Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dys... |
ORPHA:94090 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... |
OMIM:616050 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic t... |
ORPHA:36913 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Abnormality of thrombocytes, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma... |
ORPHA:210110 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyro... |
OMIM:266130 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Truncal ataxia, Limb ... |
OMIM:208920 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Reduced propo... |
ORPHA:90362 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Angioi... |
OMIM:239000 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r... |
ORPHA:158061 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Retinal calcification, H... |
OMIM:127000 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum cr... |
OMIM:617744 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... |
OMIM:616267 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Decreased circulating complement C3 concentration, Hypoalbuminemia |
ORPHA:54370 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Reduced natural killer cell activity, I... |
OMIM:603553 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Optic atrophy, Anem... |
OMIM:259700 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... |
OMIM:619652 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:428 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp... |
OMIM:211900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react... |
OMIM:614034 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... |
OMIM:620366 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia... |
ORPHA:3124 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal deg... |
ORPHA:79320 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Generalized osteosclerosis, Optic atrophy, Hypocalcemia, Anemia |
ORPHA:53 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Optic atrophy, Hyperammonemia, Choreo... |
ORPHA:289916 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... |
OMIM:604290 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Cl... |
OMIM:259720 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hy... |
OMIM:226300 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... |
OMIM:615934 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... |
ORPHA:540 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hyperphosphatemia... |
ORPHA:93325 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Ataxia, Tremor, Rod-cone dystrophy, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, ... |
OMIM:212065 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Hypocalcemia, Neutropenia, Thr... |
ORPHA:47 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Intention tremor, ... |
OMIM:254900 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Involuntary movements, Reduced bone mineral density, ... |
ORPHA:79443 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmentary retinop... |
OMIM:614307 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Optic nerve hypop... |
ORPHA:221139 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Cystinuria |
ORPHA:163693 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... |
OMIM:618048 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocy... |
OMIM:212750 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hy... |
ORPHA:79444 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Ab... |
OMIM:613280 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
C3 Glomerulopathy |
|
Drusen, Paraproteinemia, Elevated circulating creatinine concentration, Yellow/white lesions of t... |
ORPHA:329918 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... |
OMIM:600081 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal bone structure, Coa... |
ORPHA:93160 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... |
ORPHA:276435 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutrop... |
ORPHA:79312 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bon... |
OMIM:264700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve... |
ORPHA:98813 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper... |
OMIM:235400 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Impaired T cell function, Increased circulating guanos... |
OMIM:613179 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529799 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Spastic tetraparesis, Osteoporosis, Spastic tetraplegia, Spastic diplegia, Hepa... |
OMIM:619487 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Leukocytosis, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Thrombocytosis, S... |
ORPHA:134 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Spast... |
OMIM:618476 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Optic atrophy, Increased circulating IgM level, Leukopenia, Chori... |
OMIM:617303 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys... |
ORPHA:33445 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Ataxia |
OMIM:617575 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... |
ORPHA:64743 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... |
OMIM:612926 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus |
OMIM:614018 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... |
OMIM:159550 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Myoclonus, ... |
ORPHA:20 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia |
OMIM:618387 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia |
ORPHA:2611 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Leukocytosis, Choreoathetosis, Increased circulating IgG level, Frequent falls |
ORPHA:206594 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... |
OMIM:608233 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy,... |
ORPHA:713 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... |
OMIM:612925 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Thrombocytopenia |
OMIM:615010 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Abnormality of retinal pigm... |
ORPHA:14 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulatin... |
OMIM:618213 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Decreased circulating total IgM, Hypocalcemia, Decreased circulating IgG leve... |
OMIM:607143 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Tremor |
ORPHA:212 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Optic atrophy, Epiphyseal stippling, Hyperphosphatemia, Calvarial ... |
OMIM:101800 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Sclerosis of skull base, Increased c... |
ORPHA:2905 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Cystinuria |
OMIM:606407 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Optic atrophy, Hypokalemia, Aminoaciduria, Hy... |
OMIM:617913 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Complement deficiency, Elevated circulating creatinine concentration, Decreased circulating compl... |
ORPHA:567544 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Osteomalacia, Elevated ci... |
OMIM:619381 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Retinal dystrophy, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, O... |
OMIM:614867 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Osteopetrosis... |
ORPHA:667 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin... |
ORPHA:2785 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Dystonia, Progressive extra... |
ORPHA:401768 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Urocanic Aciduria |
|
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Fre... |
OMIM:159950 |
Non-Functioning Paraganglioma |
|
Tremor, Hypertensive retinopathy, Vocal cord paralysis, Hypercalcemia |
ORPHA:94080 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Hypophosphatasia |
|
Craniosynostosis, Hypercalcemia, Anemia |
ORPHA:436 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Brucellosis |
|
Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism... |
ORPHA:1304 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Increased ser... |
OMIM:222470 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Decreased circulat... |
ORPHA:90060 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Cystinosis |
|
Abnormal pyramidal sign, Rickets, Aminoaciduria, Hypokalemia, Hypophosphatemia, Retinopathy |
ORPHA:213 |
Dent Disease 2 |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Hyperkalemia, ... |
ORPHA:340 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Craniosynostosis, Abnormal retinal morphology on macular OCT, Myoclonus, Increased... |
ORPHA:251004 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Abnormal urinary acylglycine profile, M... |
ORPHA:391417 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Dyst... |
OMIM:617013 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec... |
ORPHA:90363 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hyp... |
OMIM:261640 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... |
OMIM:618969 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase... |
ORPHA:449400 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Ataxia, Elevated circulating alpha-fetoprotein conc... |
OMIM:208900 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Limb fasciculations, Elevated circulating creatine kinase concentration |
ORPHA:90117 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Increas... |
ORPHA:505248 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypophosphate... |
ORPHA:699 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... |
OMIM:251880 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Hyperammonemia, Aminoaciduria, Thrombocytosis, Anemia |
OMIM:615486 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Thrombocytopenia, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergly... |
OMIM:606054 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... |
OMIM:615559 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Frequent falls, Babinski sign, Hypocalcemia |
ORPHA:746 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Spasticity |
OMIM:617093 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circu... |
OMIM:615816 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Aminoaciduria, Hypophosphatemia |
OMIM:618913 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased circulating complement factor B concentration... |
ORPHA:2298 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Increased circulating antibody level, Eosinophilia, Fasciculations |
ORPHA:99965 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Aminoaciduria, H... |
OMIM:619055 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Neutropenia, Decreased circul... |
ORPHA:175 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Lymphopenia, Hemiplegia |
OMIM:182410 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Spasticity |
OMIM:618329 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... |
ORPHA:297 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia |
OMIM:613388 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Paraparesis, Osteolysis, Sclerosis of skull base, Tetraparesis, Osteosclerosis of ... |
OMIM:602080 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio |
OMIM:618495 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells... |
ORPHA:79124 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia |
OMIM:239200 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Increased circulating antibod... |
ORPHA:85443 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Hy... |
ORPHA:1578 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor... |
ORPHA:79233 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati... |
ORPHA:186 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic nerve compression, Splenomegaly, Optic atrophy, Decrea... |
OMIM:612301 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Decreased calvarial ossification,... |
OMIM:241500 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Infantile Myofibromatosis |
|
Hemiplegia/hemiparesis, Bone cyst, Osteolysis, Hypercalcemia |
ORPHA:2591 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Abnormalit... |
ORPHA:94059 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphate... |
OMIM:277440 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Splenomegaly, Reduced bone mineral density, Decreased circulating total IgM, Leukope... |
OMIM:620210 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, R... |
OMIM:617710 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... |
ORPHA:544482 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis, Hypocalcemia, Increased circulating IgG4 level |
ORPHA:64744 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell... |
OMIM:301078 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Rickets, Hypophosphatemia, Hypophosphat... |
OMIM:307800 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Increased serum beta-hexosaminidase, Tremor, Cherry... |
ORPHA:845 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... |
ORPHA:247691 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Sialidosis Type 2 |
|
Ataxia, Tremor, Splenomegaly, Osteoporosis, Abnormal macular morphology |
ORPHA:87876 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... |
ORPHA:89842 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Optic atrophy, Spastic tetraplegia, Hypoalbuminemia, Dystonia, Spasticity |
OMIM:251300 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Optic atrophy, Dysmetria, Gait ataxia, Oculomotor apraxia, Spas... |
ORPHA:529665 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hyperammonemia, Neutropenia, Spasticity, Craniofacial dystonia |
OMIM:618253 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Hypoplastic optic chiasm, Progressive sp... |
OMIM:210000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax... |
ORPHA:363400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Poor coordination, Hypoalbuminemia, Attenuation of retinal blood vessels |
OMIM:610965 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia... |
OMIM:609541 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, Hypoalbuminemi... |
OMIM:613658 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, Optic atrophy, ... |
OMIM:608799 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Hypocalcemia, Myoclonic spasms, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Decreased circulating antibody level, Spasticity, Lymphopenia |
ORPHA:100 |
Rift Valley Fever |
|
Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Anemia, Increased circulati... |
ORPHA:319251 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Aminoaciduria, Sparse bone trabeculae, Hy... |
OMIM:300009 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th... |
OMIM:603585 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Hennekam Syndrome |
|
Craniosynostosis, Splenomegaly, Decreased circulating antibody level, Hypocalcemia, Lymphopenia |
ORPHA:2136 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Optic atrophy, Hypertonia, S... |
OMIM:616881 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hy... |
OMIM:227810 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
ORPHA:209335 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Clumsiness, Neutropenia |
OMIM:610738 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hypertonia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Optic atrophy, Ataxia |
ORPHA:99014 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Hypoalbuminemia, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Focal dyston... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypertensive retinopathy, Vocal cord paralysis, Hypercalcemia |
ORPHA:276621 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
Ethylene Glycol Poisoning |
|
Ataxia, Slurred speech, Hyperkalemia, Hypocalcemia, Myoclonus |
ORPHA:31826 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypocalcemia, Impaired T cell function |
OMIM:192430 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Senior-Loken Syndrome 1 |
|
Retinal dystrophy, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Spasticity |
OMIM:607694 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneury... |
ORPHA:562 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia |
OMIM:184850 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat... |
OMIM:120330 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperh... |
OMIM:277400 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... |
ORPHA:442835 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Righ... |
OMIM:607426 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... |
ORPHA:171 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... |
ORPHA:249 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Decreased circu... |
OMIM:275350 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br... |
OMIM:618877 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Attenuation of retinal blood vessels |
OMIM:614376 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R... |
ORPHA:79102 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Rickets, Generalized aminoaciduria, Hypophosphatemia |
ORPHA:2088 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Abnormality of extrapyramidal mot... |
ORPHA:320406 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularit... |
ORPHA:88 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, Truncal ata... |
ORPHA:309854 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy... |
OMIM:222300 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, M... |
OMIM:616271 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Retinal vasculitis, Decreased circulating total IgM, Decreased circula... |
OMIM:615758 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Myoclonus, Cherry red spot of the macula, Spast... |
ORPHA:309155 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Aminoaciduria, Hypokalemia, Hy... |
ORPHA:411629 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171420 |
Cryoglobulinemia, Familial Mixed |
|
Cryoglobulinemia, Elevated circulating creatinine concentration |
OMIM:123550 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Galloway-Mowat Syndrome 3 |
|
Spasticity, Hypoalbuminemia |
OMIM:617729 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Hypoalbuminemia |
OMIM:235510 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... |
OMIM:616100 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia, Tremor, Vocal cord paralysis, Retinal capillary hemangioma |
ORPHA:29072 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Osteoporosis, Optic ... |
OMIM:612199 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449427 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Lower limb... |
ORPHA:2169 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia |
ORPHA:79254 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Retinal pigment epithelial mottling, Rickets, Generalized aminoacidur... |
OMIM:219800 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Megaloblastic anemia, Cystathioninuria, Thr... |
OMIM:277380 |
22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Impaired T cell function, Retinal arteriolar tortuosity, Splenomegal... |
ORPHA:567 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Increased to... |
ORPHA:2137 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi... |
OMIM:614381 |
Sézary Syndrome |
|
Tremor, Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level |
ORPHA:3162 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Complement deficiency, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Gitelman Syndrome |
|
Paralysis, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Impaired T cell function, Tremor, Splenomegaly, Decreased serum zinc |
OMIM:201100 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Hypercalcemia, Gait ataxia |
ORPHA:476126 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb ataxia, Pigme... |
OMIM:617675 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, S... |
ORPHA:3299 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Op... |
ORPHA:79139 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Cranioectodermal Dysplasia 1 |
|
Retinal dystrophy, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis |
OMIM:218330 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atrophy, Highly elev... |
OMIM:251900 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Reduced bone mineral density, Abnormal optic nerve mor... |
ORPHA:83629 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase |
ORPHA:397744 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperlipidemia, Hemip... |
ORPHA:1830 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Chorea, Spastic tetraplegia, Hypertonia, Sp... |
OMIM:617864 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... |
ORPHA:1652 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Limb ataxia, Hand tremor, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Fasciculations, Cherry red spot of the ... |
OMIM:268800 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, T... |
OMIM:618278 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokale... |
ORPHA:3337 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Craniosynostosis, Tremor, Arginin... |
ORPHA:2203 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... |
OMIM:242840 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Gaucher Disease |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Ataxia, Retinopathy, Elevated circulati... |
ORPHA:355 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Hypertonia |
OMIM:272800 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki... |
ORPHA:99829 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfunction, Neutropenia, Generalized a... |
ORPHA:506 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morpho... |
OMIM:242900 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Rickets, Tooth abscess, Reduced bone mineral densit... |
ORPHA:89936 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Ataxia, Hyperammonemia, Choreoathetosis, Neutropenia, Hyperalaninemia |
OMIM:615471 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Optic ... |
ORPHA:79282 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... |
OMIM:216550 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, Spastic tetraplegia, Hypert... |
OMIM:615574 |
Trichothiodystrophy 3, Photosensitive |
|
Hypertonia, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Clonus, Osteomalacia, Chorioretinal dysplasia, Anemia, Aminoaciduria... |
ORPHA:534 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Rod-cone dystrophy, Babinski sign, Transient hypogammaglobulinemia of infancy, ... |
ORPHA:3132 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Felty Syndrome |
|
Splenomegaly, Osteolysis, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte m... |
ORPHA:47612 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... |
OMIM:300972 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Digeorge Syndrome |
|
Impaired T cell function, Splenomegaly, Anemia, Hemiparesis, Hypoplasia of the thymus, Hypocalcem... |
OMIM:188400 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Decreased circulating total Ig... |
ORPHA:369837 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Th... |
OMIM:617591 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Fasciculations, Limb hypertonia |
OMIM:620327 |
Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Epiphyseal stippling, Hypertonia, Hypoalbuminemia, Elevated circulating 7-dehydroch... |
OMIM:270400 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Reduc... |
OMIM:617052 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response |
ORPHA:3198 |
Doors Syndrome |
|
Thrombocytosis, Optic atrophy, Myoclonus, Sagittal craniosynostosis |
ORPHA:79500 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia |
OMIM:259775 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Craniosynostosis, Increased mean corpuscular hemoglob... |
ORPHA:33364 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Dystonia |
ORPHA:330021 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... |
ORPHA:99827 |
Pheochromocytoma |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171300 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia, Hypocalcemia, Dystonia |
OMIM:620330 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... |
OMIM:300755 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo... |
OMIM:610505 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia |
ORPHA:562639 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Optic atrophy, Clonus |
OMIM:617301 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Tremor, Splenomegaly, ... |
OMIM:615512 |
Oligomeganephronia |
|
Optic disc coloboma, Elevated circulating creatinine concentration |
ORPHA:2260 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... |
OMIM:256040 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Tremor, Head titubation, Babinski sign, Abnormal pyra... |
ORPHA:99027 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Elevated circulating creatine kinase concentration, Clonus |
OMIM:619424 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Ocular albinism, Neutropenia, Dystonia |
OMIM:617050 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia, Lipemia retinalis |
OMIM:232220 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal... |
ORPHA:3008 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Trunc... |
OMIM:615356 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Abnormality of extrapyramidal motor function, D... |
ORPHA:79255 |
Aspergillosis |
|
Increased circulating IgE level, Vitritis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Coccidioidomycosis |
|
Eosinophilia, Abnormal retinal morphology, Abscess, Abnormality of the spleen, Osteolysis, Increa... |
ORPHA:228123 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Increased serum bile acid concentration, Tremor, ... |
ORPHA:69665 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Hy... |
OMIM:617527 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Optic atrophy, Progressive spastic quadriplegia, Abnormal... |
ORPHA:521426 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome... |
OMIM:619534 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:604173 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
Charge Syndrome |
|
Lymphopenia, Retinal coloboma, Hypocalcemia |
OMIM:214800 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Increased circulating interleukin 6 concentration, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449563 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Spastic diplegia, T lymphocytopenia, Progressive spastic quadriplegi... |
OMIM:607944 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Spasticity |
OMIM:616539 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM leve... |
ORPHA:79078 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone minera... |
ORPHA:2909 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Whim Syndrome |
|
Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level, Poor fine moto... |
ORPHA:51636 |
Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Bone cys... |
ORPHA:797 |
Pmm2-Cdg |
|
Osteopenia, Abnormality of coordination, Ataxia, Reduced thyroxin-binding globulin, Osteoporosis,... |
ORPHA:79318 |
Glucagonoma |
|
Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukem... |
ORPHA:221008 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227645 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Exaggerated startle response, Involuntary movements, Decreased ser... |
ORPHA:438213 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Hypertonia, Neutropenia |
OMIM:617248 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukem... |
ORPHA:221016 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Granuloma, N... |
ORPHA:228119 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Williams Syndrome |
|
Osteopenia, Increased bone mineral density, Ataxia, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:50918 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Hypertonia, Neutropenia, Lymphopenia, Anemia |
OMIM:618460 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Neutropenia |
ORPHA:193 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Neutropenia, Athetoi... |
OMIM:617799 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Decreased circulating IgG level, Delayed ossification of carpal bones, Neutropenia |
OMIM:271510 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Neutropenia |
OMIM:618005 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227646 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia Type 1 |
|
Osteolysis, Hypercalcemia, Reduced bone mineral density |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Williams-Beuren Syndrome |
|
Osteopenia, Incoordination, Hypercalcemia, Retinal arteriolar tortuosity, Poor coordination, Voca... |
OMIM:194050 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Sotos Syndrome |
|
Hypercalcemia, Craniosynostosis, Tremor, Poor coordination, Acute lymphoblastic leukemia |
ORPHA:821 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Abnormal optic nerve morphology, Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Hypertonia, Spasticity |
OMIM:618367 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Viss Syndrome |
|
Retinal detachment, Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG... |
OMIM:619472 |
Zygomycosis |
|
Retinal detachment, Brain abscess, Osteolysis, Retinal arterial occlusion, Neutropenia, Splenic a... |
ORPHA:73263 |
Aspartylglucosaminuria |
|
Spasticity, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Neutropenia, Ivory epiphyses of the phalanges of the hand, Decre... |
ORPHA:93357 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |