Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Angelman syndrome (Type 1) |
|
EEG abnormality, Truncal ataxia |
DECIPHER:4 |
Angelman syndrome (Type 2) |
|
EEG abnormality, Truncal ataxia |
DECIPHER:54 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Posterior Column Ataxia |
|
Impaired proprioception, Impaired vibratory sensation, Ataxia |
OMIM:176250 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Megalencephaly With Dysmyelination |
|
EEG with photoparoxysmal response, Ataxia, Spasticity |
OMIM:249240 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, EEG abnormality, Spasticity |
OMIM:619228 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Ab... |
ORPHA:101007 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Macroorchidism, Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials |
OMIM:618876 |
Sandhoff Disease |
|
Kyphosis, Hepatomegaly, Congestive heart failure, Splenomegaly |
ORPHA:796 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Myoclonus, Dysdiadochok... |
OMIM:256731 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Interictal e... |
OMIM:254800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... |
OMIM:601098 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal vertebral... |
ORPHA:93476 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy,... |
OMIM:618234 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... |
OMIM:235200 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of the vertebral ... |
ORPHA:1354 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... |
OMIM:602390 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anem... |
OMIM:613313 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Dilated cardiomyopathy |
OMIM:300718 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Micropenis, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, Hypoplasia of t... |
OMIM:301900 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal form of the vertebral bodies, Splenomegaly |
ORPHA:1802 |
Episodic Ataxia, Type 5 |
|
Ataxia, EEG with spike-wave complexes, Myoclonus, Truncal ataxia, EEG with generalized spikes, Ep... |
OMIM:613855 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Cryptorchidism, Short neck |
OMIM:618393 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice |
OMIM:618512 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Tricuspid regurgitation, Macroorchidism, Mitral regurgitat... |
ORPHA:324410 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
Attrv122I Amyloidosis |
|
Angina pectoris, Spinal canal stenosis, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve sten... |
ORPHA:85451 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Cardiom... |
OMIM:252920 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Scoliosis, Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility, Platyspondyly, Scoliosis, Splenomegaly |
OMIM:602271 |
Null Syndrome |
|
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... |
ORPHA:280234 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia |
OMIM:618453 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperlordo... |
ORPHA:3085 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Vacuolated lym... |
OMIM:230500 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular... |
OMIM:619123 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, ... |
OMIM:617053 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy |
OMIM:615084 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Kyphosis, Male pseudohermaphroditis... |
ORPHA:2075 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Premature pubarch... |
OMIM:612847 |
Widow'S Peak Syndrome |
|
Kyphosis, Cryptorchidism, Shawl scrotum |
OMIM:314570 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum te... |
ORPHA:465508 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Splenomegaly |
OMIM:176920 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Increased serum serotonin |
ORPHA:85288 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Anemia, Scoliosis, Delayed puberty |
ORPHA:2598 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hepatomegaly, Cryptorchidism, Scoliosis, Hypogonadism, Telangiectasia, Hepatic steatosi... |
OMIM:615381 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Cryptorchidism, Short neck, Scoliosis |
ORPHA:178148 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Atrial septal defect, Scoliosis, Cryptorchidism, Abnormal heart morphology |
ORPHA:352490 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Cryptorchidism, Short neck, Scoliosis |
OMIM:611890 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Gaucher Disease Type 1 |
|
Kyphosis, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary tract obstruction, Pulmonary... |
ORPHA:77259 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Scoliosis |
OMIM:617190 |
Transaldolase Deficiency |
|
Telangiectasia, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegaly, Cirrhos... |
OMIM:606003 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Hypospadias, Short ne... |
ORPHA:2311 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... |
OMIM:601186 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Ventricular septal defect, Overriding a... |
OMIM:617022 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:848 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Short neck, Arrhythm... |
ORPHA:3191 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hepatomegaly, Splenomegaly, Biconvex vertebral bodies, Eosinophili... |
OMIM:616651 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, B... |
OMIM:618652 |
Mend Syndrome |
|
Kyphosis, Cryptorchidism, Aortic valve stenosis |
OMIM:300960 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:230800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... |
OMIM:609813 |
Diabetic Embryopathy |
|
Vertebral segmentation defect, Micropenis, Tetralogy of Fallot, Abnormality of the pancreas, Vent... |
ORPHA:1926 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Kyphosis, Hepatomegaly, Hepatosplenomegaly, Short neck, Ascit... |
OMIM:608776 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2617 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Hepatomegaly, Narrow vertebral interpedicular distance, Splenomegaly, Short... |
OMIM:602557 |
Sialidosis Type 2 |
|
Kyphosis, Ascites, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclerotic vertebral endplates, A... |
OMIM:611490 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... |
ORPHA:3092 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Cardiac myxoma, Cholestasis, Heart murmur, Pulmo... |
ORPHA:615 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... |
ORPHA:860 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Arrhythmia, Neuropathic spinal arthrop... |
ORPHA:352447 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Asymmetric septal hypertrophy |
OMIM:252900 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Fucosidosis |
|
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Anterior beaking of lum... |
OMIM:230000 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal thoracic spine morphology, Metrorrhagia, Abnormal spleen mor... |
ORPHA:464329 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Cryptorchidism, Scoliosis, Kyphoscoliosis |
OMIM:618484 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... |
ORPHA:1797 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Splenomegaly, Short neck, Ovoid vertebral bodies, Abnormal heart valve morphology |
ORPHA:583 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy |
OMIM:618237 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Bone-marrow foam cells, Cardiomyopat... |
OMIM:256550 |
Mcdonough Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2471 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Platyspondyly, Ovoid... |
OMIM:239850 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty |
OMIM:180870 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary nipple, Scoliosis, Spina bifida occulta, Hypoplastic labia minora, Abnorm... |
ORPHA:64755 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vert... |
OMIM:252930 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Hepatomegaly, Congestive heart failure, Myofi... |
OMIM:115197 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Aortic valve stenosis, Short neck, Scoliosis, Hyperlordosis, Aortic regurgitation |
OMIM:252605 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Alpha-Mannosidosis |
|
Kyphosis, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Short neck, Scoliosis |
ORPHA:61 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Hypospadias, Short neck, Hyperlordosis, Fused cervica... |
ORPHA:2522 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... |
ORPHA:101 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis |
OMIM:230650 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... |
OMIM:618280 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites |
ORPHA:1046 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice |
OMIM:121300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Platyspond... |
OMIM:618641 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Impotence, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Mogs-Cdg |
|
Hydrocele testis, Thoracic scoliosis, Hepatomegaly, Atrial septal defect, External genital hypopl... |
ORPHA:79330 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Premature ovarian insufficiency, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal hemorrhage, Ne... |
ORPHA:79301 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... |
ORPHA:3109 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Mitral regurgitation, Scoliosis, Ventricular hypertrophy, Hypertrophic cardiomyopathy, ... |
OMIM:300280 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Aortic valve stenosis, Atrial sept... |
ORPHA:3097 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis, Macroorchidism |
OMIM:300602 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Cryptorchidism, Scoliosis |
OMIM:619797 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Scoliosis, Hypothyroidism, Thoracic kyphosis, Lacunar stroke, Cryptor... |
OMIM:618440 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Precocious puberty, Atrial septal defect, Mitral regurgitation, Hypospadias, Short neck... |
ORPHA:254346 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Scoliosis, Tetralogy of Fallot, Fused cervical vertebrae, Apl... |
ORPHA:3320 |
Primary Lipodystrophy |
|
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhag... |
ORPHA:90970 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Abnormality of central somatosensor... |
OMIM:277460 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Hy... |
ORPHA:3130 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial s... |
ORPHA:210122 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Platyspon... |
OMIM:253220 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Abnormal cardiac septum morphology, Scoliosis, Hypospadias |
OMIM:616449 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
Fucosidosis |
|
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hyp... |
ORPHA:349 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cell... |
OMIM:603903 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... |
ORPHA:2414 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented m... |
OMIM:610475 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Atrial septal defect, Decreased response to growth hormone stimulati... |
OMIM:602782 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Short nec... |
ORPHA:1655 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Primary amenorrhea, Oligomenor... |
ORPHA:79083 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... |
OMIM:271500 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Scoliosis, Macroorchidism |
OMIM:300431 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple |
OMIM:615761 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Micropenis, Hypospadias, Decreased testicular size, Hypogonadism, Delayed puberty, Cryp... |
OMIM:300354 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis |
OMIM:618291 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Cirrhosis, Left ventricular diastolic dysfunction, Third ... |
ORPHA:57777 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
OMIM:620010 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Dysplastic sacrum, Short neck, Severe platyspondyly, Hypertension, Pulmonary arterial hypertensio... |
OMIM:613320 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Short neck, Platyspondyly, Cardiomegaly, Ventricular septal defect, Hype... |
OMIM:616897 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... |
OMIM:212140 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Hypoplasia of penis, Short neck, Spina bifida occulta, Hypogonadism, Small scrotum |
ORPHA:2983 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Cold Agglutinin Disease |
|
Hepatomegaly, Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
3C Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Aortic valve stenosis, Atrial septal defect, Hypoplas... |
ORPHA:7 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Hypoplasia of penis, Short neck, Hypogonadism, Cryptorchidism |
ORPHA:3409 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Emanuel Syndrome |
|
Kyphosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Scoliosis, ... |
OMIM:609029 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... |
ORPHA:251066 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Alstrom Syndrome |
|
Kyphosis, Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:203800 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Prolonged Q... |
OMIM:601005 |
Gm1 Gangliosidosis |
|
Kyphosis, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal form of the verteb... |
ORPHA:354 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Aplastic anemia, Arrhythmia, Hem... |
ORPHA:398124 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Increased circulating gonadotropin level, Kyphosis, Infertility, Lumbar hyperlordosis, Impotence,... |
ORPHA:2232 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Scoliosi... |
OMIM:253000 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Hurler-Scheie Syndrome |
|
Kyphosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Scoliosis, Aortic regurgitation, Pulm... |
OMIM:607015 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Irregular menstrua... |
ORPHA:370 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Bone marrow hypocellularity, Anemia, Th... |
OMIM:619151 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cryptorchidism, Hypoplastic cervical ... |
ORPHA:628 |
Trisomy 13 |
|
Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect, Abnormal morphology of fema... |
ORPHA:3378 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hypogonadism, First degr... |
OMIM:160900 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Splenomegaly |
ORPHA:812 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Hypoplasia of penis, Bifid scr... |
ORPHA:887 |
Amyloidosis, Familial Visceral |
|
Hypertension, Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Decreased response to growth hormone stimulation test, Hypospadias, Scoliosis, Cryptorc... |
ORPHA:94065 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Anem... |
OMIM:618886 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Diabetes mellitus, ... |
ORPHA:2348 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Supernumerary vertebrae, Hemivertebrae, Block verteb... |
OMIM:271520 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Ventricular tachycardia, ... |
OMIM:600649 |
Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Sea-blue histiocytosis, Hypoplastic vertebral bodies, Hepatomegaly, ... |
OMIM:230600 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Abnormality of the vertebral column, Enlarged ki... |
OMIM:314390 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Pelger-Huet Anomaly |
|
Kyphosis, Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutro... |
OMIM:169400 |
Metatropic Dysplasia |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal intervertebral disk morpholo... |
ORPHA:2635 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Aortic valve stenosis, Hepatomegaly, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid ver... |
OMIM:253010 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... |
OMIM:222300 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Holt-Oram Syndrome |
|
Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atriov... |
ORPHA:392 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... |
OMIM:612526 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy |
ORPHA:37748 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Ascites, Cardiomegaly, Pericardial c... |
OMIM:253250 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circula... |
OMIM:300942 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Double outlet right ventricle, Kyphosis, Atrial septal defect, Decreased resp... |
OMIM:618223 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia... |
ORPHA:108 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... |
OMIM:616589 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies, Anemia |
ORPHA:3344 |
Gracile Bone Dysplasia |
|
Ascites, Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis |
OMIM:234250 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Seckel Syndrome 7 |
|
Lumbar scoliosis, Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar hemorrha... |
ORPHA:99931 |
Noonan Syndrome 14 |
|
Kyphosis, Lymphopenia, Pulmonic stenosis, Short neck, Mitral valve prolapse, Aortic regurgitation... |
OMIM:619745 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Schaaf-Yang Syndrome |
|
Kyphosis, Micropenis, Scoliosis, Hypogonadism, Cryptorchidism |
OMIM:615547 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis, Kyphosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3098 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis, Premature ovarian insufficiency |
OMIM:618124 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Type I diabetes mell... |
ORPHA:290 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:79312 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Abnormal left ventricular function, Scoliosis, Hyperlordosis, Dilated cardiomyopathy, V... |
OMIM:607155 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice |
OMIM:619658 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Cantú Syndrome |
|
Platyspondyly, Short neck, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, Abnormal heart... |
ORPHA:1517 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Hurler Syndrome |
|
Kyphosis, Hepatomegaly, Enlarged tonsils, Splenomegaly, Mitral regurgitation, Hepatosplenomegaly,... |
OMIM:607014 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Kyphosis, Mitral regurgitation, Scoliosis, Ventricular septal ... |
ORPHA:261250 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Scoliosis, Spina bifida occulta, Rectovaginal fistula |
OMIM:617466 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Cryptorchidism, Short neck, Hypoplasia of penis |
ORPHA:3082 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools |
OMIM:619868 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Hemivertebrae, Ventricular septal defect, Abnormal vertebral mo... |
ORPHA:77298 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... |
OMIM:615108 |
Cowden Syndrome 1 |
|
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... |
OMIM:158350 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Hepatomegaly, Scoliosis, Male hypogonadism, Cryptorchidism |
ORPHA:90322 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Varicocele,... |
OMIM:615109 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Abnormality of vertebral epiphysis morphology, Delayed puberty, Cryptorchidism |
ORPHA:3121 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Secundum atrial septal defect, Supernumerary nipple, Micropenis, Scoliosis, Cryptorchid... |
OMIM:619951 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Kennerknecht syndrome |
|
Short neck, Thoracolumbar scoliosis, Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Short neck, Ventricular septa... |
OMIM:235255 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... |
ORPHA:363705 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Srd5A3-Cdg |
|
Kyphosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Microcytic anemi... |
ORPHA:324737 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Pulmonic stenosis, Scoliosis, Situs inversus totalis, Mitral valve prolapse, Aortic reg... |
OMIM:609008 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Scoliosis, Cholestasis, Hematochezia, Di... |
OMIM:615895 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Achalasia, Lymphadenopathy, Cardiomyopathy, ... |
ORPHA:3386 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Right ventricular hypertrophy, Hyperlordosis, Reduced left ventricular ejection ... |
ORPHA:268 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Jaundice |
ORPHA:75234 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Infertility, Precocious puberty, Atrial septal defect, External genital hypoplasia, Sma... |
ORPHA:398069 |
Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... |
OMIM:156530 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology |
ORPHA:404440 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... |
ORPHA:1724 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventricula... |
ORPHA:2789 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Scoliosis, Type I diabetes mellitus |
ORPHA:1133 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... |
OMIM:609981 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Marden-Walker Syndrome |
|
Kyphosis, Micropenis, Hypospadias, Short neck, Scoliosis, Dextrocardia, Cryptorchidism |
OMIM:248700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Lateral Meningocele Syndrome |
|
Kyphosis, Bicuspid aortic valve, Short neck, Biconcave vertebral bodies, Scoliosis, Cryptorchidis... |
OMIM:130720 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus |
OMIM:601076 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Clitoral hypertrophy, Cryptorchidism, I... |
OMIM:614866 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Kyphosis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemo... |
OMIM:615512 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Ventricular ... |
OMIM:608149 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Lumbar hyperlordosis, Hepatomegaly, Splenomegaly, Thoracic kyphoscoli... |
OMIM:613385 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Cirrhosis, Abnormality of the menstrual c... |
ORPHA:905 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hemiverteb... |
OMIM:301040 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Scoliosis, Anterior beaking of lo... |
ORPHA:584 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Kyphosi... |
ORPHA:96169 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Short neck, Abnormal heart valve morpho... |
OMIM:309900 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Sialuria |
|
Hypoplastic nipples, Hepatomegaly, Scoliosis, Splenomegaly |
OMIM:269921 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie... |
ORPHA:231226 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Scoliosis |
OMIM:112350 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Mitral regurgitation, Single ventricle, Short neck, Ambiguous genitalia,... |
OMIM:619879 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Kyphosis, Ventricular escape rhythm, Back pain, Spinal rigidity, Sud... |
ORPHA:98855 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:606612 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Kyphosis, Kyphoscoliosis, Atrial septal defect, Ri... |
OMIM:300967 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Harrod Syndrome |
|
Kyphosis, Hypospadias, Cryptorchidism, Scoliosis |
ORPHA:2115 |
Arthrogryposis, Distal, Type 4 |
|
Lumbar scoliosis, Kyphosis, Scoliosis, Hypoplastic labia majora |
OMIM:609128 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis, Infertility |
OMIM:614409 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short n... |
ORPHA:247768 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|