Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Onion bulb formation, Peripheral demye... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Axonal regenera... |
OMIM:615185 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Onion bulb formation... |
OMIM:606483 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... |
OMIM:607791 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Reduction of oligodendroglia, Cerebral dysmyelination, Tremor, Inabilit... |
OMIM:312080 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:180800 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Sensory ataxia, Pa... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... |
OMIM:619742 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Dysesthesia, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Myelin outfold... |
OMIM:118200 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,... |
OMIM:614322 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Hypoesthesia, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impairment, Onion bu... |
OMIM:618279 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... |
ORPHA:101097 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Onion bulb formation, Impaired... |
OMIM:610100 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Optic... |
OMIM:236792 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Distal sensory impairment, Segmental peripheral demyelinatio... |
OMIM:311070 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... |
ORPHA:497764 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Hypoesthesia, Distal sensory impairment, ... |
OMIM:609311 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Null Syndrome |
|
Ataxia, Optic atrophy, CNS hypomyelination, Peripheral demyelination, Demyelinating peripheral ne... |
ORPHA:280234 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Peripheral demyelination |
OMIM:616684 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... |
ORPHA:99953 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Peripheral axo... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment |
OMIM:607736 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination, Distal sensory impairment |
OMIM:611228 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Distal sensory impairment |
ORPHA:99944 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Chorea, Axonal loss, Decreased body weight, Peripheral demyelination |
OMIM:617672 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Axonal loss, Gliosis |
OMIM:300857 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... |
ORPHA:401820 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Gliosis |
OMIM:213200 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation, Se... |
OMIM:618184 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal sensory impa... |
OMIM:604563 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Short stature, Chorea, Axonal degeneration, Peripheral hy... |
OMIM:604168 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Distal sen... |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment |
OMIM:601382 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoc... |
OMIM:256731 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, Focal-onset seizur... |
OMIM:614559 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Huntington Disease |
|
Chorea, Gliosis, Gait ataxia |
OMIM:143100 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Peripheral ... |
OMIM:607250 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Distal sensory impairment,... |
OMIM:609260 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Axonal loss, Gliosis, Peripheral demyelination |
OMIM:221770 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Generalized-onset seizure, Akinesia... |
OMIM:618249 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w... |
OMIM:616756 |
Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Dysesthesia, Optic atrophy, Dysmetria, Gait ataxia, Leukodystrophy, Failure to thrive, Pe... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Distal... |
OMIM:615376 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Peripheral demyelination |
ORPHA:71211 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spastici... |
ORPHA:225154 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Periphe... |
OMIM:616733 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Optic atrophy, ... |
OMIM:609033 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Gliosis |
OMIM:614959 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... |
OMIM:617872 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria, Rickets, Glycosuria |
OMIM:615605 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Akinesia, Postural tremor, Lim... |
OMIM:607454 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination, Distal sensory impairment |
OMIM:616287 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Delayed myeli... |
ORPHA:79097 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Impaired dis... |
OMIM:600882 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair... |
OMIM:607684 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Gliosis |
OMIM:607136 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg... |
ORPHA:247234 |
Krabbe Disease |
|
CNS demyelination, Failure to thrive, Optic atrophy, Peripheral demyelination |
OMIM:245200 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... |
ORPHA:221091 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Somatic sensory dysfunction, Gliosis |
OMIM:221820 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Intrauterine growth retardation, Delayed CNS myelination, Gliosis |
OMIM:615095 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Ataxia, Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, S... |
OMIM:618241 |
Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607831 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca... |
OMIM:615771 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Gliosis, CNS demyelination, Failure to thrive |
OMIM:256000 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... |
ORPHA:454887 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Mitral val... |
OMIM:612561 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination, Optic atrophy, Gliosis |
OMIM:603896 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... |
OMIM:604250 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis, Distal sensory impairment |
OMIM:604218 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Short stature, Gliosis, Abnormal myelination, Cerebral hypomyelination, Failure to thrive |
ORPHA:280210 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Inability to walk, Delayed mye... |
ORPHA:544469 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary mov... |
ORPHA:48818 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Tangier Disease |
|
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... |
OMIM:205400 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Cerebral dysmyelination |
OMIM:201550 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination |
ORPHA:101082 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Gliosis, Gait ataxia |
OMIM:618369 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Short stature, Chorea, Dysmetria, Gait ataxia, Peripheral demyelination |
ORPHA:397946 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation, Distal sensory impairment |
OMIM:614455 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Hemimegalencephaly |
|
Optic atrophy, Gliosis |
ORPHA:99802 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Seizure, Optic atrophy, Cerebellar hypoplasia, Abnormal myelination |
ORPHA:352682 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Imp... |
ORPHA:99948 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation, Distal sensory impairment |
OMIM:615284 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic para... |
OMIM:300894 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Diffuse demyelination of the cerebral white matter, Gliosis |
ORPHA:168486 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib... |
OMIM:208920 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... |
OMIM:612562 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired distal vibration sensati... |
OMIM:604360 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Cerebellar gliosis, Gliosis, Intrauterine growth retardation, ... |
ORPHA:79243 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gai... |
OMIM:610217 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... |
OMIM:270550 |
Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Osteoporosis, Hyperglycinuria, Hyperammonemia, Anemia, Cardiomyopathy... |
OMIM:606054 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Abolished vibration sense, Ataxia, Impair... |
OMIM:608703 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Aminoaciduria, Hypophosphatemia |
OMIM:616026 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Ataxia, Impaired tactile sensation, CNS demyelination, Acroparesthes... |
ORPHA:206448 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... |
OMIM:256600 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Gliosis |
OMIM:105550 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Astrocytosis |
ORPHA:204 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, F... |
OMIM:614498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation |
OMIM:614487 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Delayed myelination, Gliosis, CNS demyelination, Failure to thrive |
OMIM:214150 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Gliosis |
ORPHA:275872 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Truncal obesity, Gliosis |
OMIM:300957 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... |
OMIM:302800 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular septal defect, ... |
OMIM:608104 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Osteomalacia, Recurrent fractures, Rickets, Generalized aminoaciduria, Glycosuria, Hy... |
OMIM:613388 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp... |
OMIM:617744 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Ataxia, Peripheral demyelination, Short stature |
OMIM:272200 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty... |
OMIM:301078 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Metachromatic Leukodystrophy |
|
Chorea, Optic atrophy, Peripheral demyelination, Ataxia |
OMIM:250100 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Arthritis, Elevated circulating creatinine concentration, Synovitis |
ORPHA:567544 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m... |
ORPHA:811 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Flexion contracture, Facial diple... |
OMIM:218000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Seizure, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Abnormal myelination |
ORPHA:85179 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination |
ORPHA:401835 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Dis... |
OMIM:162400 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Gait disturbance, Myoclonu... |
OMIM:607822 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Limb ataxia, Progressive cerebellar ataxia, Gliosis, Trunca... |
OMIM:109150 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Distal sensory impairment, Growth... |
OMIM:609136 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:97349 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, General... |
ORPHA:2088 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Distal sensory impairment, ... |
OMIM:256850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:614116 |
Dpagt1-Cdg |
|
Epileptic spasm, Failure to thrive, Ataxia, Diffuse optic disc pallor, Akinesia, Tremor, Inabilit... |
ORPHA:86309 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Gliosis, Short stature |
ORPHA:457240 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, S... |
OMIM:271245 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Optic atrophy, Gliosis |
OMIM:277470 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... |
ORPHA:411602 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... |
ORPHA:93160 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Delayed myelination, Optic atrophy, Gai... |
ORPHA:543470 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Glycosuria, Hyp... |
OMIM:227810 |
Glutaric Acidemia I |
|
Choreoathetosis, Symmetrical progressive peripheral demyelination, Failure to thrive, Delayed mye... |
OMIM:231670 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Leukopenia, Hyperglycinemia... |
OMIM:251000 |
Propionic Acidemia |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Growth delay, Axonal loss, Gliosis, Peripheral demyelination |
OMIM:252160 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Demyelinating sensory neuropathy, Opti... |
ORPHA:101085 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... |
ORPHA:29073 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:608836 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Axonal loss, Gliosis, Peripheral demyelination |
OMIM:252150 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia |
ORPHA:289916 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... |
OMIM:617052 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Failure to thrive,... |
OMIM:619147 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... |
OMIM:300009 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Ataxia, Delayed peripheral myelination, Obesity |
ORPHA:464282 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Gliosis, CNS hypomyelination |
OMIM:616239 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Impaired vibratory sensation, Somatic se... |
ORPHA:466768 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... |
OMIM:127550 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Brady... |
OMIM:609454 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity, Astrocytosis, ... |
OMIM:601104 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... |
ORPHA:254930 |
Felty Syndrome |
|
Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis... |
ORPHA:47612 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur... |
ORPHA:240071 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated... |
ORPHA:79126 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:225790 |
Lethal Congenital Contracture Syndrome 2 |
|
Degenerative vitreoretinopathy, Akinesia |
OMIM:607598 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Elevated... |
ORPHA:36234 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cerebellar atrophy, Co... |
ORPHA:404454 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ... |
OMIM:264700 |
Lissencephaly, X-Linked, 2 |
|
Gliosis |
OMIM:300215 |
Congenital Myopathy 9A |
|
Tongue fasciculations, Akinesia, Obesity |
OMIM:618822 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Ataxia, Optic atrophy, CNS hypomyelination, Growth delay, Gliosis |
OMIM:617193 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia |
OMIM:607765 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... |
ORPHA:306682 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... |
ORPHA:289157 |
Mannosidosis, Alpha B, Lysosomal |
|
Delayed myelination, Limb ataxia, Gait ataxia, Growth delay, Gliosis |
OMIM:248500 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomoto... |
ORPHA:1020 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma... |
ORPHA:79303 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Type I diabetes m... |
OMIM:212750 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Cystinosis |
|
Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia, Type I diabetes mellitus |
ORPHA:213 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Optic atrophy, Growth delay, Intrauterine growt... |
ORPHA:79282 |
Leigh Syndrome |
|
Ataxia, Chorea, Optic atrophy, Choreoathetosis, Athetosis, Growth delay, Gliosis, Leukodystrophy,... |
ORPHA:506 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:298 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Kleefstra Syndrome Due To A Point Mutation |
|
Failure to thrive, Gliosis, Short stature, Large for gestational age |
ORPHA:261652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Gliosis |
OMIM:604377 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Gliosis, Short stature |
OMIM:619847 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemog... |
OMIM:260400 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... |
OMIM:613095 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Impaired pain sensatio... |
ORPHA:99949 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysdiadochokinesis, Optic atrophy, Peripheral demyelination, Dysmetria |
ORPHA:171629 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Right ventricular dilatation, B lymphocyto... |
OMIM:619705 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Fai... |
ORPHA:255210 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Cysta... |
OMIM:277380 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Cardiomyopathy, Normochromic anemia, Elevated circulating creatinine concentra... |
ORPHA:247691 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Neutropenia, Atrial septal defect, Joint contracture |
OMIM:618005 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo... |
OMIM:618885 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous ... |
ORPHA:249 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Gliosis, Parkinsonism |
OMIM:606688 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Basal ganglia gliosis, Gliosis |
OMIM:614946 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618839 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An... |
OMIM:618835 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Chorea, Ataxia, Gliosis, Gait ataxia |
OMIM:618321 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Dilated cardiomy... |
ORPHA:398124 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Thr... |
OMIM:613989 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentra... |
ORPHA:439232 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Astrocytosis, Abno... |
ORPHA:100070 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251110 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Dysmetria, Gliosis, Truncal ataxia, CNS demyelination, Failure... |
OMIM:220111 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Glycosuria |
OMIM:268315 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphat... |
ORPHA:3337 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination |
ORPHA:168563 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Pericarditis, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:99826 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Neutropenia |
OMIM:618253 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Delayed CNS myelination, Chorea, Delayed myelination, Dysmetria, Athetosis, G... |
OMIM:615273 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ataxia, Overweight, Delayed myelination, Neurofibroma, Delayed puberty, Obesity, Leukodystrophy, ... |
OMIM:619475 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Anemia, Arthritis, Hypocalcemia, Neutropeni... |
ORPHA:47 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Gliosis |
ORPHA:3240 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Congenital Myopathy 12 |
|
Small for gestational age, Akinesia |
OMIM:612540 |
Glycogen Storage Disease Ib |
|
Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia |
OMIM:232220 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Monosomy 18Q |
|
Astrocytoma, Abnormal retinal morphology, Poor coordination, Choreoathetosis, Seizure, Cerebellar... |
ORPHA:1600 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibr... |
ORPHA:562 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Diamond-Blackfan Anemia 11 |
|
Radioulnar synostosis, Bicuspid aortic valve, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Barth Syndrome |
|
Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Endocardial fibroelast... |
OMIM:302060 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury |
OMIM:201300 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination, Ataxia |
ORPHA:199343 |
Fetal Akinesia Deformation Sequence |
|
Akinesia, Dandy-Walker malformation |
ORPHA:994 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Hypercalcemia, Hy... |
ORPHA:199299 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Seizure, Cataplexy, Spasticity |
OMIM:257220 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... |
OMIM:619752 |
Familial Acute Necrotizing Encephalopathy |
|
Gliosis |
ORPHA:88619 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... |
ORPHA:18 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Agenesis of corpus callosum, Peripheral hypomyelination, Wrist flexion ... |
OMIM:618733 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiad... |
ORPHA:309854 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Aminoaciduria, Anemia, Neutropenia |
OMIM:614520 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Hypoglycemia, Rickets, Reduced bone min... |
OMIM:613658 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Increased mean corpuscular v... |
ORPHA:261250 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Gaucher Disease, Perinatal Lethal |
|
Seizure, Decreased body weight, Akinesia, Opisthotonus |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Short stature, Truncal obesity, Gliosis, Truncal ataxia |
OMIM:301072 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy |
OMIM:612780 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Progressive Supranuclear Palsy |
|
Gliosis |
ORPHA:683 |
Cockayne Syndrome B |
|
Failure to thrive, Severe short stature, Ataxia, Abnormal peripheral myelination, Small for gesta... |
OMIM:133540 |
Papillorenal Syndrome |
|
Optic disc coloboma, Gliosis, Short stature |
OMIM:120330 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Onion bulb formation, Optic neuropathy, Distal sensory impairment |
ORPHA:320375 |
Cockayne Syndrome |
|
Optic disc pallor, Peripheral axonal neuropathy, Somatic sensory dysfunction, Ataxia, Severe shor... |
ORPHA:191 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
ORPHA:26791 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A... |
ORPHA:330015 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Joint hypermobility |
OMIM:617101 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251100 |
Tay-Sachs Disease |
|
Optic atrophy, Gliosis, Dysmetria |
ORPHA:845 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive in infancy, Distal sens... |
ORPHA:477817 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect |
OMIM:619769 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Optic neuropathy, Axonal degeneration, Op... |
ORPHA:909 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropenia, Lymphopenia,... |
OMIM:242900 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Abnormal heart morphology, Elevated... |
ORPHA:79284 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Gliosis, Cerebral dysmyelination |
OMIM:261515 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Gliosis, Parkinsonism, Apraxia |
OMIM:607485 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Demyelinating peripheral neuropathy, Unste... |
ORPHA:90324 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Pgm3-Cdg |
|
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... |
ORPHA:443811 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Hypoalbuminemia, Neutropenia, At... |
OMIM:617303 |
Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Hypertonia, Akinesia, Hand tremor |
OMIM:618947 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join... |
OMIM:250250 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... |
ORPHA:411634 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
Cockayne Syndrome A |
|
Failure to thrive, Ataxia, Abnormal peripheral myelination, Short stature, Optic atrophy, Severe ... |
OMIM:216400 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia |
ORPHA:411629 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Neonatal hypoglycemia, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Cohen Syndrome |
|
Leukopenia, Neutropenia, Joint hypermobility, Mitral valve prolapse |
OMIM:216550 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Ataxia, Gliosis, Astrocytosis |
OMIM:203700 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... |
ORPHA:79259 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Seizure, Cataplexy, Spasticity |
OMIM:607625 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis |
OMIM:168601 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Erythroid hypoplas... |
OMIM:612541 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Ataxia, Short stature... |
OMIM:256810 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnes... |
ORPHA:37042 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... |
ORPHA:99867 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Ataxia, Short stature, Failure to thrive in infancy, CNS hypomyelinati... |
ORPHA:268261 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... |
ORPHA:508542 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Autosomal Agammaglobulinemia |
|
Arthritis, Osteomyelitis, Neutropenia |
ORPHA:33110 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Reduced bone minera... |
ORPHA:2909 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Delayed CNS myelination, Failure to thrive, Ataxia, Gliosis |
OMIM:124000 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegal... |
OMIM:276700 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Fused cervical vertebrae, Neutropenia, Atrial septal defect, Patent fo... |
OMIM:609053 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Flexion contracture, Leukopenia, Neutropenia, Neonatal hypoglycemia |
OMIM:616271 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Facial palsy, Obesity, Truncal obesity, Gliosis, Intrauterine growth retardation, ... |
OMIM:615873 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Seizure |
OMIM:605055 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu... |
ORPHA:167 |
Eisenmenger Syndrome |
|
Brain abscess, Ventricular septal defect, Elevated circulating C-reactive protein concentration, ... |
ORPHA:97214 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Splenomegaly, Rickets, Generalized aminoaciduria, Reduced blood ... |
OMIM:219800 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Delayed myelination, Gliosis, Large for gestational age |
OMIM:300868 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Flexion contracture, Reticulocytopenia, Anemia, Neutrope... |
OMIM:227645 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Splenomegaly, ... |
OMIM:604173 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hypermobility |
OMIM:615816 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Cystathioninuria, Hyperhomocysti... |
OMIM:277400 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Oligomeganephronia |
|
Secundum atrial septal defect, Elevated circulating creatinine concentration |
ORPHA:2260 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Agenesis of corpus callosum, Delayed peripheral myelination, Camptodactyly |
OMIM:605039 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Seizure, Abnormal myelination |
OMIM:617333 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis |
OMIM:618222 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Finger symphalangis... |
ORPHA:221016 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Abnormal bone ossification, Cardiomyopathy, Joint hyperflexibility... |
ORPHA:175 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor |
OMIM:117300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Sec... |
OMIM:619534 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse |
ORPHA:730 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne... |
OMIM:607944 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Finger symphalangis... |
ORPHA:221008 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Myelin outfoldings, Optic atrophy, Paresthesia, Distal sensory impairment |
ORPHA:99956 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness |
ORPHA:847 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Neutropenia |
OMIM:615471 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocytopenia... |
ORPHA:534 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Intrauterine growth retardation, Delayed myelination, Gliosis |
ORPHA:506358 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... |
OMIM:309000 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity |
OMIM:256800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro... |
ORPHA:90051 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Thrombocytopenia, Splenomegaly, Hypomagnesemia,... |
ORPHA:699 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Abnormality of extrapyramidal motor function |
OMIM:608907 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Gliosis |
OMIM:617403 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia |
OMIM:232240 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia |
OMIM:300755 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Diets-Jongmans Syndrome |
|
Gliosis, Short stature |
OMIM:618846 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Decrease... |
OMIM:242840 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia, Limited elb... |
OMIM:271510 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circu... |
ORPHA:449395 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Delayed peripheral myelination |
ORPHA:364577 |
Khan-Khan-Katsanis Syndrome |
|
Neutropenia, Joint contracture, Lymphopenia, Patent foramen ovale, Anemia |
OMIM:618460 |
Fusariosis |
|
Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Arthritis, Granuloma, Neut... |
ORPHA:228119 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227646 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Cohen Syndrome |
|
Neutropenia, Joint hyperflexibility, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Toxic Epidermal Necrolysis |
|
Abnormal myocardium morphology, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Ventricular septal defect, Double outlet right ventricle, ... |
ORPHA:163956 |
Zygomycosis |
|
Brain abscess, Pericarditis, Diabetes mellitus, Myocarditis, Osteolysis, Endocarditis, Neutropeni... |
ORPHA:73263 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopenia, Splenomegal... |
ORPHA:50918 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Whim Syndrome |
|
Lymphopenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Peripheral ... |
ORPHA:2388 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... |
ORPHA:51608 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Retinal coloboma, Abnormal mye... |
ORPHA:434179 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Abnormal myelination |
ORPHA:67045 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Apraxia |
OMIM:606889 |
Hermansky-Pudlak Syndrome |
|
Cardiomyopathy, Neutropenia |
ORPHA:79430 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia, Neutropenia |
OMIM:617248 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Sponastrime Dysplasia |
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Joint laxity, Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the p... |
ORPHA:93357 |
Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Pathologic fracture |
OMIM:208400 |
Degcags Syndrome |
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Small for gestational age, Vocal cord paralysis, Abnormal myelination, Failure to thrive, Agenesi... |
OMIM:619488 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anemia, Neutropenia |
ORPHA:95455 |
Leukoencephalopathy With Vanishing White Matter 5 |
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Loss of ambulation |
OMIM:620315 |