Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg... |
OMIM:139090 |
Essential Thrombocythemia |
|
Myelofibrosis, Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal plate... |
ORPHA:3318 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased... |
OMIM:187900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Megakaryocyte dysplasia, ... |
OMIM:155100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Myelofibrosis, Bone marrow hypercellularity,... |
OMIM:616937 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Ca... |
ORPHA:603 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Distal amyotrophy, Mildly elevated creatine kinase, Fiber type... |
OMIM:614369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Leukocytosis, Bruising susceptibility, Thrombo... |
OMIM:188000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impa... |
OMIM:615888 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... |
OMIM:609200 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber... |
OMIM:500002 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... |
OMIM:158600 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... |
OMIM:616228 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
ORPHA:86812 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... |
OMIM:617760 |
Myopathy, Centronuclear, 4 |
|
Frequent falls, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomina... |
OMIM:614807 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl... |
OMIM:609273 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Upper limb muscle weakne... |
ORPHA:309169 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... |
OMIM:616471 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Intrinsic hand muscle... |
ORPHA:399081 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D... |
OMIM:611705 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... |
OMIM:620068 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal me... |
ORPHA:238459 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Elevated circulating creatine kinase c... |
OMIM:616924 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... |
OMIM:620310 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Elevated circulating creatine kinase concentra... |
OMIM:248800 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Bruising susceptibility, Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Flexion contracture,... |
OMIM:300718 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... |
OMIM:616231 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentrati... |
OMIM:255160 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Frequent falls, ... |
ORPHA:353 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... |
OMIM:615048 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... |
OMIM:619216 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Impaired ADP-induced platelet aggregation, Bruising susceptibility |
OMIM:609821 |
Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temperature sensation, Impai... |
OMIM:619574 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ... |
ORPHA:266 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... |
OMIM:619542 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula... |
OMIM:616209 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli... |
OMIM:619042 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy |
OMIM:617018 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le... |
OMIM:160500 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Scoliosis, Increased var... |
OMIM:300717 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... |
OMIM:612937 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Scoliosi... |
OMIM:617066 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... |
OMIM:181400 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... |
ORPHA:597 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Distal sensory i... |
ORPHA:399086 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... |
OMIM:255200 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra... |
ORPHA:206599 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Diaphr... |
OMIM:614399 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Myopath... |
OMIM:255100 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... |
OMIM:610687 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra... |
OMIM:619065 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... |
OMIM:617072 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ... |
ORPHA:254886 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Frequent falls, Elevated circulating creatine kinase concentration, Abnorm... |
ORPHA:75840 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased circulating cre... |
OMIM:302045 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Spasticity |
OMIM:618242 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... |
OMIM:300835 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Elevated circulating creatine kinase concentration |
OMIM:606768 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, ... |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, ... |
OMIM:611615 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Portal ... |
ORPHA:729 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration |
OMIM:607091 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormality... |
ORPHA:154 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, S... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Elevated circulating creatine kinase concentration, Centrally n... |
OMIM:617258 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine kinase concen... |
ORPHA:353327 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... |
ORPHA:59135 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... |
OMIM:609284 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... |
ORPHA:75564 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:619790 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... |
ORPHA:160 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Elevated creat... |
ORPHA:352470 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased... |
OMIM:610717 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor... |
ORPHA:171445 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fiber... |
OMIM:300816 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Elevated circulating creatine kinase concent... |
ORPHA:280333 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal cir... |
OMIM:615959 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi... |
OMIM:603034 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Babinski... |
ORPHA:2596 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Impaired distal prop... |
OMIM:258450 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated... |
OMIM:613954 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia |
ORPHA:2579 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concen... |
OMIM:500009 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Myopathy, Distal, 3 |
|
Split hand, Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Join... |
OMIM:610099 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur... |
ORPHA:972 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... |
ORPHA:98911 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Severe short stature, Death in childhood |
OMIM:302000 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis |
ORPHA:50817 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:408 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Frequent falls, Hyperlordosis, Rigidity, Dilated cardiomyopathy, Limb muscle weakne... |
OMIM:161800 |
Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia |
ORPHA:2598 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Hypertrophic cardiomyopat... |
OMIM:618237 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... |
OMIM:608340 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib... |
OMIM:618416 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Abnormality of bone mineral density |
ORPHA:1114 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Elevated circulating creatine... |
OMIM:301830 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Myopathy, Ataxia |
ORPHA:104 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr... |
ORPHA:98855 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Thoracic scoliosis, Facial palsy, Restrictive cardiomyopathy, Elevated circulat... |
OMIM:612954 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:261 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Dystonia, Ataxia, Tongue fasciculations, Type 1 muscle fiber predominanc... |
OMIM:618276 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:98853 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... |
OMIM:620249 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300695 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hyperlordosis, Chorea, Right ventricular dilatation, Myopathy, Abnormal circulating... |
ORPHA:369840 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:98863 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Impaired pain sensation, Flexion contracture, Impaired distal ... |
OMIM:607684 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsi... |
ORPHA:101077 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Myop... |
ORPHA:300179 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis, Myopathy, Shoul... |
OMIM:615156 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... |
ORPHA:263494 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia... |
OMIM:616719 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage |
ORPHA:1980 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia |
OMIM:602079 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Qua... |
ORPHA:206546 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy, Hypertonia, Dystonia,... |
ORPHA:26792 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Lethal Congenital Contracture Syndrome 5 |
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Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... |
ORPHA:34515 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy, Hemolytic anemia |
OMIM:230450 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:620265 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... |
ORPHA:100024 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... |
OMIM:620389 |
Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Impaired platelet aggregation |
OMIM:605735 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Tach... |
ORPHA:178320 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... |
OMIM:620351 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... |
OMIM:618387 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf... |
OMIM:611307 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Postural tremor, Flexion contracture, Tongue tremor, Scol... |
OMIM:618524 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally... |
OMIM:613327 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:310300 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:232400 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired proprioception, ... |
ORPHA:251282 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:615159 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C... |
OMIM:613157 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... |
ORPHA:98826 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia |
OMIM:551500 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build... |
OMIM:254090 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardi... |
OMIM:618234 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal sensory impairment, Distal amyotro... |
OMIM:609260 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C... |
OMIM:614096 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid dro... |
OMIM:617228 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Elevated circulating creatine k... |
OMIM:615980 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... |
OMIM:610140 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, C... |
OMIM:300842 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Myopathy, Dysdiadochokinesis, Progressive cerebellar ataxia, Myoc... |
ORPHA:254881 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase... |
OMIM:607855 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Thrombocytopenia, An... |
OMIM:611490 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Sideroblastic anemia, Elevated circulating creatine kinase concentration... |
OMIM:255125 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Elevated creatine kinas... |
ORPHA:57 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis |
ORPHA:101078 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Bone... |
ORPHA:824 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Marinesco-Sjögren Syndrome |
|
Short palm, Skeletal muscle atrophy, Ataxia, Coxa valga, Avascular necrosis of the capital femora... |
ORPHA:559 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... |
ORPHA:859 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Lymphoid hyperplasia, Decreased specific antibody response to polysaccharide vaccine, Splenomegal... |
OMIM:616452 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Cardiomyop... |
ORPHA:119 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Acquired Partial Lipodystrophy |
|
Myopathy, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Slurred speech, Myoclonus, Nonprogressive cerebellar... |
ORPHA:3327 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytop... |
ORPHA:3260 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ... |
ORPHA:99013 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis |
OMIM:540000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina... |
OMIM:609308 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia |
OMIM:274240 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Myopathy, Erythroid hyperplasia |
OMIM:300653 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... |
OMIM:610246 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Abnormality of the lymphatic system |
ORPHA:638 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Elevated circulating ... |
OMIM:606612 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem... |
OMIM:226670 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal muscle ... |
ORPHA:367 |
Typical Nemaline Myopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Limb-girdle musc... |
ORPHA:171436 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:42 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... |
ORPHA:713 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Hypoglycinemia, Hyposerinemia |
OMIM:610992 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thromboc... |
OMIM:612840 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinodactyly, Incre... |
ORPHA:178148 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Impaired distal proprioception, Th... |
OMIM:270685 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Kyphosis, Dilated cardiomyopathy, Ragged-red ... |
ORPHA:352447 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath... |
OMIM:602541 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... |
OMIM:619424 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Hypertonia, Hemiplegia/hemiparesis |
ORPHA:2571 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina... |
OMIM:613818 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:91130 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replacement of skeletal ... |
ORPHA:52430 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Babinski... |
OMIM:252011 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophi... |
OMIM:613561 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... |
OMIM:256550 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... |
OMIM:270800 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype... |
OMIM:620285 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... |
OMIM:154276 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Extremely elevated creatine kinase, Somatic sensory dysfunction, Upper limb muscle weakness, Dist... |
ORPHA:99939 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Cerebe... |
ORPHA:99901 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios... |
ORPHA:254875 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Failure to thrive, Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count |
OMIM:609981 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Thrombocytopeni... |
OMIM:169400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ba... |
OMIM:608840 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Myopathy, Cardiomyopathy, Cervical C2/C3 vertebral ... |
OMIM:616549 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus |
OMIM:619028 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated ... |
ORPHA:682 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Hypophosphatasia, Childhood |
|
Myopathy, Elevated plasma pyrophosphate, Bowing of the legs |
OMIM:241510 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Optic Atrophy 11 |
|
Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements... |
OMIM:617302 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Limb-girdle muscular dyst... |
ORPHA:369847 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Spastic tetraparesis, Babinski sig... |
ORPHA:3208 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Jaundice, Myopathy |
ORPHA:2349 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epist... |
OMIM:185070 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca... |
ORPHA:272 |
Snakebite Envenomation |
|
Hyponatremia, Abnormal bleeding, Epistaxis, Paralysis, Rhabdomyolysis, Intracranial hemorrhage, P... |
ORPHA:449285 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Cardiomyopathy, Abnormal circulating creatine kinase concentratio... |
OMIM:617336 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu... |
ORPHA:166002 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... |
ORPHA:64743 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor... |
OMIM:615512 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... |
ORPHA:171433 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Failure to thrive in infancy, Flexion contracture, Spastic paraplegia, Scoliosis,... |
OMIM:619026 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p... |
ORPHA:14 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... |
OMIM:154275 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Skeletal muscle hypertrophy, Scol... |
ORPHA:99014 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosi... |
OMIM:615415 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi... |
OMIM:617710 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, El... |
OMIM:300280 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... |
OMIM:619040 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... |
ORPHA:324604 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Distal amyotr... |
OMIM:180800 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Lymphadenopathy, Cognitive impairment, Anemia |
ORPHA:858 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... |
OMIM:608233 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contractur... |
ORPHA:87876 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle fiber size, Skel... |
ORPHA:2348 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... |
ORPHA:67044 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... |
ORPHA:172 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s... |
ORPHA:79083 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas... |
ORPHA:681 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Distal sensory impairment,... |
OMIM:606842 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs |
ORPHA:882 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Split hand, Distal sensory impairment, Dis... |
OMIM:118300 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:613345 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ... |
ORPHA:507 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Flexion contracture, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myoclonus, Scolios... |
ORPHA:2590 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... |
OMIM:208920 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Ragg... |
OMIM:616479 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Impaired platelet aggregation, Abnormal circulating eicosanoid con... |
OMIM:618372 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevate... |
OMIM:616828 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Mediastinal... |
ORPHA:809 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Osteoporosi... |
ORPHA:79301 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal sensory impairment, Abnormality of the calf... |
ORPHA:600 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl... |
OMIM:616503 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor |
ORPHA:477774 |
Sengers Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Microcytic anemia, Ascites, I... |
ORPHA:90308 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci... |
ORPHA:206572 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis, Obesity, Myopathy, Cardiomyop... |
ORPHA:98907 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb ataxia, Dista... |
OMIM:617675 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, Nephrotic syndrome... |
OMIM:617303 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Ataxia, Clonus, Elev... |
OMIM:615673 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, I... |
ORPHA:502423 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Diaphragmatic paralysis, Craniofacial dystonia, Plantar flexion contract... |
OMIM:620011 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Elevated circulating creatine kina... |
ORPHA:254361 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Clonus, Elevated circulating creatine kinase concentration, Flexion contracture, Muscle fiber atr... |
OMIM:620240 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Hypoalbuminemia, Decrease... |
OMIM:241600 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Myofiber disarray, Myopathy, Limb dystonia, Increased var... |
OMIM:604377 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Immunodeficiency 10 |
|
Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia,... |
ORPHA:443811 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Aregenerative Anemia |
|
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:101096 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Kyphosis, Ragged-red muscle fib... |
OMIM:615084 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616239 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Scoliosis, Dystonia |
ORPHA:330050 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Kyphosco... |
OMIM:614727 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Spastic paraplegia, Hemipar... |
ORPHA:98673 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Talipes equinovarus, Scoliosis, Neutropenia, Reduced natural killer cell count, Cuta... |
OMIM:619752 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Impaired proprioce... |
ORPHA:71 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature |
ORPHA:2901 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero... |
ORPHA:210110 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, In... |
OMIM:600462 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachypnea, Increased circulating interferon-ga... |
ORPHA:542323 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splen... |
OMIM:257200 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Increased body weight, Hepatitis, Weight ... |
ORPHA:905 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the lymphat... |
ORPHA:54251 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, C... |
ORPHA:98908 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle... |
OMIM:608930 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... |
OMIM:618495 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thromb... |
ORPHA:263501 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Cardiomyopathy, Scoliosis, Weakne... |
OMIM:201470 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Lymphopenia, Ataxia, Tremor, Spasticity, Failure to thrive, Aplasia/Hypo... |
ORPHA:100 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Thrombocytopenia, Rad... |
OMIM:194350 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:100025 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... |
ORPHA:158061 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:170400 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Myopathy, Cardiomyopathy |
ORPHA:1215 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th... |
OMIM:229050 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hy... |
OMIM:619743 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdom... |
ORPHA:834 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:228305 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Cerebral hemorrhage, Abnormality of skeletal muscle ... |
OMIM:620278 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Splenomegaly, Leukocytosis, Respiratory insufficiency, Decreased circulating an... |
OMIM:618042 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... |
OMIM:615157 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Splenomegaly, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Cardiomy... |
ORPHA:79312 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Fasciculations |
ORPHA:65684 |
Pseudoachondroplasia |
|
Metaphyseal widening, Abnormal form of the vertebral bodies, Short phalanx of finger, Genu varum,... |
ORPHA:750 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Death in infancy, Intrauterine growth retardation, Death in childhood |
OMIM:615440 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... |
ORPHA:254892 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:607734 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs... |
OMIM:301000 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... |
ORPHA:210136 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ataxia, Dilated cardiomyopathy, Ragged-red muscle fibers, Slurred speec... |
ORPHA:1349 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia, Ca... |
OMIM:606054 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase |
ORPHA:663 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Action tremor, Calcaneovalgus deformity, Slurred speech, Obesit... |
ORPHA:93952 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Bone marrow hypercellularity, Pancytopenia, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:520 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardiomegaly, Incre... |
OMIM:617022 |
Tufted Angioma |
|
Megakaryocytopenia, Petechiae, Thrombocytopenia, Anemia, Purpura |
ORPHA:1063 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Ragged-red musc... |
OMIM:607426 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia... |
OMIM:214500 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Myopathy, Thrombocytopenia |
ORPHA:169090 |
Tularemia |
|
Brain abscess, Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M... |
ORPHA:3392 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Scoliosis, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nu... |
OMIM:615578 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... |
ORPHA:319514 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Elevated circulating creatine kinase concentration, Tremor, Proximal amyotrophy, Upper limb muscl... |
ORPHA:209335 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Tapered f... |
OMIM:301072 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Clonus, Small thenar eminence, Distal lower limb muscle weakness, Tendon ruptur... |
OMIM:620080 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Elevated circulating creatine kinase concentration, Tr... |
OMIM:164310 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Dystonia, Rhizomelia, Ataxia, Tremor, Flexion contracture, Opisthotonus, Chore... |
OMIM:616271 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... |
OMIM:603553 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Dilated c... |
ORPHA:70595 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia, Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Subarachnoid hemorrhage, Hemiplegia, Decreased proportion of CD4-positive helper T ... |
OMIM:243700 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hypertonia, Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis |
ORPHA:588 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter... |
OMIM:616866 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal amyotrophy, Fiber typ... |
OMIM:271245 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subse... |
ORPHA:221139 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Situs inversus totalis, Ureteral atres... |
OMIM:208540 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Impair... |
OMIM:268800 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ... |
ORPHA:98915 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia |
OMIM:618637 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fibe... |
OMIM:612949 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Flexion contracture, Thrombocytopenia |
OMIM:612952 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle at... |
ORPHA:99965 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Kyphoscoliosis, Tremor, Flexion... |
OMIM:300055 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Sple... |
ORPHA:167 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity |
ORPHA:77260 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:97290 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Spastic... |
OMIM:619170 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neu... |
OMIM:232220 |
Immunodeficiency 9 |
|
Myopathy, Failure to thrive, Hypoplasia of the thymus |
OMIM:612782 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Anemia, Abnormality of th... |
ORPHA:298 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Dista... |
OMIM:616505 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome |
OMIM:269920 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... |
OMIM:614034 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, Choreoa... |
ORPHA:289916 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Femur fracture, Facial palsy, Sandwich appearance ... |
OMIM:259700 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of... |
ORPHA:812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, Fasciculatio... |
OMIM:313200 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration s... |
ORPHA:137898 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, EM... |
OMIM:601419 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... |
ORPHA:543 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Impaired distal tactile sensati... |
OMIM:182410 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Transaldolase Deficiency |
|
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... |
ORPHA:540 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Leber Optic Atrophy |
|
Postural tremor, Myopathy, Ataxia, Dystonia |
OMIM:535000 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:141333 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ... |
ORPHA:2388 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Axial Osteomalacia |
|
Myopathy, Polycystic liver disease, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hepatomegaly, Ataxia, Kyphoscoliosis, Splenomegaly, Babinski sign, Spasticity, Macroglossia, Tali... |
OMIM:616354 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, EMG... |
OMIM:609286 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness |
ORPHA:97229 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Progressive psychomotor deterioration, Mac... |
ORPHA:251004 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Lymphopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Flexio... |
OMIM:617591 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Elevated circulating creati... |
OMIM:617013 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopeni... |
ORPHA:398124 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hyperammonemia, Choreoath... |
ORPHA:27 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia, Hy... |
OMIM:618049 |
Sézary Syndrome |
|
Skeletal muscle atrophy, Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte... |
ORPHA:3162 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa... |
OMIM:261640 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag... |
OMIM:260400 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial hyperostosis,... |
OMIM:176920 |
Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Anemia, Irritability, Hematuria, Thrombocytopenia |
ORPHA:69077 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Abnormality of the ... |
ORPHA:206594 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... |
OMIM:603903 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Involunt... |
ORPHA:506 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr... |
ORPHA:90045 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Barth Syndrome |
|
Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic microcytic anemia, Skeletal ... |
OMIM:302060 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abno... |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating creatinine concent... |
OMIM:608104 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Increased varia... |
OMIM:615595 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Small for gestational age, Thrombocytopenia, Macroglossia, Ascites, Talipes... |
ORPHA:79325 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Bone marrow maturation arrest, Anemia, Neutropen... |
OMIM:617475 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy |
OMIM:254210 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Prolonged bleeding time, Decreased calvarial ossification, Bruising susceptibility |
OMIM:616229 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukop... |
OMIM:620210 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Myopathy, Cardiom... |
OMIM:617713 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, ... |
ORPHA:391411 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ataxia, Gait ataxia |
OMIM:613077 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Involuntary movements, Chorea, Dilated cardiomyopathy, Paroxysmal dyski... |
OMIM:606703 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Ivic Syndrome |
|
Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L... |
OMIM:147750 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased c... |
OMIM:222700 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Ventricular septal defect, Small for gestational age, He... |
OMIM:208085 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Bone marrow hypercellulari... |
ORPHA:98849 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot... |
OMIM:606002 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Chronic kidney diseas... |
ORPHA:3156 |
Adrenomyodystrophy |
|
Myopathy, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia,... |
ORPHA:91547 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, En... |
ORPHA:168569 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Carcinoid Syndrome |
|
Myopathy, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic pe... |
ORPHA:100093 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis, Failure to thr... |
ORPHA:370079 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur... |
OMIM:252920 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Cor triatrium sinister, Ventricular septal defect, Dex... |
OMIM:618280 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Abnormal heart morphology, Hep... |
ORPHA:505248 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Somatic sensory dysfunction, Ataxia, Cardiomegaly, Elevated circulating ... |
OMIM:266500 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia |
ORPHA:2123 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomega... |
OMIM:239850 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis |
OMIM:607721 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Osteomalacia, Osteoporosis, Rickets |
ORPHA:1901 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Spleno... |
OMIM:615895 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:99828 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Impaired distal vibration sensation, Spastic para... |
OMIM:616586 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni... |
OMIM:605432 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Myoclonus, Fa... |
ORPHA:95428 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... |
OMIM:112250 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Hyperammonemia, Type 2 musc... |
OMIM:615471 |
Cystinosis |
|
Portal hypertension, Abnormal pyramidal sign, Myopathy, Hypokalemia, Hypophosphatemia, Failure to... |
ORPHA:213 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... |
ORPHA:335 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Hyperkalemia |
OMIM:240200 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Small hand, Spastic diplegia, Ta... |
OMIM:619980 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... |
OMIM:612714 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Elevated ci... |
OMIM:254940 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact... |
ORPHA:3068 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Increased circulating interferon-gamma concentration, Respi... |
ORPHA:563 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia, Scoliosis, ... |
OMIM:619737 |
Boutonneuse Fever |
|
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia... |
ORPHA:83313 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:47612 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Lim... |
OMIM:183090 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Spasticity, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Ventricular se... |
ORPHA:263297 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Thoracic scoliosis, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foo... |
OMIM:610185 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Jaundice, Patent ductus ... |
ORPHA:290 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... |
ORPHA:85451 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis |
OMIM:613987 |
Braddock-Carey Syndrome 2 |
|
Megakaryocytopenia, Thrombocytopenia |
OMIM:619981 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration... |
OMIM:201475 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Choreoathetosis, Hyperton... |
ORPHA:17 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Ataxia, Hyperlordosis, Paten... |
ORPHA:354 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Melas |
|
Abnormal central motor function, Ataxia, Dilated cardiomyopathy, Ragged-red muscle fibers, Concen... |
ORPHA:550 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal... |
OMIM:616651 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Dysesthesia, Babinski sign, Limb ataxia, Gait ataxia, Clumsiness, Cardiomyo... |
OMIM:619259 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Impaired platelet aggregation |
OMIM:614077 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Small for gestational age, Coxa valg... |
OMIM:301056 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Myopathy, Cardiomyopathy, Tongue fasciculations, Myoclonus, Hepatic steatosis |
OMIM:614922 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Elevated circulating creatin... |
OMIM:610377 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Failure to thrive, Limb hypertonia |
OMIM:613489 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, EMG: myopathic abnormalities, Overlapping toe |
ORPHA:457365 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Cholangiocarc... |
ORPHA:465508 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Ba... |
OMIM:234200 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Ragged-... |
OMIM:614924 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Lymphopenia, Thrombo... |
OMIM:618624 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinus calcaneus, Rhabdomyolysis, Babinski sign, Cholestasis, Card... |
ORPHA:746 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Hyp... |
OMIM:128100 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... |
ORPHA:319487 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyp... |
ORPHA:2953 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Thrombocytopenia, Increas... |
ORPHA:158048 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Generalized amyotrophy... |
ORPHA:572798 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:261476 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol... |
ORPHA:2330 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Thenar ... |
OMIM:612394 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of di... |
ORPHA:280365 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... |
ORPHA:240103 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... |
ORPHA:2686 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Small hand, Gait ataxia, Short foot, ... |
OMIM:300354 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Nephrocalcinosis, Renal Fanconi... |
OMIM:276700 |
Farber Disease |
|
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Short... |
ORPHA:333 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Sideroblastic anemia, Ragged-red muscle fibers, Ataxia |
OMIM:530000 |
Vici Syndrome |
|
Atrial septal defect, Lymphopenia, Elevated circulating creatine kinase concentration, Dilated ca... |
OMIM:242840 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia |
OMIM:200995 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating cr... |
OMIM:614576 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Myocarditis,... |
ORPHA:829 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... |
OMIM:606003 |
Mirage Syndrome |
|
Hyponatremia, Petechiae, Rocker bottom foot, Radial club hand, Thrombocytopenia, Patent ductus ar... |
OMIM:617053 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Small hand, Elbow flexion contracture, Spastic tetrapl... |
ORPHA:371364 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Hypocalcemia |
ORPHA:2238 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,... |
OMIM:277900 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... |
ORPHA:1358 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Hypocalcemia |
OMIM:606407 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... |
OMIM:304790 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Tremor, Long fingers, Flexion contracture, 2-3 toe synda... |
OMIM:218000 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Dystonia, Lower limb muscl... |
ORPHA:845 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... |
ORPHA:297 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... |
OMIM:210000 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Myocarditis, Lymphadenopathy, Tubulointerstitial nephritis, Ne... |
ORPHA:139402 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... |
OMIM:620326 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... |
OMIM:203300 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased... |
OMIM:133100 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Clonus, Splenomegaly, Leu... |
OMIM:259720 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Anemia |
OMIM:620296 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Small for gestational age, De... |
OMIM:277380 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity, Tongue fasciculations |
OMIM:618822 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Preeclampsia |
|
Thrombocytopenia, Abnormality of the hepatic vasculature |
ORPHA:275555 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Idiopathic Camptocormia |
|
Myositis, Parkinsonism, Elevated circulating creatine kinase concentration, Fatty replacement of ... |
ORPHA:1320 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Diastasis recti, Large for gestational age, Short proximal phalanx of finger, Thrombo... |
OMIM:616638 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... |
ORPHA:3243 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... |
OMIM:613812 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisth... |
OMIM:608013 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Osteoporosis |
OMIM:613075 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexi... |
OMIM:619183 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Absent thumb, Absent radius, ... |
OMIM:227645 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Mgat2-Cdg |
|
Abnormal bleeding, Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Decrea... |
ORPHA:79329 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode, Hyperglycinemia, Hyposerinemia |
ORPHA:284417 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral... |
ORPHA:79102 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse, Bruising susceptibility, M... |
OMIM:606408 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:614298 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, L... |
ORPHA:93552 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Increased circulating antibody level, Pr... |
OMIM:170100 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad... |
ORPHA:231222 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... |
ORPHA:168572 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Rhizomelia, Failure to thrive in infancy, Kyphoscoliosis, Thrombocytopenia, G... |
OMIM:611209 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradykinesia, Myoclonus, T... |
OMIM:137440 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Hyperhomocystinemia, Normoch... |
OMIM:614857 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Hypertonia, Atrial septal defect, Thrombocytopenia |
OMIM:620184 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Coxa valga, Thoracolumbar kyphosis, Splenomegaly, Patent ductus arteriosus,... |
OMIM:230600 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Cardiorespiratory arrest |
ORPHA:280785 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Petechiae |
OMIM:602473 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal... |
ORPHA:773 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Cardiomy... |
OMIM:251000 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdom... |
ORPHA:79095 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Ventricular septal defect, Small for gestational age, Decreased fi... |
OMIM:616897 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... |
OMIM:618641 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus totalis, Thiamine-respons... |
OMIM:249270 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Myocarditis, Leukocytosis, Rhabdomyolysis, P... |
ORPHA:810 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Enlarged kidney, ... |
ORPHA:79259 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Rickets, Cholestasis,... |
ORPHA:79303 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Thrombocyto... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Spasticity, Hyperammonemia, Ascite... |
OMIM:614702 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... |
OMIM:213600 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Hypertonia, Scoliosis, Spasticity, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosis, Ovo... |
ORPHA:1830 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin... |
ORPHA:1328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... |
OMIM:616538 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Iron ... |
ORPHA:99931 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Hypochloremia, Hypokalemia, In... |
OMIM:241200 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Small for gestational age, Ventricular septal defect, Ext... |
OMIM:617021 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Tremor, Abnormal heart morphology, Spasticity, Broad thumb, Brac... |
OMIM:300978 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Coxa var... |
ORPHA:800 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul... |
OMIM:613989 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Hypertriglyceridemia, Myopathy, ... |
ORPHA:79086 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ... |
ORPHA:94093 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis |
OMIM:250800 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Elevated circulating... |
ORPHA:480864 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Failure to thrive, Abnormal pulmon... |
ORPHA:974 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase... |
ORPHA:264580 |
Immunodeficiency 92 |
|
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619652 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Ataxia, Pericardial effusion, Tremor, Kyphosis, Flexion contracture, ... |
OMIM:212065 |
Scleromyxedema |
|
Myopathy, Elevated circulating creatine kinase concentration, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase... |
ORPHA:79240 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b... |
ORPHA:684 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocardit... |
ORPHA:292 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Xanthinuria, Type I |
|
Myopathy, Hyperxanthinemia |
OMIM:278300 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Abnormal mesentery morphology, Myopathy, Cardiomyopathy, Anemia |
ORPHA:3463 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Splenomegaly, Kyphosis, Genu valgum, Mac... |
ORPHA:583 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Cyanosis |
ORPHA:2414 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:615356 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Acute leukemia, Lymphadenopathy |
ORPHA:99812 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Peric... |
OMIM:615846 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Glycogen Storage Disease Xv |
|
Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance |
OMIM:613507 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Flexion contracture, Scoliosis, Decreased body weight |
OMIM:278760 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Anemia, Death in childhood |
OMIM:615838 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Patent ductus arteriosus, Dystonia, Spasticity, ... |
OMIM:251290 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Scoliosis, Clinodactyly of the 5th fi... |
ORPHA:94063 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo... |
ORPHA:324410 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlar... |
ORPHA:57777 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... |
OMIM:619036 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoclonus, Spastici... |
ORPHA:442835 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... |
OMIM:618278 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Ataxia, Gastrointestinal hemorrhage, Cachexia... |
ORPHA:3452 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respirator... |
OMIM:607625 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha... |
OMIM:228000 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ... |
OMIM:618440 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Impaired ... |
ORPHA:31150 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Vestibular areflexia, Ataxia |
ORPHA:886 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Facial hypotonia, Ataxia, Spastic paraplegia, Genu valgum, Hepatosplenomegaly, Macr... |
ORPHA:309282 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Long thum... |
OMIM:620370 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Dystoni... |
ORPHA:79330 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Scoliosis, Limb dystonia, Atrial septal defect, Spastic... |
ORPHA:457351 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Macroglo... |
ORPHA:258 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... |
ORPHA:77297 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas... |
OMIM:617941 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Dystonia, Joint contracture |
OMIM:617664 |
Presynaptic Congenital Myasthenic Syndromes |
|
Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Art... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Art... |
ORPHA:590 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Patent ductus arteriosus, Myopathy, Talipes equinovarus,... |
OMIM:614557 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Abnormal pyramida... |
OMIM:248500 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Thymoma, Proximal amyotrophy |
OMIM:159400 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia... |
ORPHA:319218 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoplasia of the musculature, Dila... |
ORPHA:231226 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe... |
OMIM:274000 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Thrombocyt... |
OMIM:242900 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm... |
OMIM:224230 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Endocarditis, Lymphade... |
ORPHA:549 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... |
ORPHA:99845 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Alg12-Cdg |
|
Hyponatremia, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ventricular septal ... |
ORPHA:79324 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Cachexia, Intracranial hemorrhage, Myopathy, Scoliosis, Broad thumb, Sub... |
ORPHA:109 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Abscess, Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis, ... |
ORPHA:36234 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:83469 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Then... |
ORPHA:2463 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Abnormal bleeding, Decreased muscle mass, Thoracic scoliosis, Thora... |
ORPHA:1900 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ... |
ORPHA:169105 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:231111 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Caroli Syndrome |
|
Abnormal bleeding, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertens... |
ORPHA:480520 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Chorea, Ragged-red muscle fibers, Dilated cardiomyopathy, Low plasma citrul... |
ORPHA:255210 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis, Increased circulating surfactant protein level |
ORPHA:2257 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Ragged-red muscle fibers, Babinski s... |
OMIM:252010 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Vocal cord... |
ORPHA:99956 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Increased mean platelet vol... |
OMIM:616737 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia, Atrial sept... |
OMIM:105650 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Hypoplasia of the musculature, Anem... |
ORPHA:231214 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... |
ORPHA:811 |
Congenital Myopathy 17 |
|
Overlapping fingers, Overlapping toe, Failure to thrive in infancy, Tapered finger, Myopathy, Dis... |
OMIM:618975 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... |
OMIM:127550 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Congenital Heart Block |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:60041 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... |
ORPHA:116 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Proximal femoral epip... |
OMIM:162300 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos... |
ORPHA:404454 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, C... |
OMIM:608149 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell prolifer... |
OMIM:616433 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Limited mobility of proximal interpha... |
OMIM:222300 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ... |
ORPHA:244 |
Sanjad-Sakati Syndrome |
|
Small hand, Short foot, Myopathy, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Tremor, Abnormal bleeding, Hepatomegaly, A... |
ORPHA:355 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ... |
OMIM:615758 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se... |
ORPHA:124 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:613990 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal defect, Paten... |
OMIM:245600 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
OMIM:300863 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Hereditary Xanthinuria |
|
Myopathy, Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Noonan Syndrome |
|
Abnormal bleeding, Hepatomegaly, Abnormality of the spleen, Abnormality of the lymphatic system, ... |
ORPHA:648 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Erythema, Growth delay, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, ... |
ORPHA:51 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Tremor, Abnormal pyram... |
OMIM:612199 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short stature, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalce... |
ORPHA:79443 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-rea... |
ORPHA:90051 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Sialuria |
|
Hepatomegaly, Splenomegaly, 2-3 toe syndactyly, Poor fine motor coordination, Macroglossia, Scoli... |
OMIM:269921 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Ataxia, Cardio... |
OMIM:618143 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphal... |
OMIM:607015 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Hypoesthesia, Ragged-red muscle fibers... |
OMIM:603041 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circulating total IgM, Restrictive v... |
ORPHA:420741 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Myopathy, ... |
ORPHA:3042 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc... |
ORPHA:423 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Clonus, Cardiomegaly, Tetraplegia, Scoliosis, Spasticity |
ORPHA:3137 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinem... |
OMIM:251100 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:525731 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... |
ORPHA:36412 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Hepatomegaly, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Th... |
OMIM:613385 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly |
OMIM:619051 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... |
ORPHA:98813 |
Japanese Encephalitis |
|
Hyponatremia, Skeletal muscle atrophy, Neutrophilia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Card... |
OMIM:105210 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac... |
OMIM:607765 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoat... |
ORPHA:391428 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B ly... |
OMIM:300755 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital kyphoscoliosis, Bicuspid aortic valve, Arachnodactyly, Dextro... |
ORPHA:536545 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, ... |
OMIM:219800 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Petechiae, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Purpura |
OMIM:225750 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Petechiae, Cerebral hemorrhage, Ascites, Thrombocytopenia |
OMIM:617397 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Anemia, Inc... |
ORPHA:77261 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature |
OMIM:300887 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re... |
OMIM:617052 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymphocytosis,... |
ORPHA:1667 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... |
ORPHA:2020 |
Bresek Syndrome |
|
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Respiratory failure, Neonatal death, Pulmonar... |
OMIM:616482 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy |
ORPHA:90289 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Weakness of facial mu... |
OMIM:602668 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Myopath... |
OMIM:307030 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen... |
OMIM:600901 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... |
OMIM:256040 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Stromme Syndrome |
|
Accessory spleen, Myopathy, Preaxial polydactyly |
OMIM:243605 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, T... |
ORPHA:50918 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu... |
ORPHA:365 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... |
OMIM:620306 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level, Subcutaneous hemorrhage |
ORPHA:448237 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia, Purpura |
ORPHA:3204 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, T... |
OMIM:263700 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Dias... |
OMIM:253220 |
Sialuria |
|
Hepatomegaly, Prolonged prothrombin time, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Scoli... |
OMIM:610733 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla... |
ORPHA:171 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Failure to thriv... |
OMIM:239200 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of... |
ORPHA:261323 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Perianal abscess, Leukocytosis, Peritoni... |
ORPHA:2968 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:613154 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure, Bone marrow hypocellularity, Infection associated neutropenia,... |
ORPHA:445038 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen... |
OMIM:227650 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Leukopenia, Abnorma... |
ORPHA:1304 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomy... |
OMIM:300967 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis |
OMIM:612852 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Abscess, Chronic... |
ORPHA:125 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... |
ORPHA:33226 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Hepatomegaly... |
OMIM:614162 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ... |
ORPHA:646 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A... |
ORPHA:247598 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Lymphadenopathy |
ORPHA:654 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ne... |
ORPHA:391673 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Subconju... |
OMIM:617718 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Micromelia, Splenomegaly, Flared metaphysis, Vertebral hypopl... |
OMIM:602557 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Triphalangeal thumb, EMG: myopathic a... |
ORPHA:2549 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Megakaryocyte dysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone... |
ORPHA:508542 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Vexas Syndrome |
|
Macrocytic anemia, Megakaryocyte dysplasia, Thrombocytopenia |
OMIM:301054 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Double Outlet Right Ventricle |
|
Cyanosis, Short stature, Hypocalcemia |
ORPHA:3426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... |
ORPHA:93323 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Hemiplegia/hemiparesis... |
ORPHA:579 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis |
OMIM:614407 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Para... |
ORPHA:2072 |
1P36 Deletion Syndrome |
|
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the s... |
ORPHA:1606 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating... |
ORPHA:159 |
Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... |
ORPHA:781 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Leukocytosis, Dilated cardiomyopat... |
ORPHA:20 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Secund... |
OMIM:608779 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, P... |
OMIM:610505 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Avascular necrosis of the capital femoral... |
ORPHA:581 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Irritabilit... |
OMIM:615873 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Low plasma citrulline, Cyanosis |
OMIM:261680 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Small for gestational age, Elevated circulating creatine kinase concen... |
OMIM:618775 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin... |
OMIM:214950 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo... |
ORPHA:37042 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Metaphyseal ... |
OMIM:613320 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Right ... |
OMIM:616028 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia, Distal low... |
ORPHA:240094 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Ataxia-Telangiectasia |
|
Lymphopenia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech... |
OMIM:208900 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Prolonged prothrombin time, Thr... |
OMIM:212750 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger syndactyly, Pat... |
OMIM:603467 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature |
ORPHA:1867 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura |
OMIM:235400 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Hurler Syndrome |
|
Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Camptodactyly of finger, Abnormali... |
ORPHA:93473 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Elevated circulating C-reactive protein concentration, Excessive bleeding after a... |
ORPHA:319213 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenome... |
ORPHA:77293 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... |
OMIM:274150 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Jaundice, Flexion contracture, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia |
OMIM:608093 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Listeriosis |
|
Brain abscess, Pericarditis, Somatic sensory dysfunction, Ataxia, Liver abscess, Abscess, Tremor,... |
ORPHA:533 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal bleeding, Hepatomegaly, Abnormal ci... |
ORPHA:470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv... |
OMIM:619418 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocyt... |
ORPHA:71493 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, ... |
OMIM:227646 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Decreased circulating total IgM,... |
OMIM:612301 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin tim... |
ORPHA:30391 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure... |
OMIM:230900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Splenomegaly, Leukocytosis, Dilated cardiomyop... |
OMIM:615688 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... |
OMIM:120330 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr... |
OMIM:254900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis... |
ORPHA:391487 |
Tetrasomy 5P |
|
Postnatal growth retardation, Cyanosis |
ORPHA:3309 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Jaundice |
OMIM:616483 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Dy... |
ORPHA:340 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Patent ductus arteriosus, Kyphosis, Dysmetria, Supravalvar pulmonary stenosis, ... |
OMIM:620185 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus arteriosus, Fascicula... |
OMIM:620327 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Hypocalc... |
OMIM:601005 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leuk... |
ORPHA:32960 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli... |
OMIM:618056 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Micromelia, Congenital diaphragmatic hernia, Proximal placement of thu... |
OMIM:122470 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... |
OMIM:620072 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Respiratory ... |
OMIM:617248 |
Ivic Syndrome |
|
Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis, Radioulnar synost... |
ORPHA:2307 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Gait ataxia,... |
OMIM:257220 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:3378 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Abnormal circulating protein concentration |
ORPHA:747 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Ost... |
ORPHA:79277 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Rhabdomyosarcom... |
ORPHA:647 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... |
ORPHA:131 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hy... |
ORPHA:466650 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Increased circulating IgG level, Cholecystitis, Ecchymosis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilateral rad... |
OMIM:300514 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Flexion contracture, Spasticity, Clinodactyly of... |
OMIM:147791 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Stage 5 chronic kidney dise... |
OMIM:249100 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Thrombocytopenia |
OMIM:611126 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Lower limb spasticity, Foot joint contracture, Ataxia, Tremor, Scoliosis, Increased... |
ORPHA:90321 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet volume, Pat... |
ORPHA:487796 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... |
OMIM:312870 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Tremor, ... |
ORPHA:904 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... |
ORPHA:666 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... |
ORPHA:2137 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Impaired pain sensation, Kyphosis, Increased fe... |
OMIM:619005 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena... |
ORPHA:319251 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Prolonged prothrombin time, Macrovesicu... |
OMIM:613070 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Small ... |
OMIM:619573 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Somatic sensory dysfunction, Chronic active hepatitis, Chorea, Bilia... |
ORPHA:289390 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Growth delay, Cyanosis, Short stature, Delayed puberty |
ORPHA:2326 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Prolonged prothrom... |
OMIM:619525 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Increas... |
ORPHA:261250 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node ... |
OMIM:620233 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Jaundice, Dilated cardio... |
ORPHA:79282 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Lathosterolosis |
|
Hepatomegaly, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydactyly, Anisopoikiloc... |
ORPHA:46059 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Rhabdomyolysis, Ragged-r... |
OMIM:124000 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Lymphadenopathy, Leukopenia, ... |
ORPHA:536 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Jaundice, Rhabdomyolysis, Hepatitis, Retinal hemorrhage, Lymphadenopa... |
ORPHA:509 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Graft Versus Host Disease |
|
Hemophagocytosis, Irritability, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent ductus arteriosus, Cho... |
OMIM:614080 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus |
ORPHA:43116 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature |
OMIM:147250 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature |
ORPHA:2505 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:609053 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Chorea, Coombs-positive hemolytic anemia, Microangi... |
ORPHA:464343 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... |
ORPHA:1775 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time, Ascites, Cirrhosis, Jaundice |
OMIM:617049 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... |
ORPHA:29073 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Mitral valve calcification, Decreased body weight, Coxa valg... |
OMIM:182250 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary cirrhosis,... |
OMIM:613471 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Death in infancy, Cyanosis, Hypokalemia, Death in childhood |
OMIM:618426 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... |
OMIM:619991 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro... |
ORPHA:331235 |
Monosomy 18P |
|
Microphthalmia, Short stature |
ORPHA:1598 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Clonus, Elevated circulating creatine kinase concentration, Intraventr... |
OMIM:619055 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
Baraitser-Winter Syndrome 1 |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:243310 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Le... |
OMIM:615530 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Di... |
ORPHA:71212 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Tetralogy of Fallot, Scoliosis |
ORPHA:280200 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Kyphosis, Knee ... |
ORPHA:576 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:77298 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Tremor, Kyphosis, Chorea, Abnormal pyramidal sign, T... |
ORPHA:58 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Calcification of muscles, Hepatomegaly |
ORPHA:53715 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Ventricular septal defect,... |
ORPHA:163979 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy... |
ORPHA:2331 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ... |
ORPHA:2298 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Elevated circulating creatinine concentration |
OMIM:617478 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Short stature |
OMIM:602361 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia |
ORPHA:496641 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... |
OMIM:610199 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly... |
ORPHA:538 |
Yellow Fever |
|
Abnormal bleeding, Acute pancreatitis, Neutrophilia, Excessive bleeding after a venipuncture, Hem... |
ORPHA:99829 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele, Growth delay |
OMIM:614424 |
Poems Syndrome |
|
Pericardial effusion, Lymphadenopathy, Thrombocytosis, Polycythemia, Visceromegaly |
ORPHA:2905 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sandal gap, Rhabdomyosarcoma, 2-3 toe syndactyly, T lymphocytopenia,... |
OMIM:251260 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Short stature |
ORPHA:369891 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defect, Hepatoblast... |
ORPHA:373 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... |
OMIM:269200 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... |
ORPHA:97289 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Jaund... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Lowe... |
ORPHA:97297 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thumb, Atrial sept... |
ORPHA:84 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Hennekam Syndrome |
|
Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,... |
ORPHA:2136 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Nonproductive co... |
ORPHA:31204 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Inflammatory myopathy |
ORPHA:221 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Abnorm... |
ORPHA:235 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a... |
OMIM:617913 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Decreased muscle mass, Thymus hyperplasia, Macrodactyly, Cachex... |
ORPHA:744 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, ... |
ORPHA:2785 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Small for gestationa... |
ORPHA:84064 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachnodactyly, Abnormality of the ... |
ORPHA:567 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Ethylene Glycol Poisoning |
|
Cyanosis, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Cervical hemivertebrae, Impaired pain sensation... |
OMIM:619004 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Ecchymosis, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:980 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Acrocyanosis, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:223900 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Scorpion Envenomation |
|
Acute pancreatitis, Hemifacial spasm, Ataxia, Increased circulating NT-proBNP concentration, Trem... |
ORPHA:466677 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Splenomegaly, Abnormal pyramidal sig... |
ORPHA:117 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Abscess, Eosinophilia, Abnormality of the kidney, Abnormality ... |
ORPHA:228123 |
Dpagt1-Cdg |
|
Hepatomegaly, Arachnodactyly, Ataxia, Tremor, Flexion contracture, Intracranial hemorrhage, Hyper... |
ORPHA:86309 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia |
OMIM:616920 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Macular degeneration, Vesicoureteral reflux, Lympha... |
ORPHA:1571 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... |
ORPHA:90038 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ge... |
OMIM:269700 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Weight loss, Anemia, Neutropenia, Abnormal myocardium morphology, Pa... |
ORPHA:537 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal ... |
ORPHA:36426 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hemato... |
ORPHA:96168 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Lymphadenopathy, Weight loss, Abnormality of the extraocular ... |
ORPHA:79078 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly |
ORPHA:1333 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, N... |
ORPHA:342 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
OMIM:613451 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Short toe, An... |
ORPHA:2308 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Arthrogryposis multiplex congenita, ... |
ORPHA:163746 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Pulmonic stenosis, Hydronephrosis |
ORPHA:100078 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Generalized muscular appear... |
OMIM:608594 |
Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Eosinophilia, Thrombocytopenia, Increased T ... |
ORPHA:797 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100080 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly, Short stature |
OMIM:619148 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Short stature |
OMIM:612530 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia |
ORPHA:96191 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:3384 |
Familial Dysautonomia |
|
Growth delay, Hyponatremia, Acrocyanosis |
ORPHA:1764 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:139411 |
Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon... |
ORPHA:2839 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:251230 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:311250 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia |
OMIM:613658 |
Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the kidney, Renal insufficiency, Eosinophilia, Lymphadenopathy |
ORPHA:449432 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... |
OMIM:305000 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:2886 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pneumonia, Dy... |
ORPHA:544482 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:193 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroi... |
ORPHA:95159 |
Mosaic Trisomy 9 |
|
Microphthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:99776 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Clonus, Hypoammonemia, Thrombocytopenia, Kyphosis, Genu valgum, Hypokalemia, Platys... |
ORPHA:534 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Palpable purpura, Cutis marmorata, Elevated circulati... |
ORPHA:48435 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... |
ORPHA:3380 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:617729 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100082 |
Martsolf Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:212720 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v... |
ORPHA:100075 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Arachnodactyly, Subarachnoid hemorrhage, Cardiomegaly, Patent ductus arter... |
ORPHA:91387 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Microphthalmia, Rhizomelia |
OMIM:302960 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Cyanosis, Short stature, Hyperlipidemia, Hyperkalemia, Delayed puberty |
ORPHA:293987 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula... |
OMIM:163950 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Anemia |
ORPHA:79404 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature |
OMIM:115470 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:251300 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure |
OMIM:300868 |
Digeorge Syndrome |
|
Ventricular septal defect, Splenomegaly, Thrombocytopenia, Patent ductus arteriosus, Obesity, Hem... |
OMIM:188400 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature |
OMIM:601675 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Defective production of NFKB1-dependent cytokines |
OMIM:612132 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Bicuspid aortic valve, Mitral atresia, Ataxia, Small for gestational age, Increased hep... |
OMIM:220111 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Tremor, Splenomegaly... |
ORPHA:667 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Esophageal Atresia |
|
Growth delay, Cyanosis |
ORPHA:1199 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
Pitt-Hopkins Syndrome |
|
Growth delay, Acrocyanosis, Postnatal growth retardation |
ORPHA:2896 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... |
ORPHA:556 |
Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus |
OMIM:617666 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Neoplasm of the thymus, Leukocytosis, Depression, Memory impair... |
ORPHA:99889 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature |
ORPHA:464 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:364577 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Aspartylglucosaminuria |
|
Hepatomegaly, Abnormal morphology of ulna, Splenomegaly, Macroglossia, Anterior beaking of lumbar... |
ORPHA:93 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Pulmonary a... |
ORPHA:96334 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Short stature, Unilateral microphthalmos |
OMIM:618874 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Proportionate short stature, Spina bifida |
OMIM:234100 |
Myhre Syndrome |
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Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
Fanconi Anemia, Complementation Group L |
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Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Steinert Myotonic Dystrophy |
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Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Microphthalmia, Rhizomelia |
OMIM:616300 |
Histiocytoid Cardiomyopathy |
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Cyanosis |
ORPHA:137675 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Respiratory failure, Decreased circulating IgG level, Secretory IgA deficiency, Emphysema |
ORPHA:500150 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
8Q21.11 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:284160 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microphthalmia |
OMIM:618727 |
Momo Syndrome |
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Bilateral microphthalmos, Short stature |
ORPHA:2563 |
Pallister-Hall Syndrome |
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Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:146510 |
Holoprosencephaly |
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Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia |
ORPHA:2162 |
Congenital Tracheomalacia |
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Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... |
ORPHA:95430 |
3Q29 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:65286 |
Atrial Septal Defect, Coronary Sinus Type |
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Cyanosis |
ORPHA:99104 |
Mosaic Trisomy 1 |
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Microphthalmia |
ORPHA:1692 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia, Short stature |
ORPHA:251014 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Linear Nevus Sebaceus Syndrome |
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Growth delay, Microphthalmia |
ORPHA:2612 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... |
OMIM:181000 |
Costello Syndrome |
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Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency |
OMIM:218040 |
Mosaic Variegated Aneuploidy Syndrome |
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Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1052 |
Primary Hyperoxaluria |
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Hyperoxaluria, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2556 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymp... |
ORPHA:90340 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Short stature |
OMIM:272950 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Retina... |
ORPHA:51608 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
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Generalized lymphadenopathy |
OMIM:620232 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microphthalmia |
ORPHA:464738 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Short stature |
OMIM:201180 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Monosomy 13Q14 |
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Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia, Short stature |
OMIM:308300 |
Fryns Syndrome |
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Microphthalmia |
ORPHA:2059 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Spina bifida |
OMIM:109400 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Premature Aging Syndrome, Penttinen Type |
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Microphthalmia |
OMIM:601812 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Meckel Syndrome |
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Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Trichothiodystrophy |
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Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation |
ORPHA:33364 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:249000 |
Atrial Septal Defect, Ostium Secundum Type |
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Cyanosis |
ORPHA:99103 |
Cockayne Syndrome B |
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Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... |
OMIM:133540 |
Igg4-Related Ophthalmic Disease |
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Abnormality of the kidney, Eosinophilia, Lymphadenopathy |
ORPHA:449563 |
Acro-Renal-Ocular Syndrome |
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Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Cyanosis, Delayed menarche, Premature skin wrinkling, Genera... |
ORPHA:740 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Chromosome 13Q14 Deletion Syndrome |
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Growth delay, Microphthalmia, Umbilical hernia |
OMIM:613884 |
Eisenmenger Syndrome |
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Cyanosis, Elevated circulating C-reactive protein concentration, Hypoxemia, Hyperuricemia, Abnorm... |
ORPHA:97214 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure |
ORPHA:805 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616975 |
Unilateral Polymicrogyria |
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Cyanosis |
ORPHA:268943 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Treacher-Collins Syndrome |
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Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine... |
OMIM:256520 |
Aicardi Syndrome |
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Postnatal growth retardation, Microphthalmia, Spina bifida |
OMIM:304050 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia |
OMIM:153400 |
African Trypanosomiasis |
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Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Splenomegaly, Myocarditis,... |
ORPHA:3385 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610829 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Respiratory failure |
ORPHA:2636 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:620186 |
Plague |
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Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node, Depressi... |
ORPHA:707 |
Microgastria-Limb Reduction Defect Syndrome |
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Growth delay, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Bartsocas-Papas Syndrome 1 |
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Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
Rothmund-Thomson Syndrome, Type 2 |
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Microphthalmia, Short stature |
OMIM:268400 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
Otopalatodigital Syndrome, Type Ii |
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Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature |
ORPHA:2108 |
Holoprosencephaly 7 |
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Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Severe short stature, Anophthalmia |
ORPHA:2526 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Microphthalmia, Short stature |
OMIM:309801 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
Chikungunya |
|
Depression, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Short stature, True anophthalmia |
ORPHA:1106 |
Aicardi Syndrome |
|
Microphthalmia, Delayed puberty |
ORPHA:50 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... |
ORPHA:468631 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Fontaine Progeroid Syndrome |
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Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation |
OMIM:612289 |
Charge Syndrome |
|
Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra... |
ORPHA:138 |
Mend Syndrome |
|
Microphthalmia, Short stature |
ORPHA:401973 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:608670 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Mild postnatal growth retardation |
ORPHA:90324 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Cockayne Syndrome |
|
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia |
ORPHA:191 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ... |
OMIM:305600 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Degcags Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:619488 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Short stature, Cutis marmorata |
OMIM:303600 |
Goodpasture Syndrome |
|
Cyanosis, Increased blood urea nitrogen |
OMIM:233450 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Intrauterine growth retardation |
OMIM:236680 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:613406 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... |
ORPHA:508488 |
Charge Syndrome |
|
Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Umbilical hernia, Delayed ... |
OMIM:214800 |
Renpenning Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:309500 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... |
OMIM:113620 |
Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
Pallister-Hall Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation |
ORPHA:672 |
Holoprosencephaly 1 |
|
Microphthalmia, Short stature |
OMIM:236100 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Microphthalmia, Frontal encephalocele, Severe intrauterine growth r... |
OMIM:268300 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Short stature |
OMIM:235730 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Townes-Brocks Syndrome |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Mowat-Wilson Syndrome |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Short stature |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Short stature |
ORPHA:261552 |
Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |