| Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
| Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
| Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Carcinoid tumor, Pheochromocytoma, Neurofibromas |
OMIM:162240 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:611369 |
| Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Chemodectoma, Cutaneous angiolipomas, Retroperitoneal chemodectomas |
OMIM:118350 |
| 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 |
| Schwannomatosis 2 |
|
Spinal cord tumor, Schwannoma |
OMIM:615670 |
| Schwannomatosis 1 |
|
Spinal cord tumor, Schwannoma, Meningioma |
OMIM:162091 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, M... |
OMIM:614915 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy |
OMIM:271220 |
| Muscular Atrophy, Malignant Neurogenic |
|
Respiratory paralysis, Skeletal muscle atrophy |
OMIM:158650 |
| Familial Adenomatous Polyposis 3 |
|
Breast carcinoma, Neoplasm of the skin, Meningioma, Bladder neoplasm |
OMIM:616415 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... |
ORPHA:219 |
| Miyoshi Myopathy |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... |
ORPHA:45448 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... |
OMIM:168000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly |
ORPHA:46532 |
| Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Neoplasm, Chemodectoma, Elevated circula... |
OMIM:605373 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:600794 |
| Subependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... |
ORPHA:251639 |
| Ependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... |
ORPHA:251636 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Cataract |
ORPHA:73245 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Cataract |
ORPHA:1397 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... |
ORPHA:482601 |
| Paragangliomas 4 |
|
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... |
OMIM:115310 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:601472 |
| Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Pituitary adenoma, Schwannoma,... |
OMIM:160980 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, E... |
ORPHA:1332 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Interosseus muscle atrophy, Reduced vital capacity, Distal amyotrophy, Distal lower limb muscle w... |
OMIM:607088 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
| Prostate Cancer/Brain Cancer Susceptibility |
|
Prostate cancer, Neoplasm of the central nervous system |
OMIM:603688 |
| Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... |
ORPHA:524 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy |
OMIM:614881 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atroph... |
ORPHA:178464 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Polyglucosan Body Myopathy 2 |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness |
OMIM:616199 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight |
ORPHA:1672 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Paragangliomas 2 |
|
Glomus tympanicum paraganglioma, Neoplasm, Chemodectoma, Vagal paraganglioma, Glomus jugular tumor |
OMIM:601650 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy |
OMIM:615025 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Carcinoma Of Esophagus |
|
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm |
ORPHA:70482 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
| 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 |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell c... |
OMIM:193300 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
OMIM:270685 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
OMIM:612335 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... |
ORPHA:447877 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:615234 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
| Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy |
OMIM:619099 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb amyotrophy |
OMIM:617046 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity |
OMIM:618160 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Thyroid C ce... |
OMIM:171400 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
| Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
| Pulmonary Blastoma |
|
Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:608323 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Obesity, Esophageal carcinoma |
ORPHA:99976 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... |
OMIM:615631 |
| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:613376 |
| Glioma Susceptibility 3 |
|
Astrocytoma, Medulloblastoma, Glioblastoma multiforme |
OMIM:613029 |
| Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... |
OMIM:614065 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Cataract |
OMIM:617133 |
| Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
| Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Respirat... |
OMIM:253300 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Respiratory insufficie... |
OMIM:158810 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:147630 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
| Tumor Predisposition Syndrome |
|
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma |
OMIM:614327 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... |
ORPHA:79501 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
| Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Weight ... |
ORPHA:83469 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma |
ORPHA:52416 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Facial palsy, Distal amyotrophy, Lower limb muscle weakness, Hand muscle at... |
OMIM:607641 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Astrocytoma, Cholangiocarcinoma, Goiter, Adenomatous colonic polypos... |
ORPHA:733 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... |
OMIM:619519 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Bladder Cancer |
|
Transitional cell carcinoma of the bladder |
OMIM:109800 |
| Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Glucagonoma, Neoplasm of the pancreas, Cholelithiasis |
ORPHA:438274 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Soft tissue sarcoma |
ORPHA:2023 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2 muscle fi... |
OMIM:254210 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
| Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased circulating cortisol leve... |
ORPHA:652 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy |
OMIM:606777 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Weight loss, Brain neoplasm, Neoplasm of the pancreas, Peripheral primitive neu... |
ORPHA:370348 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Grfoma |
|
Adrenocortical adenoma, Zollinger-Ellison syndrome, Neoplasm of the lung, Pheochromocytoma, Neopl... |
ORPHA:97261 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
| Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Para... |
ORPHA:139411 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Left... |
ORPHA:86812 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... |
OMIM:604286 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... |
OMIM:300695 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, Respiratory failure, Spi... |
OMIM:616081 |
| Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2... |
OMIM:605809 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Central Precocious Puberty |
|
Overgrowth, Hypothalamic hamartoma, Increased circulating gonadotropin level, Obesity, Increased ... |
ORPHA:759 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Lethargy |
ORPHA:79283 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy |
OMIM:615043 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Primary peritoneal carcinoma, Prost... |
ORPHA:145 |
| Immunodeficiency 61 |
|
Obesity, Colon cancer |
OMIM:300310 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:171706 |
| Neurofibromatosis, Type I |
|
Pheochromocytoma, Astrocytoma, Plexiform neurofibroma, Meningioma, Rhabdomyosarcoma, Spinal neuro... |
OMIM:162200 |
| Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... |
ORPHA:157798 |
| Neuronopathy, Distal Hereditary Motor, Type I |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:182960 |
| Pheochromocytoma |
|
Hemangioma, Pheochromocytoma, Neoplasm |
OMIM:171300 |
| Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build |
OMIM:613662 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Facial palsy, Reduced forced vital capacity... |
OMIM:255600 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss, Adrenocorticotropic hormone excess, Neoplasm of the larynx |
ORPHA:100083 |
| Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... |
OMIM:220200 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, T... |
OMIM:300580 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Spinal Muscular Atrophy, Jokela Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy, Calf muscle hypertrophy |
OMIM:615048 |
| Familial Multinodular Goiter |
|
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Ataxia, Lethargy |
OMIM:618224 |
| Elliptocytosis 1 |
|
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Cryptorchidism |
ORPHA:85274 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... |
ORPHA:276621 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Rimmed vacuoles, Reduced vital capacity |
OMIM:617760 |
| Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
ORPHA:139536 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy |
OMIM:182980 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Dista... |
OMIM:619042 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
| Pleuropulmonary Blastoma |
|
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:601200 |
| Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions |
ORPHA:137935 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... |
OMIM:610755 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary hemangioma, Renal cell... |
ORPHA:29072 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy |
ORPHA:401805 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Triceps weakness, Weakness of the intrinsic hand muscles, Spinal muscular atrophy, Lower limb mus... |
OMIM:615575 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, Respiratory dis... |
ORPHA:254864 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
| Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Reduced vita... |
OMIM:609285 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, ... |
ORPHA:370959 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Camptodactyly... |
OMIM:614399 |
| Hyperostosis Frontalis Interna |
|
Obesity, Increased circulating prolactin concentration |
OMIM:144800 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
| Lung Cancer |
|
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma |
OMIM:211980 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... |
ORPHA:352479 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Lethargy |
ORPHA:622 |
| Rigid Spine Syndrome |
|
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Pneumonia, Hip contracture, Hamstri... |
ORPHA:97244 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Lethargy |
OMIM:613710 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Neoplasm, Splenomegaly, Intes... |
ORPHA:2930 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculo... |
ORPHA:101150 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis |
OMIM:617087 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Ganglioneuroma, Parathyroid hyp... |
OMIM:162300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypertrichosis, Skeletal muscle atrophy |
OMIM:618244 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Cerebellar atrophy |
OMIM:618093 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... |
OMIM:619216 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scapuloperoneal amyotrophy, Respiratory insufficiency due to muscle weakness, Joint contracture o... |
OMIM:611067 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Partial absence of cerebellar vermis, Posterior embryotoxon, Agenesis ... |
OMIM:220220 |
| Gemignani Syndrome |
|
Abnormal testis morphology, Skeletal muscle atrophy |
ORPHA:2074 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Jaundice |
ORPHA:79238 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... |
ORPHA:254875 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Zollinger-Ellison syndrome, Adenoma sebaceum, Increased circulating corti... |
OMIM:131100 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Subepend... |
ORPHA:805 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Neoplasm of the lung, Neoplasm ... |
ORPHA:653 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Obstructive sleep apnea, Facial palsy, Generalized amyotrophy, Exertional dyspnea, Limb-girdle mu... |
OMIM:615156 |
| Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Cerebellar hypoplasia, Cerebral atrophy, Pancytopenia, Thromb... |
OMIM:613839 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... |
ORPHA:295 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Premature ovarian insufficiency, Cryptorchidism, Decreased te... |
ORPHA:261483 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Lethargy |
ORPHA:26 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy |
OMIM:607678 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalopathy, Peri... |
OMIM:615889 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Cerebral atrophy, Sea-blue histiocytosis, Ventriculomegaly |
OMIM:230600 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Ascites, Anemia, Patent ductus arteriosus, Polyhydramnios, Thrombocytopenia, Hydrop... |
ORPHA:2123 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Respiratory insuff... |
OMIM:605355 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Hand muscle weakness, Distal upper limb amyotrophy, Dist... |
ORPHA:101077 |
| Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Upper limb amyotrophy, Respiratory insufficiency, Calf muscle hypoplasia, Distal lower limb amyot... |
ORPHA:90103 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Flexion contracture, Co... |
OMIM:613205 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Pituitary hypothyroidism, Gonadotropin deficiency, Obesity, Decreased response... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Pituitary hypothyroidism, Gonadotropin deficiency, Obesity, Decreased response... |
ORPHA:71526 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Nphp3-Related Meckel-Like Syndrome |
|
Dandy-Walker malformation, Abnormal liver parenchyma morphology, Abnormal biliary tract morpholog... |
ORPHA:3032 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... |
ORPHA:636 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma |
ORPHA:86893 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... |
OMIM:617751 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Respiratory insufficiency, Distal amyotrophy |
OMIM:605253 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Respiratory insufficiency du... |
ORPHA:1143 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoul... |
OMIM:158900 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Proximal amyotrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:616040 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Coma, Drowsiness, Lethargy |
ORPHA:276608 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy |
OMIM:618184 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia, Pallor, Skin ulcer |
ORPHA:848 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:610250 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Absent eyelashes, Distal amyotrophy |
OMIM:182815 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:611225 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus, Lethargy |
OMIM:610498 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... |
ORPHA:2140 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency |
OMIM:612999 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cachexia, Cerebellar atrophy |
ORPHA:85278 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy |
OMIM:302801 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Jaundice |
OMIM:603552 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
| N-Acetylglutamate Synthase Deficiency |
|
Coma, Confusion, Lethargy |
OMIM:237310 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal amyotrophy |
OMIM:158580 |
| Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Pituitary ... |
ORPHA:97289 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Inferior vermis hypoplasia, Retrocer... |
OMIM:614831 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Lethargy, Truncal ataxia, Intention tremor |
OMIM:130950 |
| Myasthenic Syndrome, Congenital, 10 |
|
Proximal amyotrophy, Respiratory insufficiency due to muscle weakness, Facial palsy, Distal amyot... |
OMIM:254300 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
| Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:253550 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Dysgenesis of the cerebellar vermis, Failure to thrive, Decreased liver function, Iris hypopigmen... |
ORPHA:67048 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... |
ORPHA:264675 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Distal amyotrophy |
OMIM:614751 |
| Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Dystonia, Ataxia, Lethargy |
ORPHA:71277 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... |
ORPHA:98913 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... |
ORPHA:254361 |
| Myopathy, Myofibrillar, 6 |
|
Respiratory insufficiency, Facial palsy, Generalized amyotrophy, Knee flexion contracture, EMG: m... |
OMIM:612954 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Death in childhood |
OMIM:615597 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:607677 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... |
ORPHA:91359 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
| Dermatitis, Atopic |
|
Cataract, Facial erythema, Dry skin, Pallor, Keratoconus, Conjunctivitis |
OMIM:603165 |
| Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
| Spinal Muscular Atrophy, Type Iv |
|
Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271150 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal lower motor ne... |
ORPHA:93941 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Obesity, Decreased response to growth hormone stimulation test, Adrenoco... |
OMIM:609734 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
| Cubitus Valgus With Mental Retardation And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Po... |
ORPHA:824 |
| Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy |
OMIM:182920 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Edema, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial septal defect, Th... |
ORPHA:101028 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... |
OMIM:245590 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Anemia, Hydrops fetalis |
OMIM:236750 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities |
OMIM:608807 |
| Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Respiratory insufficiency due... |
ORPHA:98902 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy |
OMIM:605589 |
| Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Optic atrophy, Severe postnatal growth retardation, Dilated fourth ven... |
ORPHA:3078 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Cerebellar atrophy, Optic atrophy, Cerebral atrophy |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:607731 |
| Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Tremor, Inability to walk, Generalized dystonia, Oculog... |
ORPHA:255 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Intrauterine growth retardation, Dilated fo... |
ORPHA:572798 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenomegaly, Abnormal mac... |
ORPHA:2585 |
| 17Q11 Microdeletion Syndrome |
|
Plexiform neurofibroma, Optic nerve glioma, Leukemia, Brain neoplasm, Cerebellar glioma, Brainste... |
ORPHA:97685 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:613287 |
| Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Small for gestational age |
OMIM:212540 |
| Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion |
ORPHA:50251 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Cerebellar vermis atrophy, Diffuse c... |
ORPHA:1170 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Respiratory insufficiency, Weakness o... |
OMIM:160565 |
| Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... |
ORPHA:1302 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Lethargy |
OMIM:246900 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Pal... |
ORPHA:1959 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial pal... |
OMIM:301830 |
| Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cy... |
ORPHA:892 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Cataract, Cerebellar hypoplasia |
OMIM:613730 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Lethargy |
OMIM:618225 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:613313 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogr... |
OMIM:616165 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress, Hirsutism, Flexion contracture |
OMIM:618006 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cataract, Cholestasis |
ORPHA:570422 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ab... |
OMIM:615960 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress, Respiratory failure, Cough |
OMIM:263000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy |
OMIM:619054 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Failure to thrive, Facial hemangioma, Cataract, Iris coloboma |
ORPHA:171860 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Muscular dystrophy, Muscle fib... |
OMIM:253700 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Neoplasm, Lymphoma, Splenomegaly |
ORPHA:98293 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Lethargy |
ORPHA:26792 |
| Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Premature ovarian insufficiency |
OMIM:618124 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Ollier Disease |
|
Abnormal cartilage morphology, Anemia, Multiple enchondromatosis |
ORPHA:296 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Hypertrichosis, Generalized amyotrophy, Respiratory distress, Flexion cont... |
OMIM:271225 |
| Spinal Muscular Atrophy, Type Iii |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:253400 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... |
ORPHA:90003 |
| Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia,... |
ORPHA:507 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dandy-Walker malformation, Dysplastic corpus callosum, Intrauterine growth retardation, Dilated f... |
ORPHA:357058 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
ORPHA:496756 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... |
OMIM:619334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Proximal amyotrophy, Muscular dystrophy, Scapular winging, Calf muscle hypertrophy |
OMIM:601287 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... |
ORPHA:523 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... |
ORPHA:99889 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy |
OMIM:612577 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:605726 |
| Renpenning Syndrome |
|
Cachexia, Decreased testicular size, Cataract, Iris coloboma |
ORPHA:3242 |
| Anaplastic Thyroid Carcinoma |
|
Stridor, Abnormal skeletal muscle morphology, Goiter, Nodular goiter, Cough, Upper airway obstruc... |
ORPHA:142 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Skeletal muscle atrophy |
OMIM:256720 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy |
ORPHA:314911 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Cryptorchidism |
OMIM:615982 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
