| Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
| Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
| Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Carcinoid tumor, Neurofibromas, Pheochromocytoma |
OMIM:162240 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
| Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Cutaneous angiolipomas, Chemodectoma, Retroperitoneal chemodectomas |
OMIM:118350 |
| Schwannomatosis 1 |
|
Schwannoma, Spinal cord tumor, Meningioma |
OMIM:162091 |
| Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
| Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
| Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
| Paragangliomas 5 |
|
Paraganglioma |
OMIM:614165 |
| Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:614915 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... |
ORPHA:90039 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... |
ORPHA:219 |
| Miyoshi Myopathy |
|
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... |
ORPHA:45448 |
| Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... |
OMIM:168000 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Paragangliomas 3 |
|
Glomus jugular tumor, Neoplasm, Extraadrenal pheochromocytoma, Elevated circulating catecholamine... |
OMIM:605373 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:600794 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cerebellar vermis hypoplasia, Cataract, Dandy-Walker malformation |
ORPHA:73245 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... |
ORPHA:482601 |
| Paragangliomas 4 |
|
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... |
OMIM:115310 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Cataract |
ORPHA:1397 |
| Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
| Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:601472 |
| Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... |
ORPHA:1332 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Reduced vital capacity, Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, D... |
OMIM:607088 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Myxoid s... |
OMIM:160980 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
| Prostate Cancer/Brain Cancer Susceptibility |
|
Neoplasm of the central nervous system, Prostate cancer |
OMIM:603688 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy |
OMIM:614881 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Diencephalic Syndrome |
|
Cachexia, Neoplasm of the nervous system, Decreased body weight |
ORPHA:1672 |
| Carcinoma Of Esophagus |
|
Esophageal neoplasm, Weight loss, Obesity, Barrett esophagus |
ORPHA:70482 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Paragangliomas 2 |
|
Glomus jugular tumor, Neoplasm, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma |
OMIM:601650 |
| Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... |
OMIM:612335 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
| Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
| Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
| Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Anemia |
OMIM:615234 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb amyotrophy |
OMIM:617046 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy |
OMIM:619099 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Bladder Cancer |
|
Bladder neoplasm, Transitional cell carcinoma of the bladder |
OMIM:109800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:616280 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Esophageal carcinoma, Barrett esophagus |
ORPHA:99976 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... |
OMIM:171400 |
| Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Death in childhood, Respiratory insufficiency, Spinal mu... |
OMIM:253300 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Cerebellar atrophy |
OMIM:617133 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Poikilocytosis, Reti... |
OMIM:615631 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Confusion, Paroxysmal lethargy, Choreoathetosis, Lethargy |
OMIM:606777 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Cachexia, Neo... |
ORPHA:83469 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy |
OMIM:182980 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss |
ORPHA:52416 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... |
ORPHA:2596 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
| Turcot Syndrome With Polyposis |
|
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... |
OMIM:619519 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Facial ... |
OMIM:607641 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
| Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Increased glucagon level, Glucagonoma, Neoplasm of the pancreas |
ORPHA:438274 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... |
ORPHA:652 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy |
OMIM:183020 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Peripheral primitive neuroectodermal neoplasm, Uterin... |
ORPHA:370348 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97261 |
| Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... |
ORPHA:86812 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal o... |
ORPHA:139411 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Overgrowth, Increased body weight, Increased circulating gonadotropin lev... |
ORPHA:759 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Choreoathetosis, Lethargy, Athetosis |
OMIM:130950 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
| Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary arterial hyp... |
OMIM:619751 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Type 2 muscle fiber atrophy, Limb muscle weakness, Apneic episodes precipit... |
OMIM:605809 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract, Hepatomegaly |
ORPHA:79281 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy |
OMIM:615043 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Pheochromocytoma |
|
Hemangioma, Neoplasm, Pheochromocytoma |
OMIM:171300 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Lower limb muscle weakness, Spinal muscu... |
OMIM:253400 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... |
ORPHA:145 |
| Immunodeficiency 61 |
|
Obesity, Colon cancer |
OMIM:300310 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:171706 |
| Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Neurofibromatosis, Type I |
|
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... |
OMIM:162200 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight loss, Neoplasm of the larynx |
ORPHA:100083 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Lethargy |
OMIM:618224 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:615048 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Pallo... |
ORPHA:75564 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... |
OMIM:620011 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Cryptorchidism |
ORPHA:85274 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromo... |
ORPHA:276621 |
| Elliptocytosis 1 |
|
Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly |
OMIM:611804 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity |
OMIM:617760 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Distal amyotrophy |
OMIM:610250 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... |
OMIM:619042 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Thenar muscle ... |
ORPHA:139536 |
| Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
| Myosclerosis, Autosomal Recessive |
|
Facial palsy, Skeletal muscle atrophy, Achilles tendon contracture, Reduced forced vital capacity |
OMIM:255600 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Cranial nerve compression, Paraganglioma of head and neck, Paraganglio... |
ORPHA:29072 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Lethargy |
OMIM:617829 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy |
ORPHA:401805 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... |
OMIM:615575 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal amyotrophy, Pro... |
OMIM:600175 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... |
OMIM:609285 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Cronkhite-Canada Syndrome |
|
Neoplasm, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Intestinal polyposis, Colon cance... |
ORPHA:2930 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Respiratory insufficie... |
OMIM:614399 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
| Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Cerebellar atrophy |
OMIM:618093 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... |
ORPHA:97244 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Ganglioneurom... |
OMIM:162300 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Kyphosis, Scoliosis |
OMIM:617087 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... |
ORPHA:352479 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Respiratory in... |
OMIM:300696 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Distal amyotrophy, Scapuloperoneal amyotr... |
OMIM:611067 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Cataract, Weight loss, Jaundice |
ORPHA:79238 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy, Abnormal testis morphology |
ORPHA:2074 |
| Tuberous Sclerosis Complex |
|
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
| Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Neuroma, Neoplasm of the liver, Parathyroid adenoma, Elevated circul... |
ORPHA:653 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Cryptorchidism, Weakness... |
ORPHA:1145 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... |
ORPHA:846 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Optic nerve hypoplasia, Occipital encephalocele, M... |
ORPHA:370959 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Distal lower limb... |
OMIM:613287 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Weakness of facial musculature, Respiratory insufficiency, Spinal muscular ... |
ORPHA:254875 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... |
OMIM:266200 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Increased nuchal... |
ORPHA:295 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy |
OMIM:617065 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... |
OMIM:608358 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphol... |
ORPHA:3032 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:607678 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... |
ORPHA:71526 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Limb-girdle muscle weakness, Exertional dyspnea, Facial palsy, Generalized amyotrophy, Obstructiv... |
OMIM:615156 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... |
ORPHA:2123 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Foo... |
ORPHA:101077 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss |
ORPHA:86893 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Respiratory insufficiency, Lower ... |
ORPHA:90103 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Lower limb... |
ORPHA:1143 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
| Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Cryptorchidism, Decreased testicular size, Truncal obesity |
ORPHA:261483 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Oculogyric crisis, Limb dystonia, Focal dystonia, Postural tremor, Lethargy, Genera... |
ORPHA:101150 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Generalized amyotrophy, Flexion contracture, Respiratory insuffici... |
OMIM:613205 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220220 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Confusion, Dystonia, Lethargy |
ORPHA:71277 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Neuroblastoma, Susceptibility To, 2 |
|
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma |
OMIM:613013 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Proximal amyotrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:616040 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... |
OMIM:605355 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Drowsiness, Coma, Lethargy |
ORPHA:276608 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Chronic myelogenous leukemia, Precocious puberty, Plexiform ... |
ORPHA:636 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Nemaline Myopathy 2 |
|
Apnea, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:256030 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Respiratory insufficiency, Upper limb muscle weakness, Distal amyotrophy |
OMIM:605253 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shoulder girdle mus... |
OMIM:158900 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:611225 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Pallor, Microcytic anemia, Skin ulcer, Anemia, Thrombocytopenia |
ORPHA:848 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
| Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
| Christianson Syndrome |
|
Cachexia, Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy |
ORPHA:85278 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Absent eyelashes, Distal amyotrophy |
OMIM:182815 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... |
OMIM:614831 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus, Neonatal death, Lethargy |
OMIM:610498 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:302801 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Proximal amyotrophy, Muscular dystrophy |
OMIM:612999 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis |
OMIM:601820 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness |
OMIM:300816 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
| N-Acetylglutamate Synthase Deficiency |
|
Coma, Lethargy, Confusion |
OMIM:237310 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Cerebellar hypoplasia, Pancytopenia, Thrombocytopenia... |
OMIM:613839 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Decreased response to g... |
OMIM:609734 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Distal amyotrophy |
OMIM:614751 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Decreased liver function, Dysgenesis of the cerebellar vermis, Iris hypopigmen... |
ORPHA:67048 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... |
OMIM:619178 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, EMG: myopathic abnorma... |
ORPHA:98913 |
| Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Biventricular hypertrophy, ... |
ORPHA:101028 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Lethargy |
ORPHA:26792 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Skeletal muscle atrophy |
ORPHA:3294 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Abnormality of mesen... |
ORPHA:93941 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:607677 |
| Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Respiratory insufficiency, Muscular dystrophy, Myofibrillar myopath... |
OMIM:612954 |
| Primary Myelofibrosis |
|
Petechiae, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepatosplenomegaly, ... |
ORPHA:824 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Dystonia, Lethargy |
OMIM:312170 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Myopathy, Spheroid Body |
|
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar ... |
OMIM:617751 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Premature graying of hair... |
OMIM:619903 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy |
OMIM:605589 |
| Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Myasthenic Syndrome, Congenital, 10 |
|
Reduced vital capacity, Weakness of facial musculature, Distal amyotrophy, Respiratory insufficie... |
OMIM:254300 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:608807 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Dista... |
OMIM:618184 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:163596 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Lethargy |
OMIM:246900 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| 17Q11 Microdeletion Syndrome |
|
Optic nerve glioma, Gastrointestinal stroma tumor, Elevated circulating parathyroid hormone level... |
ORPHA:97685 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Choreoathetosis, Dystonia, Lethargy |
OMIM:233910 |
| Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Small for gestational age |
OMIM:212540 |
| Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... |
ORPHA:98870 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... |
OMIM:160565 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Brain atrophy, Severe postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypoplas... |
ORPHA:3078 |
| Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
| Glycine Encephalopathy |
|
Lethargy |
OMIM:605899 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Papil... |
ORPHA:892 |
| Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
| Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... |
OMIM:613313 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Cataract, Cerebellar hypoplasia |
OMIM:613730 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
| Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss |
ORPHA:98293 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Fl... |
OMIM:301830 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Cholestasis, Cataract |
ORPHA:570422 |
| Nemaline Myopathy 10 |
|
Flexion contracture, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy, R... |
OMIM:616165 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:619054 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Failure to thrive, Iris coloboma, Facial hemangioma, Cataract |
ORPHA:171860 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Cerebellar hypoplasia, Elevated circulating alanine aminotransferase ... |
OMIM:618805 |
| Ollier Disease |
|
Anemia, Abnormal cartilage morphology, Multiple enchondromatosis |
ORPHA:296 |
| Leishmaniasis |
|
Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Skin ulcer, Anemi... |
ORPHA:507 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Hypertrichosis, Acute infantile spinal muscular atrophy, Flexion contractur... |
OMIM:271225 |
| Renpenning Syndrome |
|
Cachexia, Iris coloboma, Cataract, Decreased testicular size |
ORPHA:3242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypertrichosis, Skeletal muscle atrophy |
OMIM:618244 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Short stature, Dilated fourth ventricle, Diffuse cerebral atrophy, Cer... |
ORPHA:1170 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... |
OMIM:619334 |
| Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Cerebellar atrophy |
OMIM:618186 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Cryptorchidism |
OMIM:615982 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Upper limb muscle weakness, Distal amyotrophy |
OMIM:608323 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of the cerebe... |
ORPHA:2585 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:605726 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Nodul... |
ORPHA:142 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Di... |
ORPHA:357058 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Proximal muscle weakness in lower limbs, Lower limb amyotrophy, Lower limb muscl... |
OMIM:615290 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... |
ORPHA:276152 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy |
OMIM:613670 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Scapular winging, Proximal amyotrophy |
OMIM:601287 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Cataract, Developmental cataract, Cerebellar atrophy |
OMIM:614482 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Malformation of the hepatic ductal plate, Anence... |
OMIM:614175 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity |
OMIM:617119 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Diamond-Blackfan Anemia 9 |
|
Anemia, Webbed neck |
OMIM:613308 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... |
ORPHA:454840 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Calf muscle hypertrophy, Respiratory insufficiency, EMG: myopathic abnormalities, Limb-girdle mus... |
OMIM:255160 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
