbalance, Falls, Inability t... |
ORPHA:95 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Thrombocytopenia |
OMIM:301080 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Adrenomyeloneuropathy |
|
Abnormality of central somatosensory evoked potentials, Adrenocorticotropic hormone excess, Perip... |
ORPHA:139399 |
Behçet Disease |
|
Retinopathy, Blindness, Seizure, Weight loss, Abnormal pyramidal sign, Malabsorption, Paresthesia... |
ORPHA:117 |
Carney-Stratakis Syndrome |
|
Weight loss, Intestinal obstruction, Tinnitus, Paraganglioma, Dysphagia, Gastrointestinal stroma ... |
ORPHA:97286 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Anemia, Cerebral cortical atrophy, Blindness, Seizure, Optic atrophy, Vo... |
ORPHA:847 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Xq21 Microdeletion Syndrome |
|
Optic atrophy, Anterior hypopituitarism, Peripheral visual field loss, Gait ataxia, Ankle clonus,... |
ORPHA:1435 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Amblyopia, Blindness, Seizure, Diplopia, Bilateral vestibular schwan... |
ORPHA:637 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Bl... |
OMIM:193235 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Pgm3-Cdg |
|
T lymphocytopenia, Bone marrow hypocellularity, Eosinophilia, Decreased proportion of CD4-positiv... |
ORPHA:443811 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Malabsorption, Neutropenia in presence of anti-neutropil antibodies, Reduced proportion of CD4-ne... |
ORPHA:37042 |
Tay-Sachs Disease |
|
Exaggerated startle response, Blindness, Seizure, Hypertonia, Cherry red spot of the macula |
OMIM:272800 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:42642 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... |
OMIM:613983 |
Gm1 Gangliosidosis Type 1 |
|
Spasticity, Exaggerated startle response, Blindness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79255 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Sneddon Syndrome |
|
Seizure, Hemiplegia, Lymphopenia, Impaired distal tactile sensation, Tremor, Facial palsy |
OMIM:182410 |
Chylomicron Retention Disease |
|
Retinopathy, Fat malabsorption, Steatorrhea, Hepatic steatosis, Failure to thrive, Impaired propr... |
ORPHA:71 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Whipple Disease |
|
Anemia, Malabsorption, Cachexia, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Spleno... |
ORPHA:3452 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Epiretinal membrane,... |
OMIM:616959 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... |
OMIM:619260 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, High palate, Anemia, Generalized-onset seizure, Poly... |
OMIM:619418 |
Retinitis Pigmentosa 66 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Central scotoma, ... |
OMIM:615233 |
Madras Motor Neuron Disease |
|
Optic atrophy, Babinski sign, Limb fasciculations, Visual impairment, Dysphagia, Reduced visual a... |
ORPHA:137867 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Reduced visual acuity, Bone spicule pigmentation of th... |
OMIM:616469 |
Mirage Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Leukopenia, Esophageal stricture, Achalasia, D... |
OMIM:617053 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Spasticity, Retinopathy, Amblyopia, Seizure, Optic atrophy, Blindness, Rigidity, Retinal dystroph... |
ORPHA:2526 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... |
ORPHA:277 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Reduced visual acuity, Macular degeneration, Bone spicule pigmentation of ... |
OMIM:618195 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Cowden Syndrome 1 |
|
Hypothyroidism, Colonic diverticula, High palate, Seizure, Angioid streaks of the fundus, Hyperth... |
OMIM:158350 |
Hodgkin Lymphoma |
|
Hyperhidrosis, Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:98293 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, High palate, Seizure, Optic atrophy, Blindness, Cerebral atrophy, Cleft... |
OMIM:220500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Seizure, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Ty... |
OMIM:304790 |
X-Linked Immunoneurologic Disorder |
|
Hemiplegia/hemiparesis, Nyctalopia, Hypertonia |
ORPHA:2571 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss, Abnormal autonomic nervous system physiology, Neuronal loss in centra... |
OMIM:600072 |
Cancer-Associated Retinopathy |
|
Optic atrophy, Optic disc pallor, Retinal atrophy, Neoplasm of the pancreas, Diffuse cerebellar a... |
ORPHA:71505 |
De Sanctis-Cacchione Syndrome |
|
Global brain atrophy, Sensorineural hearing impairment, Optic atrophy, Bilateral cryptorchidism, ... |
OMIM:278800 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Motor axonal neuropa... |
ORPHA:1215 |
Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
Retinitis Pigmentosa 37 |
|
Tritanomaly, Rod-cone dystrophy, Red-green dyschromatopsia, Photophobia, Constriction of peripher... |
OMIM:611131 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Mild myopia, Nyctalopia |
OMIM:617024 |
Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Visual impairment, Obesity, Pigmentary retinopathy, Nyctalopia |
OMIM:600151 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction, Weight loss |
ORPHA:26790 |
Cone-Rod Dystrophy 6 |
|
Hemeralopia, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, A... |
OMIM:601777 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Blindness, Optic atrophy, Spastic d... |
ORPHA:95433 |
Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Inability to walk, Hepatosplenomegaly, Spastic paraplegia, Thrombocy... |
ORPHA:167 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Weight loss, Ulcerative colitis, Inflammation of the large intestine, Intestinal... |
OMIM:266600 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Poor fine motor coordination, Progressive visual loss, Rod-cone dystrophy, Progressive night blin... |
ORPHA:436245 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Small for gestational age, Failure to thrive, Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Visual field defec... |
OMIM:613581 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Infantile spasms, Blindness, Seizure |
OMIM:618731 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopenia, Decreased pro... |
OMIM:619510 |
Meningioma |
|
Enlarged pituitary gland, Focal-onset seizure, Abnormal kinetic perimetry test, Decreased circula... |
ORPHA:2495 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Abnormally low T cell receptor excision circl... |
OMIM:242700 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Blepharospasm, Hypoplasia of the thymus, High palate, Thyroid hypoplasi... |
ORPHA:861 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hypoplasia of the ear cartilage, Mediastinal lymphade... |
ORPHA:66661 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Optic atrophy, Retinal arteriolar tortuosity, Hypoparat... |
ORPHA:567 |
Oculopharyngodistal Myopathy |
|
High palate, Weight loss, Impaired oropharyngeal swallow response, Progressive sensorineural hear... |
ORPHA:98897 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcerative colitis... |
OMIM:618935 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Bifid uvula, Hepatic steatosis, Parathyroid hypoplasia,... |
OMIM:188400 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Hearing impairment, Optic atrophy |
OMIM:610965 |
Usher Syndrome |
|
Progressive visual loss, Cerebral cortical atrophy, Blindness, Visual field defect, Abnormality o... |
ORPHA:886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia |
OMIM:615181 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Cerebral visual impairment, Amblyopia, Spasticity, Seizure, Optic atrophy, Reduced visual acuity,... |
ORPHA:401777 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Spastic gait, Retinal degeneration, Macular degeneration, Ataxia, Spastic paraplegia, Babinski si... |
OMIM:270700 |
Whim Syndrome |
|
Lymphadenitis, Poor fine motor coordination, Seizure, Abnormality of neutrophil morphology, Limb ... |
ORPHA:51636 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Paraga... |
ORPHA:94080 |
Idiopathic Panuveitis |
|
Blindness, Vitreous haze, Reduced visual acuity, Vitreous floaters, Blurred vision, Choroidal neo... |
ORPHA:280921 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypohidrosis, Sensorineural hearing impairment, Ileus, Abnormal autonomic nervous system physiolo... |
OMIM:609136 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Hypoplasia of the thymus, Narrow palate, Torticollis, Macroglossia |
OMIM:617022 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Seizure, Small for gestation... |
ORPHA:30391 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Progressive visual loss, Bone spicule pigmentation of the ret... |
OMIM:618613 |
Webb-Dattani Syndrome |
|
Gastroesophageal reflux, Spasticity, Diabetes insipidus, Decreased response to growth hormone sti... |
OMIM:615926 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory evoked potenti... |
OMIM:201050 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Prolactinoma |
|
Progressive visual loss, Anterior hypopituitarism, Secondary growth hormone deficiency, Abnormali... |
ORPHA:2965 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Spasticity, Blindness, Ataxia, Babinski sign, Failure to thrive, Bilateral tonic-clonic seizure, ... |
OMIM:252010 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Small for gestational age, Abnormal auditory evoked potentials, Failure to thrive, C... |
OMIM:193700 |
Joubert Syndrome 35 |
|
Progressive visual loss, Rod-cone dystrophy, Oculomotor apraxia, Ataxia, Nyctalopia |
OMIM:618161 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Erythrokeratodermia Variabilis |
|
Protruding ear, Hearing impairment, Weight loss, Abnormal testis morphology |
ORPHA:317 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613756 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation... |
OMIM:600132 |
Leber Congenital Amaurosis 15 |
|
Hemeralopia, Peripapillary atrophy, Reduced visual acuity, Dull foveal reflex, Retinal degenerati... |
OMIM:613843 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Progressive visual loss, Euthyroid hyperthyroxinemia, Increased circula... |
ORPHA:91347 |
Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Ataxia, Babinski sign, Trem... |
OMIM:146500 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ... |
ORPHA:83471 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Reduce... |
ORPHA:440727 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Hypothyroidism, Anemia, Failure to thrive, Thrombocytopenia, Cholestasi... |
OMIM:608104 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Impaired pain sensation, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Febrile seizure (within the age range of 3 months to 6 years), Rod-cone dystrophy,... |
OMIM:260920 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Weight loss, Vertigo, Lymphadenopathy, Abnormal n... |
ORPHA:3226 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Constriction of peripheral visual field, Nyctalopia |
OMIM:604232 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Seizure, Abnormality of thyroid physiology, Small for gestational age, Hemiparesis, Statu... |
ORPHA:1830 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Macrotia, Narrow palate, Abnormal large intestine morphology, Cachexia, Intestinal polyposis, Ham... |
ORPHA:109 |
Cone-Rod Dystrophy 10 |
|
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of t... |
OMIM:610283 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole... |
OMIM:601847 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Orthostatic hypotension due to autonomic dysfunction, Spasticity, Seizure, Optic atrophy,... |
ORPHA:309271 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Hepatocellular carcinoma, Acholic stools, Cholelithiasis, Hearing impairment |
ORPHA:65682 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness, Cerebral palsy, Neonatal alloimmune thrombocytopenia, Gastrointestinal hemorrhage, Melena |
ORPHA:853 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, High palate |
OMIM:617523 |
Hermansky-Pudlak Syndrome 1 |
|
Blindness, Severely reduced visual acuity, Ocular albinism, Inflammation of the large intestine, ... |
OMIM:203300 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Pigmentary retinopathy, Asplenia, Hypothyroidism, Atrophic gastritis, Female hypogonadism, Decrea... |
OMIM:240300 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Seizure, Chorioretinal coloboma, Dysphagia |
ORPHA:163961 |
Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Bilateral cryptorchidism, Lymphopenia, Failure to thrive, Meckel diverticulum, ... |
OMIM:616395 |
Immunodeficiency 31C |
|
Hypothyroidism, Weight loss, Villous atrophy, Intussusception, Lymphopenia, Impaired lymphocyte t... |
OMIM:614162 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Anemia, Blindness, Optic atrophy, Retinal dystrophy, Ataxia, Hepatic... |
OMIM:243910 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea, Hyperinsulinemic hyp... |
OMIM:602579 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Spasticity, Tip-toe gait, Seizure, Optic atrophy, Progressive gait ataxia, Clumsines... |
ORPHA:309256 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Alg1-Cdg |
|
Seizure, Abnormality of the gastrointestinal tract, Cerebral atrophy, Cerebellar atrophy, Protein... |
ORPHA:79327 |
Usher Syndrome Type 2 |
|
Cerebral cortical atrophy, Hemianopia, Subcortical cerebral atrophy, Scotoma, Ataxia, Visual loss... |
ORPHA:231178 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Cryptococcosis |
|
Cirrhosis, Abnormal retinal morphology, Blindness, Seizure, Lymphoid leukemia, Vitritis, Cerebral... |
ORPHA:1546 |
Immunodeficiency 23 |
|
Cortical myoclonus, Somatic sensory dysfunction, Esophageal stricture, High palate, Hemolytic ane... |
OMIM:615816 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Nijmegen Breakage Syndrome |
|
Hearing abnormality, Anorectal anomaly, Macrotia, Hemolytic anemia, Cachexia, Anal atresia, Autoi... |
ORPHA:647 |
Mucopolysaccharidosis, Type Iiid |
|
Hyperactivity, Seizure, Macroglossia, Agitation, Cerebellar atrophy, Difficulty walking, Hepatome... |
OMIM:252940 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... |
ORPHA:909 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Rod-cone dystrophy, Retinal degeneration, Ataxia, Nyctalopia |
OMIM:266500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Hearing impairment, Optic atrophy |
ORPHA:220295 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Visual loss, Blindness, Abnormality of retinal pigmentation |
ORPHA:171844 |
Stickler Syndrome, Type I |
|
Blindness, Retinal hole, Myopia, Bifid uvula, Submucous cleft hard palate, Vitreoretinopathy, Ret... |
OMIM:108300 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Seizure, Blindness, Diplopia, Granuloma, Hemiparesis, Ataxia, Vis... |
ORPHA:68 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Seizure, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hype... |
OMIM:617780 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Sensorineural hearing impairment, Cachexia, Pancytopenia, Hepatosplenomegaly, Abnormality... |
ORPHA:2072 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolyt... |
OMIM:616100 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Blindness, Hyperthyroidism, In... |
OMIM:174800 |
Momo Syndrome |
|
High palate, Seizure, Blindness, Large for gestational age, Chorioretinal coloboma, Abnormality o... |
ORPHA:2563 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
X-Linked Agammaglobulinemia |
|
Anemia, Sensorineural hearing impairment, Weight loss, Malabsorption, Failure to thrive, Chronic ... |
ORPHA:47 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Somatic sensory dysfunction, Tritanomaly, Blindness, Red-green dyschromatopsia, Optic atrophy, Po... |
ORPHA:67036 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Fa... |
OMIM:607765 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Trisomy 18 |
|
Pointed helix, Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Cryptorchidism, Low-set... |
ORPHA:3380 |
Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal pyramidal s... |
ORPHA:801 |
Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadeno... |
ORPHA:2686 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... |
ORPHA:90362 |
Friedreich Ataxia |
|
Gait ataxia, Optic atrophy, Visual field defect, Decreased amplitude of sensory action potentials... |
OMIM:229300 |
Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Ly... |
OMIM:613179 |
Medullary Thyroid Carcinoma |
|
Hyperhidrosis, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopathy, Dysphagia, Primary... |
ORPHA:1332 |
Immunodeficiency 49 |
|
T lymphocytopenia, Seizure, Spastic tetraplegia, Decreased proportion of naive CD4 T cells, Lymph... |
OMIM:617237 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Agenesis of corpus callosum |
OMIM:109120 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Fat malabsorption, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahep... |
OMIM:211600 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Hypoplasia of the thymus, Pyloric stenosis, Accessory spleen, Rectal pro... |
OMIM:613177 |
Lysosomal Acid Lipase Deficiency |
|
Anemia, Weight loss, Hypersplenism, Cachexia, Steatorrhea, Hepatosplenomegaly, Failure to thrive,... |
ORPHA:275761 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Gastrointesti... |
ORPHA:79319 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Gastric varix |
OMIM:613490 |
Hermansky-Pudlak Syndrome 2 |
|
Gastroesophageal reflux, Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged pla... |
OMIM:608233 |
Hydranencephaly |
|
Cerebral cortical atrophy, Blindness, Seizure, Spastic diplegia, Atrophic pituitary gland, Optic ... |
ORPHA:2177 |
Pleural Mesothelioma |
|
Lymphadenopathy, Weight loss, Dysphagia |
ORPHA:50251 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Retinopathy, Blindness, Weight loss, Reduced visual acuity, Retinal pigme... |
OMIM:219800 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Isolated Complex I Deficiency |
|
Blindness, Ataxia, Failure to thrive, Diabetes mellitus, Optic neuropathy, Hepatomegaly, Lethargy... |
ORPHA:2609 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss, Mediastinal lymphadenopathy |
ORPHA:545 |
Hermansky-Pudlak Syndrome 6 |
|
Amblyopia, Ocular albinism, Macular hypoplasia, Impaired ADP-induced platelet aggregation, Photop... |
OMIM:614075 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Cockayne Syndrome |
|
Gastroesophageal reflux, Optic atrophy, Anhidrosis, Cachexia, Progressive sensorineural hearing i... |
ORPHA:191 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Spasticity, Seizure, Optic atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Cholecyst... |
ORPHA:309263 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Optic atrophy, Type I diabetes mellitus, Pancytopenia, Hepatosplenomegaly, Ly... |
OMIM:615688 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Steatorrhea, Hepatic steatosis, Failur... |
ORPHA:79303 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... |
OMIM:209950 |
Tarp Syndrome |
|
Seizure, Optic atrophy, Tongue nodules, Abnormal duodenum morphology, Extramedullary hematopoiesi... |
ORPHA:2886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Blindness, Seizure, Optic atrophy, Retinal atrophy, Myopia, Anal atresia, Optic nerve hypoplasia,... |
OMIM:236670 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Kanzaki Disease |
|
Sensorineural hearing impairment, Vertigo, Peripheral axonal neuropathy, Cerebral atrophy, Axonal... |
OMIM:609242 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
Cranioectodermal Dysplasia 4 |
|
Rod-cone dystrophy, Bone marrow hypocellularity, Visual impairment, Hypermetropia, Nyctalopia |
OMIM:614378 |
Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Malabsorption, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopa... |
ORPHA:98850 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Achromatopsia 2 |
|
Hemeralopia, Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Photophobia, Achromatop... |
OMIM:216900 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Macroglossia, Blindness, Dysphagia |
ORPHA:79107 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:767 |
Dpagt1-Cdg |
|
Global brain atrophy, Anemia, Rod-cone dystrophy, Cerebral cortical atrophy, Seizure, Optic atrop... |
ORPHA:86309 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cerebral cortical atrophy, Megaloblastic anemia, Seizure, Reduced visual acuity, Abnormality of e... |
OMIM:277400 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Tongue atrophy, Absent brainstem auditory responses, Cervical s... |
ORPHA:101085 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacter pylori infection, Monocytosis... |
ORPHA:2688 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia, Chorioretinal scar |
OMIM:277175 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Macrocephaly/Autism Syndrome |
|
High palate, Large for gestational age, Hydrocele testis, Lymphopenia, Hepatomegaly, Obesity, Spl... |
OMIM:605309 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Reduced visual acuity, Photophobia, Spastic paraplegia, Babinski sign, Ataxia, Dysmet... |
OMIM:618527 |
Retinitis Pigmentosa 45 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Peripheral vis... |
OMIM:613767 |
Myopathy, Tubular Aggregate, 1 |
|
Frequent falls, Nyctalopia |
OMIM:160565 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Weight loss, Schwannoma, O... |
ORPHA:221098 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Goiter |
ORPHA:142 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... |
OMIM:261000 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Camurati-Engelmann Disease |
|
Leukopenia, Splenomegaly, Anemia, Optic nerve compression, Optic atrophy, Cachexia, Slender build... |
ORPHA:1328 |
Momo Syndrome |
|
Obesity, High palate, Blindness, Retinal coloboma |
OMIM:157980 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy... |
OMIM:102700 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Tritanomaly, Retinal pigment epithelial mottling, Photophobia, Parace... |
OMIM:619649 |
Retinitis Pigmentosa 75 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:617023 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... |
ORPHA:276 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Rod-cone dystrophy, Cerebral cortical atrophy, Cerebellar atrophy, Myopia, High m... |
OMIM:617763 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Seizure, Hypogonadism, Adrenal insufficiency, Ataxia, Lymphopenia, Cryptorchidism |
OMIM:617575 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Optic nerve compression, Weight loss, Blindness, Nodular goiter, Thyroi... |
ORPHA:79078 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Hyperhidrosis, Decreased thyroid-stimulating hormone level, Weight loss |
OMIM:275000 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Vici Syndrome |
|
Leukopenia, High palate, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Gastritis, Bone marr... |
ORPHA:3261 |
Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Paraga... |
ORPHA:276621 |
Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Macular edema, Reduced visual acuity, Hepatitis, Hemiparesis, Jaundic... |
ORPHA:319251 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Amblyopia, Blindness, Abnormality of the anus, Abnormal testis morphology, Vitritis, Seizure, Ret... |
ORPHA:2556 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Hypochromic microcytic anemia, Ves... |
ORPHA:3240 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Weight loss |
ORPHA:103910 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Retinopathy, Abnormal foveal morphology, Optic atrophy, Seizure, Peripheral visual... |
ORPHA:580 |
Budd-Chiari Syndrome |
|
Weight loss, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Esophageal varix... |
ORPHA:131 |
Norrie Disease |
|
Retinal fold, Blindness, Seizure, Optic atrophy, Retinal dysplasia, Retinal detachment |
OMIM:310600 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Progressive hearing impairment, Weight loss, Lymphocytosis, Hypochromic anemia, Acute mon... |
ORPHA:514 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cerebellar cortical atrophy, Cleft soft palate, Optic atrophy, Decreased testicular size, Retinal... |
OMIM:619321 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Diplopia, Seizure, Hypog... |
ORPHA:91351 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion, Blindness |
ORPHA:73267 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Gastrointestinal hemorrhage, Dysphagia, T... |
ORPHA:319218 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Fat malabsorption, Steatorrhea, Exocrine pancreatic insufficiency, Cholelit... |
ORPHA:309108 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Glossitis, Macroglossia, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Proteus-Like Syndrome |
|
Myopia, Polycystic ovaries, Retinal detachment, Abnormality of the parathyroid gland, Thymus hype... |
ORPHA:2969 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Weight loss, Pituitary adenoma, Neuroendocrine neo... |
ORPHA:97289 |
Trisomy 10P |
|
Absent gallbladder, Gastroesophageal reflux, Macrotia, High palate, Low voltage EEG, Small for ge... |
ORPHA:171929 |
Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... |
ORPHA:300385 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Small for gestational age, Macroglossia, Hepatomegaly, Cryptorchidism, Protein-lo... |
OMIM:618440 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Narrow palate, Decreased response to growth hormone stimulation test, T... |
OMIM:618223 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Microtia |
OMIM:619817 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Anemia, Lymphopenia, Squamous cell carcinoma of the tongue, Persistence of hemogl... |
OMIM:618849 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Weight loss, Abnormality of the gastroint... |
ORPHA:33276 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Progressive visual loss, Retinal degeneration, Progressive night blindness, Paracentral scotoma, ... |
OMIM:210370 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal peripheral myelination, Small for gesta... |
OMIM:133540 |
Schwartz-Jampel Syndrome |
|
Decreased body weight, High palate, Testicular torsion, Decreased testicular size, Cachexia, Low-... |
ORPHA:800 |
Wolfram Syndrome |
|
Anemia, Cerebral cortical atrophy, Sensorineural hearing impairment, Optic atrophy, Malabsorption... |
ORPHA:3463 |
Seckel Syndrome |
|
Cachexia, Abnormal earlobe morphology, Absent earlobe |
ORPHA:808 |
Bardet-Biedl Syndrome 20 |
|
Hemeralopia, Rod-cone dystrophy, Retinal vascular tortuosity, Bilateral cryptorchidism, Obesity, ... |
OMIM:619471 |
Cockayne Syndrome Type 1 |
|
Hypohidrosis, Abnormality of peripheral nerve conduction, Macrotia, Anemia, Optic atrophy, Absent... |
ORPHA:90321 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Seizure, Abnormality of the gastrointestinal tract, Microangiopathic hemolytic anemia... |
ORPHA:93552 |
Aica-Ribosiduria |
|
Congenital blindness, Seizure |
ORPHA:250977 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, T... |
ORPHA:507 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Anemia, Villous atrophy, Weight loss, Increased intestinal transit tim... |
OMIM:619377 |
Dysosteosclerosis |
|
Blindness, High palate, Seizure, Optic atrophy, Facial paralysis |
OMIM:224300 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Hypop... |
OMIM:614074 |
Takayasu Arteritis |
|
Hyperhidrosis, Anemia, Gastrointestinal infarctions, Weight loss |
ORPHA:3287 |
Eec Syndrome |
|
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... |
ORPHA:1896 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Optic atrophy,... |
OMIM:614947 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Seizure, Neuronal loss in central nervous system, Failure to thrive, Meckel diverticulum, Central... |
OMIM:602613 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Anemia, Cerebellar vermis atrophy, Dysdiadochokinesis, Apraxia, Gait disturbance,... |
OMIM:616541 |
Icf Syndrome |
|
Anemia, Malabsorption, Macroglossia, Lymphopenia, Abnormality of neutrophils, Protruding tongue |
ORPHA:2268 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
Zygomycosis |
|
Brain abscess, Blurred vision, Gastritis, Colitis, Hematemesis, Abnormal cranial nerve morphology... |
ORPHA:73263 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Sensorineural h... |
ORPHA:1018 |
Thymic Carcinoma |
|
Hyperhidrosis, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Cerebral cortical atrophy, Visual field defect, Retinal degeneration, Cryptor... |
ORPHA:166035 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal peripheral myelination, Abnormal audito... |
OMIM:216400 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Fat malabsorption, Intrahepatic cholestasis, Failure to thrive, Prolonged prothrombin time, Hepat... |
OMIM:214950 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness, Seizure, Optic atrophy |
OMIM:608688 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hearing abnormality, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Duodenal ulcer, Weight loss, Parathyroid hype... |
ORPHA:913 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Ataxia, Bone marrow hypocellularity... |
OMIM:127550 |
Giant Cell Arteritis |
|
Hyperhidrosis, Conductive hearing impairment, Weight loss, Optic atrophy, Glossitis, Vertigo, Med... |
ORPHA:397 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Patent ductus arteriosus after premature birth, Lymphopenia, Failure to thrive, Visual im... |
OMIM:618460 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Bone marrow hypocellul... |
ORPHA:811 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness, Seizure |
OMIM:603387 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Seizure, Fulminant hepatitis, Resting tremor, Lymphopenia, Bilateral tonic-clonic sei... |
ORPHA:319213 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Anal atresia, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:1572 |
Cerebrooculonasal Syndrome |
|
High palate, Blindness |
ORPHA:66625 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness, Anal stenosis, Cryptorchidism |
OMIM:601499 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Wolfram Syndrome 2 |
|
Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Gastric ulcer |
OMIM:604928 |
Microsporidiosis |
|
Lymphadenitis, Weight loss, Cachexia, Glossitis, Decreased proportion of CD4-positive helper T ce... |
ORPHA:2552 |
Norrie Disease |
|
Cerebral cortical atrophy, Macrotia, Sensorineural hearing impairment, Optic atrophy, EEG abnorma... |
ORPHA:649 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Villous atrophy, Reticulocytopenia, Malabsorption, Small for gestational age, Refractory ... |
OMIM:557000 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Fat malabsorption, Jaundice, Hepatosplenomegaly, Bile duct proliferation, Cholestasis |
ORPHA:79302 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, H... |
OMIM:235255 |
Malignant Peritoneal Mesothelioma |
|
Weight loss, Ileus |
ORPHA:168811 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, T lymphocytopenia, Villous atrophy, B lymphocytopenia, Hepatitis, Neutropenia in p... |
ORPHA:391487 |
Cartilage-Hair Hypoplasia |
|
Congenital hypoplastic anemia, Anemia, Esophageal atresia, Malabsorption, Aganglionic megacolon, ... |
OMIM:250250 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Narrow palate, Seizure, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Peri... |
OMIM:235510 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Increased serum testosterone level, Small for gestational age, Truncal ... |
OMIM:264090 |
Stickler Syndrome |
|
Gastroesophageal reflux, Sensorineural hearing impairment, Glossoptosis, Cachexia, Macroglossia, ... |
ORPHA:828 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Pancytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Bone marrow hypo... |
OMIM:619767 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Seizure, Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal autonomic nervous sys... |
ORPHA:330001 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Retinopathy, Increased size of nasopharyngeal adenoids, Optic atrophy, Abnormal foveal morphology... |
ORPHA:217085 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Increased stool urobilinogen concentration, Hemolytic anemia, Blindness, Paresthesia,... |
ORPHA:79277 |
Legionnaires Disease |
|
Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Ataxia, Lymphadenopathy, Bone marrow hypocellular... |
ORPHA:549 |
Mucoepithelial Dysplasia, Hereditary |
|
Blindness, Eosinophilia, Furrowed tongue, Photophobia, Melena |
OMIM:158310 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Retinopathy, Increased size of nasopharyngeal adenoids, Optic atrophy, Abnormal foveal morphology... |
ORPHA:217093 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia |
ORPHA:1969 |
Lowry-Wood Syndrome |
|
Small for gestational age, Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Rod-cone dystrophy, Retinal dystrophy, Intrahepatic bile duct dilatation, Macul... |
OMIM:616307 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Amblyopia, Tractional retinal detachment, Blindness, Macular hypoplasia, Hyaloid va... |
ORPHA:91495 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Paraga... |
ORPHA:29072 |
Enhanced S-Cone Syndrome |
|
Hemeralopia, Macular edema, Vitreoretinopathy, Retinoschisis, Pigmentary retinopathy, Nyctalopia |
OMIM:268100 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality |
ORPHA:206448 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Gastroesophageal reflux, Intestinal perforation, Anemia, Primary ... |
ORPHA:85450 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Volvulus, Aganglionic megacolon, Anal atr... |
ORPHA:210122 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Weight loss, Malabsorption, Neoplasm of the rectum, Neoplasm of the pa... |
ORPHA:144 |
Leprosy |
|
Abnormality of the liver, Testicular mass, Blindness, Paresthesia, Abnormal autonomic nervous sys... |
ORPHA:548 |
Cherubism |
|
Submandibular lymph node enlargement, Narrow palate, Marcus Gunn pupil, Macular scar, Constrictio... |
OMIM:118400 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Stomach cancer, Weight loss, Malabsorption, Neoplasm of the rectum, Ne... |
ORPHA:440437 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, High palate, Cutaneous abscess, Lymphopenia, Neutropenia |
OMIM:619752 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Weight loss, Malabsorption, Central nervous system degeneration, Intesti... |
ORPHA:183 |
Acrodermatitis Enteropathica |
|
Cerebral cortical atrophy, Weight loss, Malabsorption, Glossitis, Failure to thrive, Furrowed tongue |
ORPHA:37 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Glossitis, Reticulocytosis, Pancytopenia,... |
ORPHA:35858 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Blindness, Optic nerve hypoplasia |
OMIM:617914 |
Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Esophageal atresia, Agenesis of corpus callosum, Perineal fistula, Anal ... |
ORPHA:2538 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphat... |
ORPHA:98849 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric... |
ORPHA:64743 |
Mogs-Cdg |
|
High palate, Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses... |
ORPHA:79330 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Sensorineural hearing impairment, Weight loss, Atrophy/Degeneration involving the spinal cord, Ab... |
OMIM:607459 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Williams Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Macrotia, Cerebral cor... |
ORPHA:904 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Increased T cell count, Parotitis, Eosinophilia, ... |
ORPHA:797 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Late-Onset Isolated Acth Deficiency |
|
Weight loss, Normocytic anemia, Pituitary adenoma, Vertigo, Failure to thrive, Celiac disease, Hy... |
ORPHA:199299 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529808 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Bone spicule pigmentation of the retina, Myopia, Congenital stationary night blindne... |
OMIM:257270 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Prot... |
ORPHA:731 |
Felty Syndrome |
|
Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia... |
ORPHA:47612 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the liver, Hepatosplenomegaly, Colon cancer, ... |
ORPHA:1333 |
Joubert Syndrome 5 |
|
Congenital blindness, Rod-cone dystrophy, Oculomotor apraxia, Ataxia, Cleft palate, Reduced visua... |
OMIM:610188 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Decreased CD4:CD8 ratio, Hemolytic anemia, Villous atrophy, Small for gestati... |
OMIM:619573 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Iron deficiency ... |
OMIM:301074 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Failure to thrive, Follicular hyperplasia, Thrombocytosis, Parat... |
OMIM:615934 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hepatom... |
ORPHA:1655 |
Cogan Syndrome |
|
Anemia, Blindness, Photophobia, Thrombocytosis, Leukocytosis, Reduced visual acuity |
ORPHA:1467 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Grfoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Palmoplantar hyp... |
ORPHA:97261 |
Pineoblastoma |
|
Retinoblastoma, Seizure, Reduced visual acuity, Pinealoma, Paralysis, Progressive visual field de... |
ORPHA:251909 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Alström Syndrome |
|
Poor fine motor coordination, Somatic sensory dysfunction, Cone/cone-rod dystrophy, Hepatosplenom... |
ORPHA:64 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Weight loss, Vertigo, Gastrointestinal hemorrhage, Ga... |
ORPHA:679 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Villous atrophy, Duodenitis |
OMIM:614328 |
Polycythemia Vera |
|
Weight loss, Vertigo, Gastrointestinal hemorrhage, Tinnitus, Acute leukemia, Splenomegaly |
ORPHA:729 |
Hepatoerythropoietic Porphyria |
|
Blindness, Hemolytic anemia, Paresthesia, Erythroid hyperplasia, Increased fecal porphyrin, Splen... |
ORPHA:95159 |
Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Horner syndrome, Weight loss, Ganglioneuroma, Failure to thrive |
OMIM:256700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:2902 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Biliary atresia, Rectal fistula, Volvulus, Anal atresia, Intestinal mal... |
OMIM:115470 |
Herpes Simplex Virus Stromal Keratitis |
|
Reduced visual acuity, Blindness |
ORPHA:137599 |
Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hemolytic anemia, Weight loss, Optic atrophy, Lateral ventricle dilatation, Hepatosplenom... |
OMIM:619487 |
Systemic Sclerosis |
|
Gastroesophageal reflux, Hypohidrosis, Gastrointestinal telangiectasia, Abnormal large intestine ... |
ORPHA:90291 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Weight loss, Abnormality of the gastrointestinal tract, Abnormal aut... |
ORPHA:85443 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Increased stool alpha1-antitrypsin concentration, Intussusception, Malabsorption, Volv... |
ORPHA:90363 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfectious lymphaden... |
ORPHA:100080 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Weight loss |
OMIM:613239 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Spasticity, Amblyopia, Peripapillary atrophy, Hemolytic anemia, Seizure, Foca... |
OMIM:175780 |
Wilson Disease |
|
Anemia, Weight loss, Failure to thrive, Thrombocytopenia, Splenomegaly, Increased body weight |
ORPHA:905 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Castleman Disease |
|
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Decr... |
ORPHA:160 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Intestinal obstruction, Weight loss |
ORPHA:449400 |
Plasminogen Deficiency, Type I |
|
Blindness, Duodenal ulcer |
OMIM:217090 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... |
OMIM:613673 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Ppoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Neoplasm of the ... |
ORPHA:97278 |
Vipoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Malabsorption, N... |
ORPHA:97282 |
Monosomy 22 |
|
High palate, Hepatosplenomegaly, Hypochromic microcytic anemia, Hypertonia, Aplasia of the thymus |
ORPHA:96123 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotation, Meckel diverticulu... |
ORPHA:1666 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Failure to thrive, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenome... |
OMIM:617591 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfectious lymphaden... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfectious lymphaden... |
ORPHA:100082 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Brain abscess, Neoplasm of the ga... |
ORPHA:2929 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Weight loss |
OMIM:188580 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Weight loss, Eosinophilia |
ORPHA:3165 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:652 |
Congenital Microcoria |
|
Hemeralopia, Axial myopia, Blindness, Blurred vision, Visual impairment, Photophobia, Nyctalopia |
ORPHA:566 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Pancytopenia, Vertigo, Lymphadenopathy, Leukocytosis, Thrombocyt... |
ORPHA:520 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Weight loss, Gastrointestinal dysmotility, Intestinal obstruction, Leukocytosis, Acute co... |
ORPHA:67 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Spasticity, Blindness, Seizure, Decreased testicular size, Retinal dysplasia |
OMIM:615287 |
Renpenning Syndrome 1 |
|
Spasticity, High palate, Seizure, Blindness, Decreased testicular size, Anal atresia, Cerebral at... |
OMIM:309500 |
Mend Syndrome |
|
High palate, Abnormal auditory evoked potentials, Failure to thrive, Cryptorchidism, Low-set ears... |
ORPHA:401973 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Familial Thrombocytosis |
|
Hyperhidrosis, Acute myeloid leukemia, Weight loss, Vertigo, Thrombocytosis, Splenomegaly, Chroni... |
ORPHA:71493 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tumor, Carcinoid... |
ORPHA:100075 |
Marfan Syndrome |
|
Slender build, Cleft palate, Cachexia, High, narrow palate |
ORPHA:558 |
17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Progressive visual loss, Precocious puberty, Blindness, Retinal vascular pr... |
ORPHA:97685 |
Saul-Wilson Syndrome |
|
Neutropenia, Nyctalopia |
OMIM:618150 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Rod-cone dystrophy, Peripheral visual field loss, Retinal degeneration, Hypoautofluorescent retin... |
OMIM:250410 |
Oculopharyngodistal Myopathy 1 |
|
Sensorineural hearing impairment, Brain atrophy, Weight loss, High palate, Dysphagia, Facial palsy |
OMIM:164310 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Anemia, Weight loss |
ORPHA:324964 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Malabsorption, Aganglionic megacolon, Lymphopenia |
ORPHA:935 |
Fusariosis |
|
Brain abscess, Abnormality of the liver, Abnormal retinal morphology, Granuloma, Peritonitis, Lun... |
ORPHA:228119 |
Proteus Syndrome |
|
Macroorchidism, Macrotia, Narrow internal auditory canal, Enlarged polycystic ovaries, Cachexia, ... |
ORPHA:744 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Weight loss, Pure red cell aplasia, Ulcerative colitis, I... |
ORPHA:99867 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Seizure, Abnormality of the gastrointestinal tract, Jaundice, Atypical absence status... |
ORPHA:99826 |
Primary Sjögren Syndrome |
|
Chorea, Leukopenia, Biliary cirrhosis, Somatic sensory dysfunction, Abnormality of the peripheral... |
ORPHA:289390 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Splenomegaly, Panniculitis |
ORPHA:33577 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Spasticity, T lymphocytopenia, Spastic diplegia, Lymphopenia, Autoimmune thromboc... |
OMIM:607944 |
Klatskin Tumor |
|
Lymphadenopathy, Cholangiocarcinoma, Weight loss |
ORPHA:99978 |
Hennekam Syndrome |
|
Seizure, Malabsorption, Pulmonary lymphangiectasia, Pyloric stenosis, Lymphopenia, Lymphadenopath... |
ORPHA:2136 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Blindness, Abnormality of the anus, Seizure, Abnormality of ... |
OMIM:219000 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Gastrointestinal obstruction, Weight loss, Lymphadenopathy, Small intestine c... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Gastrointestinal obstruction, Weight loss, Lymphadenopathy, Small intestine c... |
ORPHA:100077 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Intestinal perforation, Anemia, Blindness, Abnormality of the anus, Renal tubular epithelial necr... |
ORPHA:95455 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Amblyopia, Blindness, Hypogonadism, Bifid uvula, Submucous cleft hard palate, Visual loss, Crypto... |
ORPHA:2250 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Photophobia, Blindness, Oral leukoplakia |
OMIM:148210 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Steatorrhea, Failure to thrive, Celiac disease, Thrombocytosis, Macrocytic anemia, I... |
OMIM:212750 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Weight loss, Abnormal testis morphology, Neutrophilia |
ORPHA:54251 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Somatostatinoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Neoplasm of the ... |
ORPHA:97283 |
8P23.1 Microdeletion Syndrome |
|
High palate, Weight loss, External ear malformation, Cryptorchidism, Low-set ears, Obesity |
ORPHA:251071 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
Mungan Syndrome |
|
Barrett esophagus, Hypoperistalsis, Megaduodenum, Abnormality of the autonomic nervous system, In... |
OMIM:611376 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, High myopia, Narrow palate, Blindness |
OMIM:277600 |
Aicardi-Goutieres Syndrome 7 |
|
Anemia, Atrophic gastritis, Hemolytic anemia, Weight loss, Generalized lymphadenopathy, Pancytope... |
OMIM:615846 |
Osteoporosis-Pseudoglioma Syndrome |
|
Congenital blindness, Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy,... |
OMIM:259770 |
Fanconi Anemia |
|
Abnormal testis morphology, Cleft palate, Thrombocytopenia, Abnormality of vision, Aplasia/Hypopl... |
ORPHA:84 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Blindness, Abnormality of vision |
ORPHA:1806 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Glucagonoma |
|
Acanthocytosis, Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, ... |
ORPHA:97280 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Fryns Syndrome |
|
Seizure, Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Large for gestatio... |
OMIM:229850 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Testicular atrophy, Splenomegaly |
ORPHA:465508 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Myopia, Blindness, Gastrointestinal hemorrhage |
OMIM:225400 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Pierson Syndrome |
|
Retinal hemorrhage, Blindness, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation ... |
OMIM:609049 |
Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
Toxic Epidermal Necrolysis |
|
Intestinal perforation, Anemia, Weight loss, Malabsorption, Tracheoesophageal fistula, Gastrointe... |
ORPHA:537 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Neoplasm of the liver, Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectio... |
ORPHA:100085 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Thrombocytopenia, Anemia, Weight loss |
ORPHA:90060 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Weight loss |
ORPHA:79242 |
Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Weight loss |
ORPHA:90003 |
Hardikar Syndrome |
|
Cleft soft palate, Hypersplenism, Esophageal varix, Vertigo, Mild hearing impairment, Failure to ... |
OMIM:301068 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Cholelithiasis, Weight loss |
ORPHA:171876 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Crohn's disease, Reduced natural killer cell count, Duodenal ulcer, Weight loss, Villous ... |
OMIM:619381 |
Short Syndrome |
|
Sensorineural hearing impairment, Weight loss |
ORPHA:3163 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Reduced visual acuity, Nyctalopia |
ORPHA:98974 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Weight loss, Polycythemia, Lymphadenopathy, Thromb... |
ORPHA:2905 |
Polymyositis |
|
Gastroesophageal reflux, Gastrointestinal hemorrhage, Weight loss |
ORPHA:732 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Weight loss, Biliary tract neoplasm |
ORPHA:100086 |
Liver Disease, Severe Congenital |
|
Poor fine motor coordination, Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatos... |
OMIM:619991 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Scedosporiosis |
|
Diabetes mellitus, Abnormal jejunum morphology |
ORPHA:449280 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Patent ductus arteriosus, Asplenia, Congenital shortened small intestine, Esophageal atresia, Pul... |
OMIM:265380 |
Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, High palate, Narrow palate, Blindness, High myopia |
OMIM:608328 |
Reynolds Syndrome |
|
Biliary cirrhosis, Jaundice, Steatorrhea, Lymphopenia, Cholestasis, Gastrointestinal hemorrhage, ... |
OMIM:613471 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Cerebral atrophy |
OMIM:619036 |
Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulating growth hor... |
ORPHA:97287 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Weight loss, Failure to thrive, Peripheral axonal neuropathy, Hearing impa... |
ORPHA:99885 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Senior-Loken Syndrome 3 |
|
Visual loss, Congenital blindness, Polydipsia |
OMIM:606995 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Morphological abnormality of the gastrointestinal tract, Meckel diverticu... |
ORPHA:2847 |
Loeffler Endocarditis |
|
Weight loss, Eosinophilia |
ORPHA:75566 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Seizure, Abnormality of the gastrointestinal tract, Small for gestation... |
ORPHA:1708 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Weight loss, Neoplasm of the pancreas, Vertigo, Ovarian neoplasm |
ORPHA:370348 |
Caroli Disease |
|
Weight loss, Cholangiocarcinoma, Leukocytosis, Cholelithiasis, Esophageal varix, Splenomegaly |
ORPHA:53035 |
Addison Disease |
|
Primary testicular failure, Weight loss, Normocytic anemia, Vertigo, Thiamine-responsive megalobl... |
ORPHA:85138 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Anemia, Exocrine pancreatic insuffici... |
OMIM:620005 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Weight loss, EEG abnormality, Hypsarrhythmia, Thrombocytosis, Leukocytosis |
ORPHA:20 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Hypothyroidism, Cerebral cortical atrophy, High palate, Blindness, Anterior ... |
OMIM:607932 |
Brucellosis |
|
Hyperhidrosis, Leukopenia, Anemia, Weight loss, Abnormality of the gastrointestinal tract, Small ... |
ORPHA:1304 |
Adrenocortical Carcinoma |
|
Hyperhidrosis, Adrenocorticotropic hormone deficiency, Weight loss, Increased body weight |
ORPHA:1501 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Visceral Myopathy 1 |
|
Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Dysphagia, Intestinal pseudo-obstr... |
OMIM:155310 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:424 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Patent ductus arteriosus, Anemia, Seizure, Hepatosplenomegaly, Meckel diverticu... |
OMIM:274000 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Optic nerve compression, Increased circulating cortisol lev... |
ORPHA:96253 |
Stevens-Johnson Syndrome |
|
Anemia, Esophageal stricture, Weight loss, Abnormality of neutrophils, Gastrointestinal hemorrhag... |
ORPHA:36426 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:2126 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss |
ORPHA:188 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Abnormal duodenum morphology, Myopia, Intestinal malrotation, Dysesthesia, Cryptorch... |
OMIM:601776 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss, Splenic cyst, Eosinophilia, Ovarian cyst |
ORPHA:400 |
Microphthalmia, Syndromic 1 |
|
High palate, Seizure, Blindness, Spastic diplegia, Aganglionic megacolon, Pyloric stenosis, Anal ... |
OMIM:309800 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anemia, Weight loss |
ORPHA:71273 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Lymphadenopathy, Weight loss, Eosinophilia |
ORPHA:139402 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Decreased body weight, Enlarged polycystic ovaries, Weight loss, Abnormality of body ... |
ORPHA:2298 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Chronic lymphatic leukemia, Weight loss, Abnormality of the gastroin... |
ORPHA:91139 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Weight loss, Abnormality of the parathyroid morphology, ... |
ORPHA:143 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Weight loss, Testicular adrenal rest tumor, Failure to thrive, Cryptorchidism |
ORPHA:361 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Ulcerativ... |
ORPHA:171 |
Hermansky-Pudlak Syndrome |
|
Malabsorption, Gastrointestinal hemorrhage, Neutropenia, Weight loss |
ORPHA:79430 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Generalized lymphadenopathy, Pancytopenia, Inflammation of the large intestine, Abno... |
OMIM:181000 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Mediastinal lymphadenopathy, Weight loss |
ORPHA:79128 |
Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Cleft palate, Lymphopenia, Patent ductus arteriosus |
ORPHA:2306 |
Arteriosclerosis, Severe Juvenile |
|
Anemia, Gastric ulcer |
OMIM:208060 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Steatorrhea, Weight loss, Colitis |
ORPHA:309031 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Splenomegaly, Eosinophilia |
ORPHA:75565 |
Menke-Hennekam Syndrome 1 |
|
Gastroesophageal reflux, High palate, Seizure, Blindness, Cryptorchidism, Cleft palate, Hypermetr... |
OMIM:618332 |
Malt Lymphoma |
|
Hyperhidrosis, Anemia, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Weight loss |
ORPHA:134 |
Thyrotoxic Periodic Paralysis |
|
Hyperhidrosis, Abnormality of peripheral nerve conduction, Obesity, Weight loss |
ORPHA:79102 |
Acute Adrenal Insufficiency |
|
Weight loss, Normocytic anemia, Vertigo, Failure to thrive, Orthostatic hypotension |
ORPHA:95409 |
Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Charge Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Gonadotropin deficiency, Decreased response to growth h... |
OMIM:214800 |
Mucolipidosis Type Ii |
|
Conductive hearing impairment, Sensorineural hearing impairment, Weight loss, Hepatosplenomegaly,... |
ORPHA:576 |
Multiple Myeloma |
|
Anemia, Weight loss, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Splen... |
ORPHA:29073 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Neutropenia, Weight loss, Abnormality of the ... |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Sensorineural hearing impairment, Weight loss, Granulomatosis, Otitis media, Intestinal obstructi... |
ORPHA:900 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Anemia, Weight loss, Abnormal spleen morphology, Vertigo, Eosinophilia |
ORPHA:284 |
Hepatocellular Carcinoma |
|
Anemia, Weight loss, Polycythemia, Thrombocytosis, Esophageal varix, Thrombocytopenia, Abnormal r... |
ORPHA:88673 |
Fraser Syndrome |
|
High palate, Bifid tongue, Ectopic anus, Blindness, Anal atresia, Cryptorchidism, Anal stenosis |
ORPHA:2052 |
Coffin-Siris Syndrome 1 |
|
High palate, Duodenal ulcer, Intussusception, Intestinal malrotation, Partial agenesis of the cor... |
OMIM:135900 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism, P... |
OMIM:618183 |
Q Fever |
|
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:781 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Hyperhidrosis, Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Weight loss, Dysphagia |
ORPHA:93672 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Chronic otitis media, Weight loss |
OMIM:608710 |
Viss Syndrome |
|
Hypothyroidism, Bifid tongue, Cleft soft palate, Bifid uvula, Submucous cleft soft palate, Celiac... |
OMIM:619472 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Pancreatic calcification, Abnormal pancreatic duct morphology, Weight ... |
ORPHA:103918 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Weight loss |
ORPHA:677 |
Corneodermatoosseous Syndrome |
|
Hemeralopia, Photophobia, Nyctalopia |
ORPHA:3194 |
Erdheim-Chester Disease |
|
Hyperhidrosis, Anemia, Weight loss |
ORPHA:35687 |
Postinfectious Vasculitis |
|
Abnormality of the peripheral nervous system, Weight loss, Gastrointestinal inflammation, Orchiti... |
ORPHA:48435 |
Pyomyositis |
|
Leukocytosis, Testicular teratoma, Weight loss |
ORPHA:764 |
Rat-Bite Fever |
|
Lymphadenitis, Anemia, Parotitis, Weight loss |
ORPHA:31205 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Otitis media, Weight loss |
ORPHA:420741 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Lymphadenopathy, Weight loss, Hepatosplenomegaly |
ORPHA:85408 |
Reactive Arthritis |
|
Inflammation of the large intestine, Weight loss |
ORPHA:29207 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hydrocele testis, Weight loss |
ORPHA:49041 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Esophageal stricture, Weight loss, Esophageal ulceration, Abnormal esoph... |
ORPHA:99921 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, High palate, Weight loss, Dysphagia |
ORPHA:2020 |
Hutchinson-Gilford Progeria Syndrome |
|
Conductive hearing impairment, High palate, Weight loss, Low-frequency sensorineural hearing impa... |
ORPHA:740 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormality of the anterior pituitary, Weight loss, Lymphadenopathy, Eosinophilia,... |
ORPHA:449395 |
African Trypanosomiasis |
|
Weight loss, Hepatosplenomegaly, Abnormal prolactin level, Lymphadenopathy, Papilledema, Splenome... |
ORPHA:3385 |
Nocardiosis |
|
Lymphadenitis, Weight loss |
ORPHA:31204 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Weight loss, Normocytic anemia, Papilledema, Normochromic anemia |
ORPHA:91500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased testicular size, Failure to thrive, Weight loss, Testicular adrenal rest tumor |
ORPHA:90794 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |