| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Hearing impairment, Stage 5 chronic kidney disease, Renal insu... |
OMIM:620536 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... |
ORPHA:324575 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... |
ORPHA:276556 |
| Autism |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:607373 |
| Primary Dystonia, Dyt13 Type |
|
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... |
ORPHA:98807 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Gait disturbance, Sensorineural hearing impairment |
ORPHA:2820 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... |
OMIM:608636 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71526 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Reduced social reciprocity, Aggressive behavior, Polyphagia |
ORPHA:329249 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Pick Disease Of Brain |
|
Diminished motivation, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Apathy, E... |
OMIM:172700 |
| Huntington Disease |
|
Depression, Decreased body mass index, Oral-pharyngeal dysphagia, Hostility, Difficulty walking, ... |
ORPHA:399 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy |
OMIM:614063 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal sensory impairment, Se... |
OMIM:614455 |
| Hereditary Central Diabetes Insipidus |
|
Vomiting, Polydipsia, Fever, Diarrhea, Irritability, Lethargy, Weight loss, Diabetes insipidus |
ORPHA:30925 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements |
OMIM:616939 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria, Sensorineur... |
OMIM:620320 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar... |
OMIM:617731 |
| Kleine-Levin Syndrome |
|
Depression, Polydipsia, Fever, Abnormal eating behavior, Irritability, Sweet craving, Polyphagia,... |
ORPHA:33543 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... |
ORPHA:369873 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Cerebral cortical atrophy, Hearing impairment, Stage 5 chroni... |
OMIM:618349 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:95717 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation |
OMIM:617171 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Nausea and vomiting, Emotional lability, Polyphagia, Hepatomegaly, Jaundice, Increased ... |
ORPHA:525731 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Graves Disease |
|
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Irritability, Po... |
OMIM:275000 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:619150 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s... |
ORPHA:2198 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Somatic sensory dysfunctio... |
ORPHA:320401 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Diarrhea... |
OMIM:619802 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Adult Idiopathic Neutropenia |
|
Fever, Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Mo... |
ORPHA:2688 |
| Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Prot... |
ORPHA:66631 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... |
ORPHA:100973 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300495 |
| Classic Galactosemia |
|
Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Diarrhea, H... |
ORPHA:79239 |
| Central Diabetes Insipidus |
|
Depression, Polydipsia, Failure to thrive, Fever, Diarrhea, Nausea and vomiting, Lethargy, Weight... |
ORPHA:178029 |
| Immunodeficiency 32B |
|
Failure to thrive, Fever, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Mon... |
OMIM:226990 |
| Severe Canavan Disease |
|
Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Inability... |
ORPHA:314911 |
| Frontotemporal Dementia |
|
Diminished motivation, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Apathy |
OMIM:600274 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance, Failure to thrive, Anorexia |
ORPHA:79283 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, EEG abnormali... |
OMIM:239500 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Ap... |
ORPHA:20 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsor... |
OMIM:229050 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... |
OMIM:614963 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Feeding difficulties in infancy, H... |
ORPHA:411515 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Meningococcal Meningitis |
|
Hypotension, Fever, Shock, Hypothermia, Petechiae, Irritability, Increased circulating procalcito... |
ORPHA:33475 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| Glycine Encephalopathy 1 |
|
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Let... |
ORPHA:79312 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Fever, Abnormal b... |
ORPHA:319218 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... |
ORPHA:382 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Riboflavin Deficiency |
|
Lethargy, Hypothermia, Hypoglycemia, Poor suck |
OMIM:615026 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Short Stature Due To Ghsr Deficiency |
|
Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insuli... |
ORPHA:314811 |
| Trimethylaminuria |
|
Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, General... |
ORPHA:52368 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Megaloblastic anemia... |
ORPHA:49827 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... |
ORPHA:79301 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Inability to walk, Hypogonadism, Failure to thrive in infancy, Obesity, ... |
OMIM:615547 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vertigo, Abnormal head movements, Ataxia |
ORPHA:71518 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Cerebral cortical atrophy, EEG with parietal epileptiform discharges, Continuous spike and waves ... |
OMIM:619428 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Fever |
OMIM:162800 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Fever, Bruising... |
ORPHA:99828 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Vomiting, Failure to thrive, Ataxia |
ORPHA:622 |
| Sepsis In Premature Infants |
|
Temperature instability, Diarrhea, Hypothermia, Decreased body weight, Neutropenia, Abdominal dis... |
ORPHA:90051 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hyperins... |
ORPHA:263455 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cerebellar atrophy, Cerebr... |
OMIM:301006 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... |
ORPHA:251282 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavio... |
ORPHA:261229 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Constipation, Hyperactivity, Ataxia, Parox... |
ORPHA:228402 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Dystonia, Motor stereotypy, EEG abnormality |
OMIM:617820 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Fever, Splenomegaly, Lethargy, Arrhythmia, Cons... |
ORPHA:99745 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... |
OMIM:609425 |
| Whipple Disease |
|
Insulin resistance, Ataxia, Gastrointestinal hemorrhage, Depression, Polydipsia, Fever, Diarrhea,... |
ORPHA:3452 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Failure to thrive, Incr... |
ORPHA:90674 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abno... |
OMIM:618718 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
ORPHA:226313 |
| Necrotizing Enterocolitis |
|
Temperature instability, Diarrhea, Abdominal distention, Hypotension, Vomiting, Hypoactive bowel ... |
ORPHA:391673 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Hypersplenism, Hepa... |
ORPHA:98850 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Sensor... |
OMIM:615244 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Central hypothyroidism, Failure to thrive, Vomiting, Volvulus, Cholestasis, Malnutritio... |
ORPHA:95427 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Episodic vomiting, Ataxia, Hepatomegaly, Feeding difficulties |
OMIM:618224 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Cerebral cortical atrophy, Sensorineural hearing impairment, Proteinuria, Gait distu... |
ORPHA:1192 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Cyclic Vomiting Syndrome |
|
Vomiting, Cardiomyopathy, Anorexia, Nausea, Lethargy, Attention deficit hyperactivity disorder, G... |
OMIM:500007 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Cerebellar atrophy, Cerebellar vermis atrophy, Proteinuria, M... |
OMIM:618347 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia, Hypoglycemia |
OMIM:610006 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties, Cerebral ischemia, Emotional labilit... |
ORPHA:927 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Low-set ears, Abnormal helix morphology, Cerebral cortical atrophy, Hearing impair... |
OMIM:214100 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Mpi-Cdg |
|
Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to thrive, Decreased l... |
ORPHA:79319 |
| Al Amyloidosis |
|
Postural hypotension with compensatory tachycardia, Abnormal pulmonary interstitial morphology, R... |
ORPHA:85443 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria, Hearing impairment |
ORPHA:79087 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Fever, Emotional lability, Lethargy, Gait disturbance, Unsteady gait, Primary gonadal insufficien... |
OMIM:603896 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Joubert Syndrome 10 |
|
Recurrent fever, Frequent temper tantrums, Obesity, Dysmetria, Decreased body weight, Polyphagia,... |
OMIM:300804 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... |
OMIM:613561 |
| Angelman Syndrome |
|
Broad-based gait, Polyphagia, Ataxia, Dysphagia, Self-injurious behavior, Gastroesophageal reflux... |
ORPHA:72 |
| Autoerythrocyte Sensitization Syndrome |
|
Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Depression, Diarrhea, Fever, Vom... |
ORPHA:324636 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Cardiomyopathy, Hepatic steatosis, Lethargy, Ketotic hypoglycemia, Feeding dif... |
ORPHA:26792 |
| Late-Onset Isolated Acth Deficiency |
|
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ... |
ORPHA:199299 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
OMIM:246900 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to th... |
ORPHA:2394 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... |
OMIM:619386 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... |
ORPHA:159 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Anorexia |
ORPHA:99852 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... |
OMIM:615285 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Propionic Acidemia |
|
Vomiting, Failure to thrive, Hypoglycemia, Cardiomyopathy, Pancytopenia, Hepatomegaly, Lethargy, ... |
OMIM:606054 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... |
ORPHA:567544 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Fever, Shock, Leukopenia, Leukocytosis, Addictive alcohol use, Increased circulating... |
ORPHA:36238 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... |
OMIM:618573 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Vomiting, Failure to thrive, Irritability, Lethargy, Episodic vomiting, Ataxia, Hepatomegaly, Dys... |
OMIM:618226 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Hypothermia, Arrhythmia, Gait disturbance, Ataxia |
ORPHA:29822 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hypotension, Abnormal bleeding, Hepatitis, Fever, Cardiomyopathy, Cholestasis, L... |
ORPHA:292 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Cellulitis, Lymphopenia, Hepatosplenomegaly... |
OMIM:618986 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Recurrent fever, Fever, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:603552 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia, Feeding difficulties, Poor suck |
ORPHA:1935 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Broad-based gait, Obesity, Polyphagia, Poor suck |
ORPHA:171829 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Pancytopenia, Weight loss, Neutropenia, Anorexia, Abdominal pain, Purpura, Sto... |
ORPHA:520 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Cerebral atrophy, Stage 5 chronic kidney disease, Congenital ... |
OMIM:617730 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism, Feeding difficulties in infancy |
ORPHA:177910 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, He... |
OMIM:308940 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Cardiomyopathy, Leukopenia, Lethargy, Cerebe... |
OMIM:251000 |
| Developmental And Epileptic Encephalopathy 92 |
|
Difficulty walking, Inability to walk, Lethargy, Ataxia, Feeding difficulties |
OMIM:617829 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... |
ORPHA:732 |
| Glucagonoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... |
ORPHA:97280 |
| Episodic Ataxia Type 4 |
|
Vertigo, Abnormal head movements, Ataxia |
ORPHA:79136 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine |
OMIM:230400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Irritability, Loss of ambulation, Neutropenia, Dysphagia, Small for gestational age... |
OMIM:618253 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Hypothermia, Excessive bleeding aft... |
ORPHA:99826 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... |
OMIM:231200 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:90673 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm o... |
ORPHA:440437 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Gait disturbance, Failure to thrive, Feeding difficulties |
ORPHA:26 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Failure to thrive, Hypothermia, Aggressive behavior, Lethargy, Anorexia |
OMIM:237310 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Somatostatinoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97283 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... |
OMIM:618917 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617575 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... |
OMIM:609734 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Failure to thrive |
OMIM:274270 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Temperature instability, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, ... |
ORPHA:398069 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Elevated circulating hepatic transaminase concentration, Vomiting, Dilate... |
ORPHA:26793 |
| Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Motor stereotypy |
OMIM:616341 |
| Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardi... |
OMIM:212140 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Diarrhea, Vomiting, Failure to thrive, Lethargy, Gait disturbance, Megaloblastic anemia, Neutrope... |
OMIM:250940 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Fever, Gait ataxia, Irritability, Lethargy, Constipation, Ataxia, Bradykinesia, Feeding difficulties |
ORPHA:101150 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Failure to thrive, Recurrent fever, Decreased body weight |
OMIM:620085 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Mahvash Disease |
|
Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Abdominal pain, Pancreatic alpha... |
OMIM:619290 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Cerebellar atrophy, Sensorineural hearing impairment, Protein... |
OMIM:607426 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Abdominal distention, Increased circulating prolactin concentration, Fasting h... |
ORPHA:300373 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Feeding difficul... |
OMIM:620439 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Hypoglycemia, Decrea... |
ORPHA:42 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Feeding dif... |
OMIM:606407 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Recurrent fever, Irritability, Lethargy, Dysphagia, Choreoathetosis, Feeding difficulties, Poor suck |
OMIM:233910 |
| Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:913 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Acute Liver Failure |
|
Diarrhea, Emotional lability, Euphoria, Ataxia, Jaundice, Gastrointestinal hemorrhage, Depression... |
ORPHA:90062 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Malabsorption, Villous atrophy,... |
OMIM:600955 |
| Alexander Disease |
|
Self-injurious behavior, Precocious puberty, Hypotension, Depression, Failure to thrive, Nausea a... |
ORPHA:58 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:245400 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Recurrent infections due to aspiration, Absent brainstem audito... |
OMIM:617519 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... |
OMIM:159550 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age, Choreoathetosis, Feeding difficulties |
OMIM:617065 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Decreased propo... |
ORPHA:543 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Cerebral cortical atrophy, Difficulty walking, Decreased glomerular filtr... |
ORPHA:488627 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... |
ORPHA:139431 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Fever, Acut... |
ORPHA:131 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia,... |
ORPHA:289916 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis, Lethargy, Ataxia, Choreoathetosis |
ORPHA:71277 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... |
ORPHA:63 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Thrombocytopenia, Delayed early-childhood social milestone development, Chronic neutropenia |
OMIM:619302 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity |
OMIM:615986 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Inability to walk, Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Orthostatic syncope, Diarrhea, Vomiting, Hypoglycemia, Abnormal EKG, Hyperins... |
ORPHA:230 |
| Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Primary Erythromelalgia |
|
Leukemia, Vasculitis, Hypothermia |
ORPHA:90026 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... |
OMIM:600795 |
| Ppoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97278 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Sensorineural hearing impairment |
ORPHA:2668 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Intermittent di... |
OMIM:620270 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98793 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Vomiting, Hypoke... |
OMIM:600649 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Hear... |
OMIM:203780 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Delayed early-childhood social milestone development, Chronic neutropenia |
OMIM:619301 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... |
ORPHA:75564 |
| Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Hypogonadot... |
OMIM:604250 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Diarrhea, Gastroesophageal reflux, Hypotension, Intermittent hypothermia... |
OMIM:608643 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177904 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:608049 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ... |
OMIM:602390 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98754 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... |
ORPHA:247585 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177901 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... |
OMIM:618462 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon... |
ORPHA:261222 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... |
ORPHA:275864 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Abdominal pain, Neoplasm of the p... |
ORPHA:438274 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... |
ORPHA:398079 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, F... |
ORPHA:71212 |
| Evans Syndrome |
|
Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne... |
ORPHA:1959 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... |
ORPHA:226307 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... |
ORPHA:101085 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypogonadism, Co... |
ORPHA:79230 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Splenomega... |
OMIM:201100 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Lethargy, Lower-limb joint contracture |
OMIM:613710 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Impaired distal vibration sensation, Dec... |
OMIM:601455 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Malabsorption, Villous a... |
OMIM:557000 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... |
ORPHA:100075 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Fever, Vomiting, Malnutrition, Abnormality of... |
ORPHA:79456 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, ... |
OMIM:304790 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Ataxia, Gingival bleeding, Diarrhea, Vasculitis, Fever, Gastrointestinal hemor... |
ORPHA:33226 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi... |
OMIM:608594 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Dysmetria, Irritability, Lethargy, Head titubation, Ataxia, Truncal ataxia, Fe... |
OMIM:250620 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl... |
OMIM:617872 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Gastrointestinal hemorrha... |
OMIM:617341 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy, Choreoathetosis, Ataxia |
OMIM:606777 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Diarrhea, Aplastic anemia, Fever, Lymphopenia, Recurrent aphthous stomatitis, Recurre... |
ORPHA:486 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Lethargy, Pancr... |
ORPHA:27 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
| Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage,... |
ORPHA:238459 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Chronic diarrhea, Intermittent thrombocytopenia |
OMIM:616740 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Pancytopenia, Macrocytic anemia, Irritability, Erythroid h... |
OMIM:275350 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... |
ORPHA:1667 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic gait, Failure to thrive, Decreased liver function, Acute hepatitis, Dysmetria, Lethargy, ... |
OMIM:238970 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Emotional lab... |
ORPHA:293987 |
| Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Cerebellar atrophy, Hearing impairment, Nephrotic syndrome, M... |
OMIM:301108 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Ataxia |
OMIM:266130 |
| Neonatal Alloimmune Neutropenia |
|
Temperature instability, Fever, Maternal diabetes, Neutropenia in presence of anti-neutropil anti... |
ORPHA:464370 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Diarrhea, Recurrent fever, Recurrent aphthous stomatitis, Splenomegaly, A... |
OMIM:150550 |
| Grfoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97261 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... |
OMIM:269700 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto... |
OMIM:614470 |
| Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Cerebral atrophy, Stage 5 chronic kidney disease, Podocyte foot process effac... |
OMIM:619609 |
| Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Hypothermia, Pulmonary arterial hypertension, Hypothyroidis... |
OMIM:601005 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, El... |
OMIM:603909 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia, Autonomic bladder dysfunction, Distal sensory impairment, Sensorineural hea... |
ORPHA:99027 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Atelectasis |
OMIM:300455 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Pancytopenia, Hepatomegaly, Le... |
OMIM:251110 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Apathy, Hepa... |
ORPHA:465508 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Cerebellar atrophy, Renal insufficiency, Gait at... |
OMIM:254900 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Depression, Elevated circulating hepatic transaminase concen... |
ORPHA:2137 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ... |
OMIM:619644 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Nausea and vomiting, Irritability, Lethargy, Weight loss, Thrombocytopenia, Anorexia |
ORPHA:79242 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Inability to walk, Gait ataxia, Dysphagia, Recurrent respi... |
DECIPHER:45 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Impaired vibratory sensation, Abnormal pulmonary interstitial morphology, Autonomic ... |
ORPHA:330001 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Lethargy |
OMIM:618120 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia, Cardiomyopathy, ... |
OMIM:616483 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Recurrent ... |
OMIM:308240 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... |
ORPHA:90291 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Paresthesia, Microscopic hematuria, Somatic sensory dysfunction |
OMIM:261100 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Nausea and vomiting, Hepatomegaly, Lethargy, Anemia |
ORPHA:28 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... |
OMIM:618913 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Fever, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospleno... |
ORPHA:169154 |
| Solitary Fibrous Tumor |
|
Fever, Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Constipation, Ab... |
ORPHA:2126 |
| Idiopathic Intracranial Hypertension |
|
Depression, Vomiting, Abnormal emotion, Obesity, Lethargy, Nausea |
ORPHA:238624 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent fever, Recurrent aphthous stomatitis... |
ORPHA:343 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Familial Hypofibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:98881 |
| Developmental And Epileptic Encephalopathy 67 |
|
Recurrent hand flapping, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis |
OMIM:618141 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Hearing impairment, Renal tubular dysfunction, Abnor... |
ORPHA:99885 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Hypoglycemia, Subdural hem... |
ORPHA:79282 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Failure to thrive, Feeding difficulties, Inguinal hernia, Lethargy, Pulm... |
OMIM:614857 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Fever, Hypertroph... |
ORPHA:464321 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... |
ORPHA:100082 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... |
OMIM:201475 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphol... |
OMIM:606528 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Xerostomia, Central adrenal insufficiency, Polyphagia, Precocious puberty, ... |
ORPHA:739 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Sensorineural hearing impairment, Proteinuria |
ORPHA:182050 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... |
ORPHA:2869 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Enlarge... |
ORPHA:107 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Motor stereotypy |
OMIM:619690 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Ataxia |
OMIM:618228 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati... |
ORPHA:449395 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinur... |
ORPHA:436271 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Vomiting, Dilated cardiomyopathy, Recurrent fever, Pancytopenia, Gait ataxia, Irritabil... |
OMIM:618321 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... |
ORPHA:276621 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormal rectum morphology, Hypertension, Episodic abdominal pain, A... |
ORPHA:251992 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis, Sensorineural hearing impairment |
OMIM:209010 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Gastroesophageal reflux, Bruxism, Inappropriate laughter, Recurrent hand... |
OMIM:156200 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Atrioventricular block, Hyp... |
OMIM:212138 |
| Chromosome 22Q13 Duplication Syndrome |
|
Emotional lability, Bipolar affective disorder, Polyphagia, Attention deficit hyperactivity disor... |
OMIM:615538 |
| Isovaleric Acidemia |
|
Vomiting, Pancytopenia, Leukopenia, Lethargy, Cerebellar hemorrhage, Thrombocytopenia |
OMIM:243500 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Lethargy, Bradykinesia, Ataxia |
OMIM:618683 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Fever, Pancytopenia, Nausea and vomiting, Splenomegaly, Petechiae, Neutropenia,... |
ORPHA:79477 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Gastroesophageal reflux, Bipolar affective disorder, Attention deficit hyperactivity disorder, Hy... |
OMIM:619927 |
| Methylcobalamin Deficiency Type Cble |
|
Vomiting, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the ... |
ORPHA:2169 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:618774 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:100080 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... |
OMIM:616726 |
| Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperf... |
OMIM:617475 |
| Fragile X Syndrome |
|
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia |
OMIM:300624 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Fever, Gastrointestinal infarctions, Abnormality of the ... |
ORPHA:91138 |
| Wolfram Syndrome |
|
Male hypogonadism, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Hypogonadism, Abnorma... |
ORPHA:3463 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Gait disturbance, Ataxia, Nephrotic syndrome, Recurrent respiratory infections, Athe... |
ORPHA:834 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Precocious puberty, Temperature instability, Class III obesity, Decrease... |
OMIM:176270 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Inability to walk, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Const... |
OMIM:618493 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Failure to thrive, Lethargy, Weight loss, Decreased circulating parathyroid hormone level |
OMIM:143880 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Broad-based gait, Motor stereotypy, Neutropenia |
OMIM:618067 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Hepatitis, Failure to thrive, Fever, Malabsorption, Weight loss, Thrombocytopenia, Ne... |
ORPHA:47 |
| Man1B1-Cdg |
|
Polyphagia, Broad-based gait, Truncal obesity |
ORPHA:397941 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... |
ORPHA:17 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Diarrhea, Failure to thrive, Protracted diarrhea, Pancytopenia, Recurrent... |
ORPHA:572 |
| Wagro Syndrome |
|
Obesity, Low frustration tolerance, Emotional lability, Reduced social reciprocity, Polyphagia, A... |
OMIM:612469 |
| Autosomal Agammaglobulinemia |
|
Cellulitis, Diarrhea, Fever, Failure to thrive, Hepatitis, Malabsorption, Neutropenia |
ORPHA:33110 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... |
ORPHA:98826 |
| Immunodeficiency 7 |
|
Diarrhea, Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutro... |
OMIM:615387 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Arrhythmia, Ataxia, Bradykinesia, Dysphagia, Depression, Gastroesophageal reflux, Goiter, Gastrop... |
ORPHA:254892 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... |
ORPHA:85450 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Inability to walk, Stage 5 chronic kidney disease, Renal insufficiency, ... |
OMIM:166300 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Gastroesophageal reflux, Failure to thrive, Elbow contracture, Lethargy, Feeding difficulties, Po... |
OMIM:611523 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... |
ORPHA:363400 |
| Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
| Zygomycosis |
|
Cellulitis, Diarrhea, Ileitis, Neutropenia, Abdominal pain, Gastrointestinal hemorrhage, Peritoni... |
ORPHA:73263 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Dysme... |
OMIM:256550 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Lethargy, Anorexia, Decreased mean corpus... |
OMIM:611590 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Thi... |
OMIM:614104 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Disinhibition |
OMIM:612069 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn... |
OMIM:619705 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Decreased liver function, Hyperglycemia, Feeding difficulties, Agitation, Cyanosis,... |
OMIM:620423 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Congestive heart failure, Obesi... |
ORPHA:3077 |
| Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Renal insufficiency, Pleural effusion, Sensorineural hearing impairment, Hematuria, Pr... |
ORPHA:36412 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:616730 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... |
OMIM:618342 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov... |
ORPHA:398124 |
| Tenorio Syndrome |
|
Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, Emotional lability, Gait di... |
OMIM:616260 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... |
OMIM:618329 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Failure to thrive, Lethargy, Gait disturbance, Megaloblastic anemia |
OMIM:236270 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... |
ORPHA:213 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Sensorine... |
OMIM:220110 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Large fleshy ears, Gait ataxia, Impaired tactile sensation, Ataxia, Overfolded heli... |
OMIM:619092 |
| Maple Syrup Urine Disease, Type Ia |
|
Vomiting, Hypoglycemia, Lethargy, Feeding difficulties in infancy, Pancreatitis, Ataxia |
OMIM:248600 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... |
ORPHA:95433 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Polycythemia Vera |
|
Gingival bleeding, Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism... |
ORPHA:729 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Vomiting, Ataxia |
OMIM:618225 |
| Ethylene Glycol Poisoning |
|
Hypotension, Vomiting, Congestive heart failure, Shock, Hypothermia, Cyanosis, Nausea, Addictive ... |
ORPHA:31826 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe... |
ORPHA:247815 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Glycosuria, Renal tubular acidosis, P... |
OMIM:613404 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Autoi... |
OMIM:301078 |
| Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... |
OMIM:276700 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... |
ORPHA:44890 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, C... |
OMIM:620211 |
| Citrullinemia Type I |
|
Hepatic failure, Gastroesophageal reflux, Vomiting, Failure to thrive, Lethargy, Ataxia, Feeding ... |
ORPHA:247525 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors... |
OMIM:120330 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Feeding difficulties, Bradycardia |
OMIM:614654 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, F... |
ORPHA:36426 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Vomiti... |
ORPHA:94093 |
| Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... |
ORPHA:231169 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hypoglycemia, Irritability, Lethargy, Hepatomegaly, Tachycardia |
OMIM:229700 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Motor stereotypy |
OMIM:617393 |
| Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Pa... |
ORPHA:561854 |
| Klippel-Trénaunay Syndrome |
|
Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic... |
ORPHA:90308 |
| Aregenerative Anemia |
|
Depression, Abnormal bleeding, Fever, Bruising susceptibility, Pancytopenia, Decreased proportion... |
ORPHA:101096 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop... |
ORPHA:156 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Hypothermia, Joint contracture, Bradycardia, Feeding difficulties |
OMIM:614498 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia, Hepatic steatosi... |
OMIM:201450 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Large earlobe, Renal insufficiency, Proteinuria, Glomerulopathy, Choreoathetosis, ... |
ORPHA:2715 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti... |
ORPHA:99147 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... |
OMIM:616216 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia, Ataxia |
OMIM:616949 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Fever, Lymphopenia, Pancytopenia,... |
OMIM:242900 |
| Smith-Magenis Syndrome |
|
Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality... |
OMIM:182290 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Thrombocytosis, Leukocytosis, B lymphocytopeni... |
OMIM:619281 |
| Juvenile Huntington Disease |
|
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Brad... |
ORPHA:248111 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Vomiting, Fever, Inability to walk, Gait ataxia, Irritability, Lethargy, Dysphagia |
OMIM:607483 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia, Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... |
ORPHA:652 |
| Cyclic Neutropenia |
|
Cellulitis, Recurrent fever, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Pe... |
ORPHA:2686 |
| Lynch Syndrome |
|
Nausea and vomiting, Neoplasm of the rectum, Weight loss, Abdominal pain, Gastrointestinal hemorr... |
ORPHA:144 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Poor suck, Cardiomyopathy, Cholestasis, Failure to thrive in infancy, Hypoketotic h... |
ORPHA:746 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic diarrhea, Failure to thrive, Monocytosis |
OMIM:615592 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... |
ORPHA:206443 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Elevated circulating hepatic transaminase concentration, Small for gestational age, Fee... |
OMIM:610498 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Cardiomyopathy, Fatal liver failure in infancy |
ORPHA:254857 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Failure to thrive, Abnormal bleeding, Hypersegmentation of neutrop... |
ORPHA:35858 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Atelectasis |
OMIM:619466 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency, Pleuritis |
OMIM:134610 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency |
ORPHA:54057 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Vomiting, Failure to thrive, Hypoglycemia, Lethargy, Feeding difficultie... |
OMIM:210200 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Fever |
ORPHA:163703 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Hypothermia, Persistent fetal circulation, Feeding d... |
OMIM:618775 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder, Pyloric stenosis |
ORPHA:1715 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,... |
ORPHA:537 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Recurrent fever, Hepatic amyloidosis, Chronic constipation... |
OMIM:142680 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation |
OMIM:617435 |
| Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Goiter, Lethargy, Constipation, Hypothyroidism |
OMIM:274400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Thrombocytopenia, Ne... |
OMIM:603585 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Fever, Hypoglycemia, Vomiting,... |
OMIM:608836 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... |
ORPHA:29072 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Abnormal bleeding, Congestive heart failure, Leukopenia, Hepatic steatosis, Thrombocytope... |
OMIM:616271 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Vomiting, Failure to thrive, Irritability, Lethargy, Protein avoidance, Ataxia |
OMIM:237300 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Letterer-Siwe Disease |
|
Abdominal distention, Fever, Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Ane... |
OMIM:246400 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Cardio... |
ORPHA:445038 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Apathy, Agitation, Hypersexuality |
OMIM:607485 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Tenesmus, Chronic constipation, Decreased body weight, Rectal prol... |
ORPHA:209964 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Lennox-Gastaut Syndrome |
|
Falls, Irritability, Aggressive behavior, Apathy, Hyperactivity |
ORPHA:2382 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Episodic hemolytic anemi... |
ORPHA:251004 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Gastroesophageal reflux, Inguinal hernia, Bipolar affective ... |
ORPHA:485350 |
| Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... |
OMIM:256300 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Obesity, Aggressive behavior, Excessive shyness |
OMIM:616831 |
| Renal Hypodysplasia/Aplasia 1 |
|
Low-set ears, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia |
OMIM:191830 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Fever, Leukopenia, Splenomegaly... |
ORPHA:809 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So... |
ORPHA:206448 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Gastroesophageal reflux, Recurrent... |
ORPHA:449291 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Sensorineural hearing impairment |
OMIM:619269 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate... |
OMIM:255120 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Feedi... |
OMIM:618752 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Fever, Hypertrophic cardiomyopathy, G... |
ORPHA:255210 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Unexplained fevers, Atypical scarring of skin, Bruising susceptibility, Recurrent fever, Fasciiti... |
ORPHA:642 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Renal insuffi... |
ORPHA:1307 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Spontaneous h... |
ORPHA:274 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Hypsarrhythmia, Motor stereotypy, Hearing impairment, Macrotia |
OMIM:619877 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... |
ORPHA:906 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... |
ORPHA:99832 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency |
ORPHA:375 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Posteriorly rotated ears, Sensorineural hearing impairment |
ORPHA:2143 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Irritability, Lethargy, Flexion contracture, Feeding difficulties |
OMIM:617105 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Failure to thr... |
OMIM:614700 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Cachexia, Neutropenia, Autoimmune thrombocytopenia, Failure to thr... |
ORPHA:37042 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Hypotension, Diarrhea, Vomiting, Fever, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytos... |
ORPHA:134 |
| Huntington Disease-Like 3 |
|
Cerebral cortical atrophy, Broad-based gait, Abnormal head movements, Chorea, Progressive gait at... |
ORPHA:157946 |
| Huntington Disease-Like 1 |
|
Depression, Abnormal head movements, Gait ataxia, Dysmetria, Gait disturbance, Weight loss, Jerky... |
ORPHA:157941 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Failure to thriv... |
OMIM:609015 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:619317 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino... |
ORPHA:2070 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Recurrent pneumonia, Inability to w... |
OMIM:617303 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Motor stereotypy... |
OMIM:618504 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Bilateral facial palsy, Loss of ambulation, Pulmonary fibrosis, Dysph... |
ORPHA:254361 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Aortic valve stenosis, Obesity, Congenital diaphragmatic hernia, Reduced... |
ORPHA:96121 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age, Choreoathetosis, Episodic ataxia |
OMIM:312170 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... |
ORPHA:1215 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity, Delayed early-childho... |
OMIM:618090 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Pheochromocy... |
ORPHA:139411 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal insufficiency, Renal tubular acidos... |
OMIM:610205 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Susac Syndrome |
|
Abnormal emotion, Gait ataxia, Nausea and vomiting, Lethargy, Apathy |
ORPHA:838 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... |
OMIM:187900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lethargy, ... |
OMIM:619064 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thro... |
OMIM:169400 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79444 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Pulmonary edema, A... |
ORPHA:275555 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Reduced number of intrahepatic bile ducts, Lethargy, Intraventricular hemorrha... |
ORPHA:79284 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology |
ORPHA:839 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment |
OMIM:616351 |
| Cholera |
|
Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Fever, Hypoglycemia, Abdominal cramps, Irrita... |
ORPHA:173 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79443 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Spontane... |
ORPHA:565 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Decreased liver function, Fever, Elevated circulating aspartate amin... |
ORPHA:158061 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Loss of ambulation, Lethargy, Gait disturbance, Ataxia, Anemia |
OMIM:615838 |
| Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Failure to thrive, Pancytopenia, Hepatomegaly, Lethargy, Feeding difficulties in infanc... |
OMIM:251100 |
| Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Lethargy, Hypothyroidism, Arrh... |
ORPHA:254913 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... |
ORPHA:903 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Umbilical... |
ORPHA:404448 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:302060 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th... |
OMIM:615471 |
| Central Neurocytoma |
|
Lethargy, Depression, Nausea and vomiting, Ataxia |
ORPHA:73256 |
| Mhc Class Ii Deficiency 1 |
|
Failure to thrive, Protracted diarrhea, Malabsorption, Villous atrophy, Biliary tract abnormality... |
OMIM:209920 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Low-set ears, Tubulointerstitial nephritis |
OMIM:616901 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Sensorineural hearing i... |
OMIM:600430 |
| Helsmoortel-Van Der Aa Syndrome |
|
Mitral regurgitation, Polyphagia, Dysphagia, Motor stereotypy, Gastroesophageal reflux, Decreased... |
OMIM:615873 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy, Macrotia |
ORPHA:85278 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... |
OMIM:617052 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... |
OMIM:620292 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Self-mutilation, Gait disturbance, Micropenis, Pulmonary fibrosis, Motor stereotypy, Macrotia |
ORPHA:457240 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Pancytopenia, Hepatomegaly, Lethargy, Tracheoesophageal fistula, Megaloblastic... |
OMIM:277380 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Feeding d... |
ORPHA:251028 |
| Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Gait disturbance, Feeding difficulties in infancy, Multiple lipomas, Ataxia, Choreoathe... |
ORPHA:765 |
| Familial Hypoaldosteronism |
|
Hypotension, Diarrhea, Failure to thrive, Recurrent fever, Adrenal insufficiency, Nausea and vomi... |
ORPHA:427 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Difficulty walking, Inability to walk, Cholec... |
ORPHA:778 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Gastroesophageal reflux, Constipation, Neutropenia, Ataxia, Feeding difficulties |
OMIM:620012 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Ketonuria, Oral-pharyngeal dysphagia, Cerebral atrophy, Neurodegeneration, Gait at... |
OMIM:616878 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Hepatitis, Failure to thrive, Stomatitis, Chronic hepatitis, Splenomegaly, Sclerosing c... |
OMIM:308230 |
| Alobar Holoprosencephaly |
|
Temperature instability, Abnormal gastrointestinal tract morphology, Apathy, Abnormal heart rate ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Temperature instability, Abnormal gastrointestinal tract morphology, Apathy, Abnormal heart rate ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Temperature instability, Abnormal gastrointestinal tract morphology, Apathy, Abnormal heart rate ... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Temperature instability, Abnormal gastrointestinal tract morphology, Apathy, Abnormal heart rate ... |
ORPHA:220386 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Leukopenia, Portal hypertension, Congenital hepat... |
ORPHA:974 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Inability to walk, Recurrent hand flapping, Gait ataxia, Aggressive behavior,... |
OMIM:619580 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Gastroesophageal reflux, Inability to walk, Bruxism, Chronic constipation, Irritability, Aggressi... |
OMIM:617799 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Adrenal hypoplasia, Arrhythmia |
ORPHA:230839 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Attention deficit hyperactivity d... |
ORPHA:98784 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Aspiration pneumonia, Stage 5 chronic kidney disease, Sensor... |
ORPHA:1018 |
| Isolated Complex I Deficiency |
|
Vomiting, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Hepatom... |
ORPHA:2609 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Vomiting, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Hepatomegaly |
OMIM:614299 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... |
ORPHA:352490 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... |
ORPHA:79430 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyroidism, Hepatomegaly, Hypoplast... |
ORPHA:699 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Hypoplasia of the ear cartilage, Proteinuria, EEG abnormality, Nephrotic syndrome, M... |
ORPHA:2065 |
| Ohdo Syndrome |
|
Proteinuria, Stenosis of the external auditory canal, Hearing impairment, Microtia |
OMIM:249620 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor stereotypy |
OMIM:619725 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Fever, Congestive heart failure, Su... |
ORPHA:727 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenom... |
OMIM:214500 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal proportion of naive CD4 T cells, Failure to thrive, Congestive hea... |
ORPHA:1830 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Moderate albuminuria, EEG with burst suppression, Hypsarrhythmia, Recurrent respir... |
OMIM:614231 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemol... |
OMIM:615952 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... |
ORPHA:228302 |
| Pgm3-Cdg |
|
Ataxia, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Gastroesophageal reflux, Cutan... |
ORPHA:443811 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... |
ORPHA:873 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Recurrent otitis ... |
ORPHA:2728 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Motor stereotypy, Waddling gait |
ORPHA:280763 |
| Agel Amyloidosis |
|
Hearing impairment, Stage 5 chronic kidney disease, Respiratory tract infection, Proteinuria, Ort... |
ORPHA:85448 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... |
ORPHA:494444 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Emotional lability, Anorexia, Neu... |
ORPHA:99827 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Large earlobe, Hypsarrhythmia, Multifocal epileptiform discharges, Motor ste... |
ORPHA:411986 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Optic atrophy, Cerebral atrophy, Recurrent urinary tract ... |
OMIM:619487 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| 7Q31 Microdeletion Syndrome |
|
Enuresis nocturna, Abnormal temper tantrums, Galactosuria, Low-set ears, Childhood onset sensorin... |
ORPHA:251061 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Prolonged bleeding following procedure, Hepatic st... |
ORPHA:79259 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... |
OMIM:619260 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Fever, Lethargy, Cirrhosis, Pulmonary arterial hyperte... |
OMIM:215600 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Self-injurious behavior, Hearing impairment, Tremor, Motor stereotypy |
ORPHA:238750 |
| Legionnaires Disease |
|
Anorexia, Abnormal pleura morphology, Renal insufficiency, Hematuria, Proteinuria, Recurrent phar... |
ORPHA:549 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
| Becker Muscular Dystrophy |
|
Falls, Tip-toe gait, Abnormal urinary color, Difficulty walking, Myoglobinuria |
ORPHA:98895 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:618825 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage |
OMIM:602248 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent fever, Lymphopenia, Recurrent aphthous stomatitis, Autoimmune hemolytic anemia, Neutrop... |
OMIM:614868 |
| Juvenile Polyposis Of Infancy |
|
Protein-losing enteropathy, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, Hematoche... |
ORPHA:79076 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Vomiting, G... |
OMIM:229600 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Dihydropyrimidinase Deficiency |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lethargy, Eleva... |
OMIM:222748 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Cholestasis, Tricuspid regurgitation, Leuko... |
OMIM:620233 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Difficulty walking, Renal insufficiency, Abnormality of periph... |
ORPHA:90321 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Leukopenia, Childhood-onset truncal obesit... |
OMIM:216550 |
| Scrub Typhus |
|
Hypotension, Abnormal bleeding, Fever, Nausea and vomiting, Splenomegaly, Lethargy, Myocarditis, ... |
ORPHA:83317 |
| Congenital Factor Xi Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... |
ORPHA:329 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Dystonia, Choreoathetosis |
OMIM:245348 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia... |
OMIM:613990 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal insufficie... |
ORPHA:93126 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Fever, Failure ... |
ORPHA:137675 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai... |
OMIM:617802 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Congenital sensorineural hearing impairment, Akinesia, Renal insufficiency, Sensorineural hearing... |
OMIM:619147 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Hypothermia, Bradycardia |
OMIM:608800 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevated circulating follicle stimu... |
OMIM:620501 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... |
OMIM:617808 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Impulsivity |
ORPHA:35706 |
| Behçet Disease |
|
Ataxia, Aortic regurgitation, Gastrointestinal hemorrhage, Vasculitis, Pulmonary embolism, Fever,... |
ORPHA:117 |
| Menkes Disease |
|
