Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Inability to walk, Babinski sign,... |
ORPHA:314911 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Paraproteinemia, Fe... |
ORPHA:171442 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Optic atrophy, Feeding difficulties, Myopathy, Cardiomyopathy, Hypertonia, Ethylmalonic... |
ORPHA:26792 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Retinal de... |
OMIM:614322 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Di... |
OMIM:252011 |
Methylmalonic Acidemia With Homocystinuria |
|
Feeding difficulties, Gait disturbance, Lethargy, Failure to thrive, Retinopathy |
ORPHA:26 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Abnorm... |
OMIM:204200 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Long eye... |
OMIM:275400 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Depression, Macular degeneration, Myoclonus, Spastici... |
OMIM:256730 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Facial palsy, Frequent falls, Feeding difficulties in infancy, Rigidity, Dilated c... |
OMIM:161800 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture, D... |
OMIM:613710 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Vomit... |
OMIM:618228 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Lower limb spasticity, Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythm... |
ORPHA:320360 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Feeding difficulties, Myoclonus, Difficulty walking, Dystonia, Letharg... |
OMIM:617829 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes... |
ORPHA:3363 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Premature graying of h... |
OMIM:619903 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal lower limb amyotrophy, Macular degeneration, Distal upper limb amyotrophy, Distal lower li... |
OMIM:619764 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Protein avoidance, Decreased nerve conduction velocity, Poor coordination, Chorioretinal ... |
OMIM:238970 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Chore... |
ORPHA:209905 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Malabsorption, Abdominal distent... |
OMIM:613662 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... |
OMIM:619350 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Feeding difficulties, Choreoathetosis, Myoclonus... |
OMIM:617065 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Tetraplegia, Uraciluria, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Renal insufficiency, Anorexia, Abdominal pain, Optic atrophy, Feeding diffic... |
ORPHA:79312 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Urinary incontinence, Bowel incontin... |
OMIM:270700 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Re... |
OMIM:256731 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
Variegate Porphyria |
|
Constipation, Increased fecal protoporphyrin concentration, Vomiting, Paralysis |
OMIM:176200 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... |
ORPHA:272 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Hypospadias, Sudden cardiac death, C... |
OMIM:610198 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus, Retinal degeneration |
OMIM:204500 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus... |
ORPHA:216866 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper... |
ORPHA:34515 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Feeding difficulties, Abnormality of extrapyramidal motor functi... |
OMIM:618224 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogon... |
OMIM:615993 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Inability to walk, Congestive heart failure, Elbow flexion contractur... |
ORPHA:206546 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, I... |
OMIM:612937 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Anorexia |
ORPHA:79283 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Megacystis, Spast... |
OMIM:615112 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Spastic paraplegia, Optic atrophy, Renal hypoplasia, Tetraplegia, Dilated cardiomyopathy,... |
ORPHA:254913 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting, Ataxia |
ORPHA:622 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98853 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Ventricular septal defect, Situs inversus tot... |
OMIM:249270 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Tetralogy of Fallot, Dysmetria, Feeding difficulties, Aminoaci... |
OMIM:250620 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Abdominal distention, Chorea, Optic atrophy, Hype... |
ORPHA:79097 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Unsteady gait, Optic atrophy, Primary gonadal insufficiency, ... |
OMIM:603896 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventricular septal defect, High, nar... |
ORPHA:2515 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Babinski sign, Optic atrophy, Vomiting, Dysphagia, Lethargy, Failure to thrive,... |
OMIM:618226 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Rod-cone dystrophy, Feeding difficulties, Increased circul... |
ORPHA:79320 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Adrenomyodystrophy |
|
Megacystis, Primary adrenal insufficiency, Myopathy, Abnormality of the urinary system, Abnormal ... |
ORPHA:977 |
Oculorenocerebellar Syndrome |
|
Spastic diplegia, Choreoathetosis, Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Abdominal distention, Obesity, Depression, Constipation |
OMIM:103200 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand muscle weakness, Ragged... |
ORPHA:254886 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Retinal degener... |
OMIM:520000 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Retinal dystrophy, Anorexia, Cardiac arrest, Conges... |
ORPHA:49827 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Mucolipidosis Iv |
|
Achlorhydria, Babinski sign, Optic atrophy, Spastic tetraplegia, Hypergastrinemia, Dystonia, Reti... |
OMIM:252650 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Di... |
ORPHA:324588 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Renal insufficiency, Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Ca... |
ORPHA:27 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Dysmetria, Gait... |
OMIM:607459 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Gastroesop... |
ORPHA:254892 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Opisthotonus, Hypertonia, Hypertrophic ... |
OMIM:616896 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Renal tu... |
ORPHA:289916 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Diarrhea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Constipation, Bradyc... |
OMIM:601419 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Hypertrophic cardiomyopathy, Spasticity, Ret... |
OMIM:300438 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine moto... |
ORPHA:79264 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... |
OMIM:605285 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... |
OMIM:607483 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy... |
OMIM:616827 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... |
ORPHA:1876 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Poor appetite, Gastrointestinal... |
ORPHA:298 |
Hsd10 Disease, Infantile Type |
|
Dystonia, Spastic tetraparesis, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Gastroint... |
ORPHA:391428 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... |
ORPHA:746 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Ca... |
ORPHA:603 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Involuntary movements, Congestive heart failure, Chorea, Dilated cardio... |
OMIM:606703 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... |
OMIM:155310 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Vomiting, Myoclonus, ... |
OMIM:614299 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Increased adipose tissue, Congestive heart failure, Ragged-red muscle fibers, Slurred spe... |
ORPHA:1349 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abdominal diste... |
ORPHA:2604 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Feeding difficulties, Decreased liver function, Dystonia, Lethargy, Hypertrophic cardiomy... |
OMIM:246900 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Obesity, Renal cyst, Hypogonadism, Rod-cone dystrophy, Retinal degener... |
OMIM:615982 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Freq... |
OMIM:300718 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased b... |
OMIM:618097 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ketonuria, Ataxia, Tricuspid regurgitation, Left ventricular systolic dysfunct... |
OMIM:619167 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Classic Galactosemia |
|
Speech apraxia, Decreased serum insulin-like growth factor 1, Incoordination, Ataxia, Postural tr... |
ORPHA:79239 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Abnormal EKG, Diabetes mellitus, Optic atrophy, Abnormal pyramidal sign, P... |
ORPHA:1177 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti... |
ORPHA:309271 |
Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond... |
ORPHA:309256 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Omphalocele, Multicystic kidney dysplasia, Hydroureter, Abnormality of the g... |
ORPHA:2241 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Tre... |
OMIM:128100 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Letharg... |
OMIM:500007 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Failure to thrive,... |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Feeding difficulties in infancy, Nephrogenic diabetes insipidus, Megacystis, Constipati... |
OMIM:125800 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria, Abnormal chorioretinal morphology, Mala... |
ORPHA:225 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Feed... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Arrhythmia, Hypertrophic ... |
OMIM:616198 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Vomiting, Paralysis |
OMIM:612740 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,... |
ORPHA:225147 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Ataxia,... |
ORPHA:2394 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration |
OMIM:617173 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hand tremor, Head tremor, Hypothyroidism, Alopecia, Retinal atrophy, Distal amyotrophy, Gait dist... |
ORPHA:412057 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Difficulty walking, Paralysis |
OMIM:608634 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Abnormal pyramidal sign, Feeding d... |
ORPHA:329336 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Elbow contracture, Narrow palate, Feeding difficu... |
OMIM:611523 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopath... |
OMIM:607155 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Feeding difficulties, Ankle clonus, Gastroesophageal reflux,... |
ORPHA:247525 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy, 3-Methylglutaconic aciduria, G... |
OMIM:618120 |
Early Myoclonic Encephalopathy |
|
Feeding difficulties, Myoclonus, Dysphagia, Lethargy, Poor suck |
ORPHA:1935 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Truncal obesity, Micropenis |
ORPHA:75858 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... |
ORPHA:732 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, High palate, Type 1... |
ORPHA:171439 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Lethargy, Hypertrophic cardiomyopath... |
OMIM:613561 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal pyramidal sign, Choreoa... |
ORPHA:765 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Feeding difficulties, Syncope, Type I d... |
ORPHA:276575 |
Dpm3-Cdg |
|
Babinski sign, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... |
ORPHA:263494 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Feeding difficulties... |
ORPHA:276580 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Celiac... |
OMIM:618985 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive, Di... |
ORPHA:178029 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... |
ORPHA:157941 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerativ... |
OMIM:607598 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Chorea, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Dilated cardiomyopathy, Rod-co... |
ORPHA:255210 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abdominal pain, Abdomi... |
ORPHA:100924 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... |
OMIM:233910 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Choroidal neovascularization, Drusen, Decreased nerve conduction ve... |
OMIM:608895 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Hypoplasia of penis, Ataxia, Muscular ventricular s... |
ORPHA:66634 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Ataxia, C... |
ORPHA:42 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Urinary incontinence, Feeding difficulties in infancy, Tremor, Abnormal py... |
OMIM:234200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulat... |
OMIM:615838 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... |
ORPHA:103907 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Depression, Vomiting, Lethargy, Nausea |
ORPHA:238624 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Inability to walk, Rigidity, Athetosis,... |
OMIM:257200 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Prolonged QT interval, Dicarboxylic aciduria, Feeding difficulties in infa... |
ORPHA:71212 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akines... |
ORPHA:48818 |
Nephronophthisis 15 |
|
Retinal degeneration, Obesity, Nephronophthisis |
OMIM:614845 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physio... |
OMIM:266500 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Dysphagia |
OMIM:300857 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy, Decreased circ... |
OMIM:618573 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Ragged-red muscle fibers, Dilated cardio... |
ORPHA:352447 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Knee flexion contracture, Abnormal left... |
ORPHA:3208 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Steppage gait, Muscle fiber necro... |
OMIM:258450 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... |
ORPHA:157850 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, ... |
ORPHA:276608 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-on... |
ORPHA:324575 |
Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:95717 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of ... |
OMIM:604290 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Left atrial enlargem... |
OMIM:619424 |
Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Chorea, Dysmetria, Gait ataxia, U... |
ORPHA:95 |
Acute Intermittent Porphyria |
|
Urinary incontinence, Tremor, Respiratory paralysis, Proximal muscle weakness in upper limbs, Abd... |
ORPHA:79276 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Babinski sign, O... |
ORPHA:309263 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Abdominal distention, Hepatocellular carcinoma, Hypertrop... |
ORPHA:369 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Flexion contracture, Feeding difficulties, Nephrocalcinosis, Te... |
OMIM:617105 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Chronic diarrhea, Dilated... |
OMIM:615084 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Feeding difficulties, Syncope, Palpitations, Diffuse panc... |
ORPHA:276556 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Abdominal pain, Tremor, Diarrhea,... |
ORPHA:99745 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Limb ataxia, Dysmetria, Leg muscle stiffness, Progressive cerebellar ataxia, Prog... |
ORPHA:284289 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul... |
ORPHA:226313 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Fatal liver failure in infancy, Lethargy, Cardiomyopathy |
ORPHA:254857 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Diarrhea, Myopathy, Cardiomyopathy... |
OMIM:212140 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... |
OMIM:617282 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, ... |
ORPHA:96 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... |
ORPHA:95427 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... |
OMIM:310200 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paraly... |
ORPHA:140989 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic aciduria, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure t... |
OMIM:236270 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... |
OMIM:614895 |
Al Amyloidosis |
|
Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of the kidney, Nephroti... |
ORPHA:85443 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Paraplegia, Feeding difficulties, V... |
ORPHA:927 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Peripheral axonal neuropathy, Spastic paraplegia, Ataxia |
OMIM:619688 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Bowel ... |
ORPHA:329478 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyram... |
ORPHA:2131 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Dihydropyrimidinase Deficiency |
|
Feeding difficulties in infancy, Abnormal pyramidal sign, Uraciluria, Extrapyramidal dyskinesia, ... |
OMIM:222748 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Feeding difficulties, Facia... |
OMIM:616287 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Diabetes mellitus, Ataxia, Optic neuropathy, Feeding difficulties, Proximal tu... |
ORPHA:2609 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... |
OMIM:143880 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, ... |
OMIM:602390 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardi... |
OMIM:618815 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Lipoatrophy |
ORPHA:154 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:101097 |
Athyreosis |
|
Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy... |
ORPHA:95713 |
Bardet-Biedl Syndrome 17 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Dext... |
OMIM:615994 |
Retinitis Pigmentosa 81 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Carvajal Syndrome |
|
Woolly hair, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
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Ataxia, Vomiting, Myoclonus, Lethargy, Spasticity |
OMIM:618225 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Ophthalmoplegia, External, And Myopia |
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Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Oculopharyngodistal Myopathy |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Cardiomyopathy, Dilated, 1Jj |
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Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Cardiomyopathy, Dilated, 1Hh |
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Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Sensorineural Deafness With Dilated Cardiomyopathy |
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Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1B |
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Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Ataxia, Flexion contracture, Abnormal pyramidal sign, Feeding difficulties, Myopathy, Cardiomyopa... |
OMIM:201470 |
Achromatopsia |
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Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Spinocerebellar Ataxia Type 26 |
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Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Pulmonary embolism, Lethargy, Retinal degeneration, Glomerulopathy, Ketonuria, Ataxia, Hemolytic-... |
ORPHA:79282 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Thyroid Hemiagenesis |
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Thyroid agenesis, Abdominal distention, Macroglossia, Constipation, Umbilical hernia |
ORPHA:95719 |
Microphthalmia, Isolated 5 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Limb dystonia, Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties... |
OMIM:608643 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Anuria, Ileal atresia, Abdominal distention, Megacystis, Pyelonephritis, Bidirectional shunt, Ele... |
OMIM:619351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Skeletal muscle atrophy, Retinal detachment, Exaggerated startle response, Flexion contracture, O... |
OMIM:253800 |
Insulinoma |
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Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
Cone-Rod Dystrophy 5 |
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Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Retinitis Pigmentosa 68 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter... |
OMIM:604292 |
Wolfram Syndrome |
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Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysur... |
ORPHA:3463 |
Toxin-Mediated Infectious Botulism |
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Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia |
ORPHA:230800 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... |
ORPHA:79244 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Myopathy, Fat malabsorption, Vomiting, Steatorrhea, EMG: myopathi... |
ORPHA:71 |
Cone-Rod Dystrophy 24 |
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Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Lower limb spasticity, Ataxia, Homocystinuria, Feeding difficulties in infancy, Optic atrophy, He... |
ORPHA:395 |
Propionic Acidemia |
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Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in infancy, Cerebe... |
OMIM:606054 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Hyperglycinuria, Lactica... |
OMIM:605711 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
Vici Syndrome |
|
Albinism, Abnormal thymus morphology, High palate, Atrial septal defect, Decreased circulating Ig... |
OMIM:242840 |
Finnish Upper Limb-Onset Distal Myopathy |
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Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopathy, ... |
ORPHA:399086 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials... |
OMIM:619260 |
Familial Thyroid Dyshormonogenesis |
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Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... |
ORPHA:95716 |
Nephronophthisis 14 |
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Situs inversus totalis, Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Cardiomyopathy, Dilated, 1Z |
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Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
X-Linked Acrogigantism |
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Increased body mass index, Abnormal optic chiasm morphology, Decreased thyroid-stimulating hormon... |
ORPHA:300373 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Oculomotor apraxia |
ORPHA:370022 |
Glycine Encephalopathy 1 |
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Lethargy, Hyperglycinuria, Myoclonus |
OMIM:605899 |
Malonyl-Coa Decarboxylase Deficiency |
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Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
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Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop... |
ORPHA:101076 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Inabilit... |
ORPHA:2822 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dicarboxylic aciduria, Vomiting, Pulmonic stenosis |
ORPHA:79159 |
Lead Poisoning |
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Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased circulating ... |
ORPHA:330015 |
Cap Polyposis |
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Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Horner Syndrome, Congenital |
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Paralysis |
OMIM:143000 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Supraventric... |
ORPHA:90064 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Neurogenic bladder, Intestinal pseudo-obstruction, Involuntary movements, Abnormal pyramidal sign... |
OMIM:619780 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Anorexia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Lethargy, Hy... |
OMIM:619386 |
Heart-Hand Syndrome, Slovenian Type |
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Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Retinal atrophy, Ataxia, Rigidity, Spasticity, Rod-cone dystrophy, Sensory axonal neuropathy |
OMIM:610127 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Dilated cardiomyopathy... |
OMIM:618805 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Tachycardia, Generalized dystonia, Ataxia, Diarrhea, Chorea, Dilated cardiomyopathy, Spastic tetr... |
OMIM:618321 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Methylmalonic aciduria, Feeding difficulties, Gastroesophageal reflux, Atrial se... |
OMIM:614857 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... |
OMIM:300048 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Volvulus Of Midgut |
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Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Retinal dystrophy, Facial palsy, Inability to walk, Flexion contracture, Abnormal left ventricula... |
OMIM:613155 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Hypogona... |
ORPHA:79230 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Anal fissure, Esophageal strictu... |
ORPHA:89842 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, We... |
OMIM:212750 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Optic neuropathy, Feeding difficulties in infancy, Tremor, Patent foramen ovale, Rhabdomy... |
OMIM:610505 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Spas... |
OMIM:270200 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Intrinsic hand muscle atrophy, Dysphagia, Abnormal posturing, Dystonia, Spasticity |
OMIM:304700 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... |
OMIM:606824 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased... |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Retinal detachment, Small for gestational age, Hypospadias, Pate... |
OMIM:607143 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Vomiting, Lethargy, Diabetes insipidus |
ORPHA:30925 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Failure to thrive, Clonus, Protein avoidance, Oroticaciduria, Poor coordination, ... |
ORPHA:415 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Sinus tachycardia, Cerebral hemorrhage,... |
ORPHA:94080 |
Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Spasticity, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... |
OMIM:619431 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Impaired T cell function, Poor appetite, Tremor, Diarrhea, Alopecia of scalp, Hypogonadis... |
OMIM:201100 |
Abetalipoproteinemia |
|
Ataxia, Fat malabsorption, Retinopathy, Peripheral demyelination, Retinal degeneration |
OMIM:200100 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Perimembranous ventricular septal defect, Vomiting, Decreased liv... |
OMIM:608104 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... |
OMIM:209900 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Central Neurocytoma |
|
Nausea and vomiting, Ataxia, Babinski sign, Depression, Lethargy |
ORPHA:73256 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Small for gestational age, V... |
ORPHA:26793 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Limb-girdle muscle weakness, Spas... |
ORPHA:1215 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endo... |
OMIM:602541 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Hypospadias, ... |
OMIM:252010 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Unilateral renal agenesis, Ectopic ... |
OMIM:616541 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Rectal p... |
ORPHA:904 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Large for gestational age, Tremor, Diarrhea, Hyperinsulinemia, Increase... |
ORPHA:263455 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Decreased muscle mass, Decreased serum testosterone concentration, Hypogonado... |
ORPHA:465508 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Renal tubular acidosis, Ar... |
ORPHA:156 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Feeding difficulties in infancy, Renal cyst, High palate, Atrial septal defect, Lethargy, Tricusp... |
OMIM:614866 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Limb ataxia, Gait ataxia, Ur... |
ORPHA:98768 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno... |
ORPHA:367 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr... |
ORPHA:1830 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Lethargy, Renal insufficiency, Failure to thrive |
ORPHA:28 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Co... |
ORPHA:581 |
Wolman Disease |
|
Nausea and vomiting, Adrenal calcification, Cachexia, Abdominal distention, Malnutrition, Esophag... |
ORPHA:75233 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Barth Syndrome |
|
Failure to thrive, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cong... |
OMIM:302060 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Diarrhea, Rhabdomyolysis, Neuromuscular... |
ORPHA:449285 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardio... |
OMIM:164310 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Feeding difficulties in infancy, Lethargy, Small for gestational age |
OMIM:610498 |
Myasthenic Syndrome, Congenital, 16 |
|
High palate, Periodic paralysis |
OMIM:614198 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Myofiber disarray, Feeding difficulties, Myopathy, High palate, Limb dystonia, In... |
OMIM:604377 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98863 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, G... |
ORPHA:70595 |
Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Alopecia, Ataxia, Anorexia, Weight loss, Organic aciduria, Lethargy |
ORPHA:79242 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone ... |
OMIM:615986 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Abnormal pyramidal sign, ... |
ORPHA:816 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Feeding difficulties in infancy, Congeni... |
ORPHA:191 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Feeding d... |
OMIM:617710 |
Porphyria, Acute Intermittent |
|
Tachycardia, Urinary incontinence, Dysuria, Abdominal pain, Paralysis, Hepatocellular carcinoma, ... |
OMIM:176000 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretor... |
OMIM:270420 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Opto-chiasmatic atrophy, Op... |
OMIM:620089 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Chronic kidney disease, Obesity, Nephronophthisis, Oculomotor apraxia,... |
OMIM:615630 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Constipation, Umbilical hernia, Hypothyroidism, Lethargy, Goiter |
OMIM:274400 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Babinski sign, Limb... |
OMIM:619259 |
Benign Samaritan Congenital Myopathy |
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Lethargy, Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skelet... |
ORPHA:324581 |
Susac Syndrome |
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Nausea and vomiting, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction |
ORPHA:838 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Gastroesophage... |
ORPHA:90324 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... |
ORPHA:2388 |
Danon Disease |
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Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Mcleod Syndrome |
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Atrial fibrillation, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, Depression, Myopathy, Cardio... |
OMIM:300842 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Abdominal distention, Renal cyst |
OMIM:174050 |
Magel2-Related Prader-Willi-Like Syndrome |
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Flexion contracture, Xerostomia, Increased body weight, Chorioretinal hypopigmentation, Gastroeso... |
ORPHA:398069 |
Wolfram Syndrome 1 |
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Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipidus, Tremor, Optic atr... |
OMIM:222300 |
Barth Syndrome |
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Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Andersen-Tawil Syndrome |
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Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
Cone-Rod Dystrophy, X-Linked, 1 |
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Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Attrv30M Amyloidosis |
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Vitreous floaters, Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, C... |
ORPHA:85447 |
Hyperlysinuria With Hyperammonemia |
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Dibasicaminoaciduria, Lethargy, Hyperlysinuria, Malabsorption |
OMIM:238750 |
Ogden Syndrome |
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Inguinal hernia, Torticollis, Ventricular septal defect, High, narrow palate, Fine hair, Hyperton... |
ORPHA:276432 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Myopathy, Renal tubular ... |
OMIM:614922 |
Kufor-Rakeb Syndrome |
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Urinary incontinence, Abnormal pyramidal sign, Hypertonia, Lethargy, Eyelid apraxia, Parkinsonism... |
ORPHA:306674 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
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Hemiparesis, Lethargy |
OMIM:617900 |
Multiple Endocrine Neoplasia Type 1 |
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Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Renal artery aneurysm, Ataxia, Portal hypertension, Abdominal pain, Raynaud phenomenon, Dilated c... |
OMIM:615688 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Curly hair, Lactose intolerance, Hypospadias, Diastasis recti, Large for gestational age, Gait di... |
ORPHA:457485 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac... |
OMIM:201475 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Waddling gait, Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle wea... |
ORPHA:86812 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Inguinal hernia, Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distenti... |
ORPHA:51890 |
Biotinidase Deficiency |
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Alopecia, Ataxia, Feeding difficulties in infancy, Diarrhea, Optic atrophy, Organic aciduria, Vom... |
OMIM:253260 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... |
OMIM:608836 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Lethargy |
OMIM:600649 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Prematur... |
ORPHA:398079 |
X-Linked Adrenoleukodystrophy |
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Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Incr... |
ORPHA:43 |
Hereditary Neuropathy With Liability To Pressure Palsies |
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Vocal cord paralysis |
ORPHA:640 |
Retinitis Pigmentosa 27 |
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Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
N-Acetylglutamate Synthase Deficiency |
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Lethargy, Failure to thrive, Vomiting |
OMIM:237310 |
Donohue Syndrome |
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Skeletal muscle atrophy, Precocious puberty, Abdominal |