Intracranial hemorrhage, Hypothermia |
OMIM:309400 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... |
ORPHA:397612 |
| Aspergillosis |
|
Fever, Hepatitis, Eosinophilia, Abnormal esophagus morphology, Neutropenia, Intracranial hemorrhage |
ORPHA:1163 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
| Simple Cryoglobulinemia |
|
Unexplained fevers, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Chronic ly... |
ORPHA:91139 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... |
OMIM:617600 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Failure to thrive, Pancytopenia, Leuko... |
OMIM:613989 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphol... |
ORPHA:183 |
| Fabry Disease |
|
Lipiduria, Paresthesia, Renal insufficiency, Proteinuria, Abnormal autonomic nervous system physi... |
OMIM:301500 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Abnormal amplitude of flash visu... |
ORPHA:168491 |
| 22Q11.2 Duplication Syndrome |
|
Hearing impairment, Anterior creases of earlobe, Displacement of the urethral meatus, Hydronephro... |
ORPHA:1727 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Heat intolerance, Inappropriate laughter, Abnormal eating behavior, Recurrent h... |
ORPHA:98794 |
| Leigh Syndrome |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomy... |
ORPHA:506 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Hepatic steatosis, Telangiectasia, Polyphagia, Feeding difficulties in... |
ORPHA:1606 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy |
OMIM:610883 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Diarrhea, Fever,... |
ORPHA:91547 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Depression, Elevated circulating... |
ORPHA:79095 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Gait disturbance |
ORPHA:2774 |
| Felty Syndrome |
|
Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight loss, Thrombocytop... |
ORPHA:47612 |
| Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... |
ORPHA:480520 |
| Cri-Du-Chat Syndrome |
|
Low-set ears, Hypospadias, Optic atrophy, Hearing impairment, Difficulty walking, Stenosis of the... |
OMIM:123450 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Fever, Recurrent intrapulmonary hemorrhage, C... |
ORPHA:900 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Fever, Bruising susceptibility, Leukocytosis, Splenomegaly, Nausea and vomiting, ... |
ORPHA:3226 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity,... |
ORPHA:3306 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Low-set ears, Optic atrophy, Cerebellar atrophy, Cerebral atr... |
OMIM:251300 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Fever, Cardiomyopathy, Bundle branch block, Angina pecto... |
ORPHA:93672 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... |
ORPHA:368 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Vomiting, Failure to thrive, Episodic ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:311250 |
| Hereditary Fructose Intolerance |
|
Diarrhea, Vomiting, Reactive hypoglycemia, Nausea, Chronic hepatic failure, Lethargy, Abdominal p... |
ORPHA:469 |
| Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Lethargy |
ORPHA:205 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaund... |
ORPHA:167 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Diffi... |
OMIM:610978 |
| Galloway-Mowat Syndrome 3 |
|
Low-set ears, Cerebellar atrophy, Cerebral atrophy, Stage 5 chronic kidney disease, Proteinuria, ... |
OMIM:617729 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... |
OMIM:232220 |
| Citrullinemia, Classic |
|
Vomiting, Failure to thrive, Irritability, Lethargy, Cirrhosis, Protein avoidance, Ataxia, Hepato... |
OMIM:215700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Ogden Syndrome |
|
Shuffling gait, Cardiogenic shock, Abnormal head movements, Inguinal hernia, Lethargy, Arrhythmia |
ORPHA:276432 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Low-set ears, Pain insensitivity, Inability to walk, Bruxism, Chorea, Motor stereotypy, Repetitiv... |
OMIM:300260 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Cerebral hemorrhage, Petechiae, Lethargy... |
OMIM:617397 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy, Malabsorption |
OMIM:238750 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regurgitatio... |
OMIM:612541 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Low-set ears, Motor stereotypy |
OMIM:613443 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Bruxism, Paroxysmal dystonia, Dystonia, Motor stereotypy, Macrotia |
OMIM:618004 |
| Arima Syndrome |
|
Optic atrophy, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting... |
OMIM:243910 |
| Coffin-Siris Syndrome 7 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... |
OMIM:618027 |
| Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Recurrent pneumonia, Recurrent otitis media, Sensorineural hearing impairment, Moto... |
OMIM:617751 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Hypoglycemia, Hypothyroidism, Neutropenia, Joint contracture, Feeding difficul... |
OMIM:618005 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... |
ORPHA:88 |
| Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Inability to walk, Central adrenal insuffi... |
ORPHA:488632 |
| Hijazi-Reis Syndrome |
|
Gait disturbance, Motor stereotypy |
OMIM:301094 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Fa... |
ORPHA:1329 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Gastroesophageal reflux, Failure to thrive, Stereotypical body rocking, Unstead... |
OMIM:617865 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai... |
ORPHA:363705 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis |
OMIM:620321 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Diarrhea, Lymp... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Diarrhea, Splenomegaly, Decreased proportion of class-switched memory B ce... |
OMIM:607594 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Focal dystonia, Tremor, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Difficulty walking, Hypothyroidism, Neutropenia, Hepatomegaly, Waddling gait |
OMIM:251900 |
| Donnai-Barrow Syndrome |
|
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Proteinuria, Posteriorly rota... |
OMIM:222448 |
| Occipital Horn Syndrome |
|
Atypical scarring of skin, Gastroesophageal reflux, Keloids, Hepatitis, Bruising susceptibility, ... |
ORPHA:198 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia |
OMIM:620502 |
| Cryptogenic Organizing Pneumonia |
|
Fever, Anorexia, Leukocytosis, Cyanosis, Weight loss, Neutrophilia, Hypoxemia |
ORPHA:1302 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertension, Decrea... |
OMIM:615238 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Compulsive behaviors, Reduction of neutrophil motility, Cellulitis, Neutrophilia |
OMIM:266265 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Dystonia, Agitation |
OMIM:617903 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Fever, Cholestasis, Leukocytosis, Eosino... |
ORPHA:293173 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Gastroesophageal reflux, Failure to thrive, Nausea and vomiting, Aggressive behavior,... |
OMIM:620242 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Difficulty walking, Myoglobinuria, Waddling gait, Broad-based gait |
ORPHA:119 |
| Fabry Disease |
|
Nephropathy, Optic atrophy, Acroparesthesia, Hearing impairment, Vertigo, Emphysema, Renal insuff... |
ORPHA:324 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Transketolase Deficiency |
|
Self-injurious behavior, Increased level of ribose in urine, Hearing impairment, Renal cyst, Atte... |
ORPHA:488618 |
| Sarcoidosis |
|
Hypothermia, Arrhythmia, Weight loss, Hepatomegaly, Heart block, Increased T cell count, Hypothyr... |
ORPHA:797 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Purpura, Intes... |
ORPHA:810 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Vomiting, Failure to thrive, Bradycardia, Lethargy, Feeding difficulties in infancy,... |
OMIM:277400 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineura... |
ORPHA:500159 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula... |
OMIM:192315 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency, Ataxia |
OMIM:300653 |
| Pouchitis |
|
Hematochezia, Diarrhea, Fever, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal ... |
ORPHA:217067 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria |
OMIM:215250 |
| Fusariosis |
|
Cellulitis, Granuloma, Brain abscess, Fever, Fasciitis, Abnormality of the spleen, Lymphopenia, A... |
ORPHA:228119 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... |
OMIM:260400 |
| Argininosuccinic Aciduria |
|
Hepatic fibrosis, Vomiting, Failure to thrive, Elevated circulating aspartate aminotransferase co... |
OMIM:207900 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Fever, Pancyto... |
ORPHA:158048 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Motor stereotypy |
ORPHA:79155 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Lymphopenia, Neutropenia, Feeding difficulties, Pyloric s... |
OMIM:616395 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos... |
ORPHA:228426 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia, Re... |
OMIM:223360 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Hearing impairment, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:86818 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... |
OMIM:613812 |
| Alazami Syndrome |
|
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... |
ORPHA:319671 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Orthostatic hypotension, Abnormal autonomic nervou... |
ORPHA:71273 |
| Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-n... |
OMIM:601859 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Optic atrophy, Proximal tubulopathy, Cerebral co... |
ORPHA:550 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... |
ORPHA:280365 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Optic atrophy, Aggressive behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| Oromandibular Dystonia |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Lingual dystonia... |
ORPHA:93958 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia |
ORPHA:391307 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Motor stereotypy |
OMIM:617807 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia, Concentric hypertrophic cardiomyopath... |
OMIM:252010 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris... |
ORPHA:758 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... |
OMIM:300912 |
| Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal pol... |
ORPHA:2929 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic... |
OMIM:617941 |
| Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Vomiting, Granuloma, Fever, Irritability, Abnormality of the adre... |
ORPHA:68 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Head-banging, Cerebellar atrophy, Recurrent urinary tract infections, Horseshoe kid... |
OMIM:619103 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... |
ORPHA:1435 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An... |
OMIM:614520 |
| Lysinuric Protein Intolerance |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Hemophagocyto... |
ORPHA:470 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Fever, Diarrhea, Weight l... |
ORPHA:54251 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e... |
ORPHA:394 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia |
ORPHA:530983 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, Ataxi... |
OMIM:615816 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pulmonary embolism, Glycosuria, Esophageal spasms, Budd-Chiari syndrome, Pancytopenia, Hemolytic ... |
ORPHA:447 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... |
OMIM:243150 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia, Interictal EEG abnormality, Loss of a... |
ORPHA:79264 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Compulsive be... |
OMIM:618430 |
| Holocarboxylase Synthetase Deficiency |
|
Vomiting, Irritability, Lethargy, Feeding difficulties in infancy, Thrombocytopenia |
OMIM:253270 |
| Medulloblastoma |
|
Elevated circulating hepatic transaminase concentration, Adenomatous colonic polyposis, Nausea an... |
ORPHA:616 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... |
ORPHA:679 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... |
OMIM:619121 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Broad-based gait, Gastroesophageal reflux, Increased circulating prolactin co... |
ORPHA:438213 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Abnormal head movements, Esophagitis, Hiatus hernia, Hematemesis, Episod... |
ORPHA:71272 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Neutropenia, Bradycardia, Jaundice, Neonatal hypoglycemia, Dysphagia, Feeding ... |
OMIM:617248 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Renal magnesium wasting, St... |
OMIM:248250 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Xfe Progeroid Syndrome |
|
Proteinuria, Optic atrophy, Renal insufficiency, Hearing impairment |
OMIM:610965 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... |
ORPHA:98849 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT |
ORPHA:90060 |
| 48,Xxyy Syndrome |
|
Recurrent respiratory infections, Attention deficit hyperactivity disorder, Ataxia, Hypoplasia of... |
ORPHA:10 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Diffuse alveolar hemorrhage, Proteinuria |
OMIM:614034 |
| Cornelia De Lange Syndrome 1 |
|
Self-injurious behavior, Low-set ears, Renal hypoplasia, Optic atrophy, Conductive hearing impair... |
OMIM:122470 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Vomiting, Failure to thrive, Hypoglycemia, Lethargy, Feeding difficulties |
OMIM:210210 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Proteinuria, Moderate proteinuria, Posteriorly rotated ears, Hemolytic-ur... |
OMIM:301110 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Sensorineural hearing impairment, Hematuria, Proteinuria, Glomerulonephritis... |
OMIM:161200 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Low-set ears, Moderate albuminuria, Recurrent otitis media, Membranoproliferative glomerulonephri... |
OMIM:619525 |
| 22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Hypoparathyroidism, Purpura, Bowel incontinence, Cholelithiasis,... |
ORPHA:567 |
| Argininemia |
|
Portal fibrosis, Spastic gait, Micronodular cirrhosis, Vomiting, Cholestasis, Irritability, Hyper... |
OMIM:207800 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Neurogenic bladder, Dysphagia, Optic nerve hypoplasia |
ORPHA:572013 |
| Infantile Neuroaxonal Dystrophy |
|
Temperature instability, Emotional lability, Unsteady gait, Gait disturbance, Constipation, Hyper... |
ORPHA:35069 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... |
OMIM:300986 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... |
OMIM:187300 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypoglycemia, Lethargy, Small for gestational age, Feeding difficulties, Poor ... |
OMIM:607143 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Fixated interests, Umbilical hernia, Emotional labilit... |
OMIM:620330 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Pleural effusion, ... |
ORPHA:93552 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiom... |
ORPHA:538 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:617156 |
| Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Hypogonadism, Functional abnormali... |
ORPHA:221008 |
| Biotinidase Deficiency |
|
Diarrhea, Vomiting, Splenomegaly, Lethargy, Feeding difficulties in infancy, Ataxia, Hepatomegaly |
OMIM:253260 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Abnormal pulmonary interstitial morphology, Decreased glomeru... |
OMIM:614748 |
| Martin-Probst Syndrome |
|
Low-set ears, Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Chordee, Microp... |
OMIM:300519 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Aganglionic mega... |
OMIM:300352 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... |
OMIM:175500 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... |
ORPHA:411634 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy, Optic nerve hypoplasia |
ORPHA:228384 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:614866 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Cerebellar atrophy, Dysmetria, Proteinuria, Renal cyst, Ataxia, Nephrotic s... |
OMIM:212065 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Renal hypoplasia, Cupped ear, Aggressive behavior, Motor stereotypy, Imp... |
OMIM:618914 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy |
ORPHA:208447 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Bruising susceptibility, Pancytopenia, Attention deficit hyperactivity disorder... |
OMIM:227646 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Loss of ambulation, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Weaver Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly |
OMIM:277590 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Abnormality of t... |
ORPHA:819 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria |
OMIM:616026 |
| Ritscher-Schinzel Syndrome 4 |
|
Macrotia, Chorea, Aggressive behavior, Dysphagia, Ataxia, Micropenis, Athetosis, Motor stereotypy... |
OMIM:619435 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Hearing impairment, Recurrent respiratory inf... |
ORPHA:261494 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Ataxia |
ORPHA:713 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption, Splenomegaly, Hepatomegaly, Elevated ci... |
ORPHA:2796 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly, Cardiac arrest, Feeding difficulties |
OMIM:604377 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting |
OMIM:613845 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Protruding ear, Tongue thrusting, EEG abnormality, Dystonia, Athetosis, Motor stereotypy |
OMIM:613454 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Low-set ears, Vesicoureteral reflux, Posteriorly rotated ears, Compulsiv... |
OMIM:613174 |
| Kleefstra Syndrome 1 |
|
Hearing impairment, Aggressive behavior, Motor stereotypy, Abnormal renal morphology, Micropenis,... |
OMIM:610253 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Conductive hearing impairment, Hearing impairment, Atelectasis, Recurrent otitis ... |
ORPHA:244 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Inability to walk, Heparan sulfate excretion in urine, Urinary glycosaminoglycan e... |
ORPHA:505248 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hypersplenism, Hepatosplenomegaly, Impaired growth-hormone resp... |
OMIM:301068 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage, Panniculitis |
OMIM:301081 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Spider hemangioma, Hypoglycemia, Cyclic neutropenia, Chronic... |
OMIM:232240 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilation... |
ORPHA:163681 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Vasculitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Low-grad... |
ORPHA:50918 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platelet dense granules, Hep... |
OMIM:608233 |
| Snijders Blok-Campeau Syndrome |
|
Low-set ears, Broad-based gait, Attention deficit hyperactivity disorder, Unsteady gait, Motor st... |
OMIM:618205 |
| Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Decreased body weight, Abdominal pain, Tachycardia, Shock, Palpitations, Ecchymosis, An... |
ORPHA:340 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Diarrhea, Recurrent fever, Failure to thrive in infancy, Leukocytosis, Panniculitis, ... |
OMIM:617099 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Neutropenia, Decreased bod... |
OMIM:609053 |
| Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Malignant hyperthermia, Vomiting, Hypotension, Decreased liver function, Abnorma... |
ORPHA:466650 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Malabsorption, Macrocytic anemia, Aganglionic megacolon, Constipation, Esophageal at... |
OMIM:250250 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Low-set ears, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ... |
OMIM:616393 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Spastic gait, Hepatitis... |
ORPHA:415 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Pulmonary fibrosis, Abnormal pulmonary interstitial mo... |
OMIM:612387 |
| Rift Valley Fever |
|
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Abnormal blee... |
ORPHA:319251 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Microphallus, Gait ataxia, Self-mutilation, Hyperactivity, Micropenis, Motor stereotypy, Macrotia |
OMIM:300486 |
| Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Fever, Bruising susceptibility, Gastrointestinal infarct... |
ORPHA:761 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... |
ORPHA:909 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Lymphopenia,... |
OMIM:242840 |
| Mhc Class I Deficiency 1 |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic otitis media, Bronchiectasis |
OMIM:604571 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Vomiting, Right ventricular failure, Fever, Secondary hyperaldosteronism, Ab... |
ORPHA:90363 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Esophag... |
ORPHA:264580 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Hearing impairment, Impaired pain sensation, Bruxism, Vesicoureteral reflux, Pr... |
OMIM:606232 |
| Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... |
OMIM:600901 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, P... |
OMIM:620565 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Tremor, Aggressiv... |
OMIM:619312 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Cerebral cortical atrophy, Glycosuria, Stage 5 chron... |
OMIM:137920 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hearing impairment, Exaggerated startle response |
OMIM:620114 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... |
OMIM:617061 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Difficulty walking, Exercise-induced myoglobinuria, Dark urine, Re... |
ORPHA:99845 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... |
OMIM:617796 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, Noncompaction cardiom... |
ORPHA:508542 |
| Glycerol Kinase Deficiency |
|
Vomiting, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, L... |
OMIM:307030 |
| Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Lymphopenia, Corneal scarring, Neutropenia, Joint con... |
OMIM:618460 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Prolonged bleedin... |
ORPHA:1059 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Pneumonia, Oral-pharyngeal ... |
ORPHA:95455 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... |
ORPHA:3337 |
| Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... |
OMIM:227650 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Sensorineural hearing impairment, At... |
ORPHA:261197 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesi... |
ORPHA:2357 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria, Hearing impairment |
OMIM:619377 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... |
OMIM:216400 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Posteriorly rotate... |
ORPHA:171929 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Decreased liver function, Hepatic steatosis, Lethargy, Hepatomegaly, Feeding diff... |
OMIM:614922 |
| Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... |
OMIM:227645 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Cerebral atrophy, Low-molecular... |
OMIM:219800 |
| Trichinellosis |
|
Irritability, Lethargy, Apathy, Retinal hemorrhage, Nausea, Dysphagia |
ORPHA:863 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Hepatic steatosis, Weight loss, Hepatomegaly, Atrophic gastritis, Vasculi... |
OMIM:615846 |
| Waardenburg Syndrome Type 3 |
|
Hearing impairment, Atelectasis |
ORPHA:896 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, A... |
ORPHA:247598 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Episodic vomiting, Jaundice, Lethargy, Hypoglycemia |
OMIM:615751 |
| Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys, Prominent crus of helix, Protruding ear, Aggr... |
OMIM:619695 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... |
OMIM:227810 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Limb dystonia, EEG with frontal sharp slow waves, Sensorineural hearing ... |
ORPHA:457351 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, EEG with spike-wave complexes (2.5-3.5 Hz), Je... |
ORPHA:64280 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Vertigo, Paresthesia, Renal tubular aci... |
ORPHA:358 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Chronic otitis media, Self-injuriou... |
ORPHA:534 |
| Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,... |
ORPHA:774 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Kufor-Rakeb Syndrome |
|
Fever, Difficulty walking, Lethargy, Gait disturbance, Apathy, Bradykinesia, Dysphagia, Bowel inc... |
ORPHA:306674 |
| Netherton Syndrome |
|
Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney |
ORPHA:634 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Joint contracture, Neutropenia |
OMIM:620443 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Recurrent respiratory infec... |
OMIM:616579 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Abnormality of the pulmonary ... |
ORPHA:33001 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy, Pulmonary arterial hypertension, Failure to thrive, Feeding difficulties |
OMIM:605711 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... |
OMIM:133540 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment ... |
OMIM:609136 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Diarrhea, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic s... |
OMIM:256810 |
| Eisenmenger Syndrome |
|
Elevated jugular venous pressure, Abdominal distention, Hepatomegaly, Right ventricular failure, ... |
ORPHA:97214 |
| Acute Adrenal Insufficiency |
|
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Androgen insufficiency, Pri... |
ORPHA:95409 |
| X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... |
ORPHA:43 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Abnormal lung mor... |
ORPHA:60032 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Lethargy, Spastic ataxia, Increased mean corpuscular volume |
OMIM:277410 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Recurrent pneumonia, Cerebellar atrophy, Neurogenic bla... |
ORPHA:496641 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Acroparesthesia, Tip-toe gait, Impaired pain s... |
ORPHA:2614 |
| Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Esophagitis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Cockayne Syndrome |
|
Difficulty walking, Ataxia, Urinary incontinence, Optic disc pallor, Nephrotic syndrome, Progress... |
ORPHA:191 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Tremor, Aggressive behavio... |
OMIM:620494 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Difficulty walking, Exercise-induced myoglobinuria, Tip-toe gait, Waddling gait |
OMIM:607155 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Nephrocalcinosis, Abnormality of the urinary system, Global brain atrophy, Hearing ... |
ORPHA:369837 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Dilatation of the renal pelvis, Cerebellar atrophy, Interstitial emphysema, Dysmet... |
OMIM:619708 |
| Joubert Syndrome 6 |
|
Ataxia, Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis |
OMIM:610688 |
| Arthrogryposis, Distal, Type 2A |
|
Recurrent respiratory infections, Abnormal auditory evoked potentials, Cerebellar atrophy, Hearin... |
OMIM:193700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties in infancy, Abdominal distention, Neu... |
ORPHA:3260 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Cardiomyopathy, Lethargy, Ataxia, Flexion contracture, Feeding difficulties |
OMIM:201470 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hyperesthesia, Hearing... |
ORPHA:206436 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Low-set ears, Peripheral pulmonary artery stenosis, Head-banging, Recurr... |
OMIM:619575 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphology, Autoimmune thrombocytop... |
ORPHA:391487 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Umbilical hernia, Gait ataxi... |
ORPHA:33364 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Glandular hypospadias, Penile hypospadias, Micropenis, Hypospadias |
OMIM:300219 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury |
OMIM:618886 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Low-set ears, Abnormality of the outer ear, Cerebral atrophy, Overfriend... |
OMIM:616364 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Gastroesophageal reflux, Dilated cardiomyopathy, Camptodactyly of finger, Congenital hypothyroidi... |
OMIM:607872 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Recurrent respiratory infections, Abnormal urinary color |
ORPHA:90035 |
| Relapsing Polychondritis |
|
Atelectasis, Vertigo, Renal insufficiency, Sensorineural hearing impairment, Hematuria, Proteinur... |
ORPHA:728 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration, Renal cell carcinoma |
ORPHA:122 |
| Kasabach-Merritt Phenomenon |
|
Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, ... |
ORPHA:2330 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, EEG abnormality, Hyperactivity, Exaggerated startle response, Macrotia |
OMIM:617281 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Neutropenia |
OMIM:617050 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Low-set ears, Hair-pulling, Protruding ear, Hypsarrhythmia, Dysphagia, Hyperactivity, Urinary inc... |
ORPHA:447997 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
| Yellow Fever |
|
Diarrhea, Pancreatic hyperplasia, Excessive bleeding after a venipuncture, Elevated circulating a... |
ORPHA:99829 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Encephalitis Lethargica |
|
Lethargy, Fever, Bowel incontinence, Bradycardia |
ORPHA:83600 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... |
ORPHA:2035 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Nasogastric tube feeding, Difficulty walking, Inability to walk, Primary adren... |
ORPHA:139396 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Feeding difficulties in infancy, Delayed puberty, Neutropenia |
ORPHA:193 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Hypothyroidism, Raynaud phenomenon, Neutropenia, Autoimmune throm... |
OMIM:607944 |
| Brain-Lung-Thyroid Syndrome |
|
Unexplained fevers, Falls, Elevated circulating thyroid-stimulating hormone concentration, Failur... |
ORPHA:209905 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology |
OMIM:274150 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Poikiloderma With Neutropenia |
|
Telangiectasia, Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Cerebral cortical atrophy, Bronchiectasis |
ORPHA:1164 |
| Alström Syndrome |
|
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... |
ORPHA:64 |
| Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
| Postinfectious Vasculitis |
|
Pneumonia, Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Decreased nerve conduction velocity, Hyperphosphaturia, Renal tubular ... |
OMIM:277900 |
| Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Mild proteinuria |
OMIM:619685 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Global brain atrophy, Recurrent urinary tract infections, Inability to walk, Stereotypical hand w... |
OMIM:619229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Feeding difficulties |
OMIM:618232 |
| Addison Disease |
|
Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ... |
ORPHA:85138 |
| Herpes Simplex Virus Encephalitis |
|
Fever, Nausea and vomiting, Leukocytosis, Addictive alcohol use, Neutrophilia |
ORPHA:1930 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Nephroblastoma, Attention deficit hy... |
ORPHA:1001 |
| Hemophilia A |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... |
OMIM:306700 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Pneumonia, Chorea, Hematuria, Proteinuria |
ORPHA:1855 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... |
ORPHA:98870 |
| Cocaine Intoxication |
|
Acute kidney injury, Diffuse alveolar hemorrhage, Hematuria, Proteinuria, Pulmonary edema, Pneumo... |
ORPHA:90068 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Chronic constipation, Aggressive behavior, Pulmonary arterial hypertension, Neut... |
ORPHA:163956 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Conductive hearing impairment, Atelectasis, Recurrent bronchitis, Chronic otitis media... |
OMIM:244400 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, EEG with generalized slow activity, Macrotia, Optic nerve hypoplasia |
OMIM:617864 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Neutropenia, Rectal abscess, Chronic diarrhea |
OMIM:601495 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
| Choreoacanthocytosis |
|
Acanthocytosis, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss, Elevated circu... |
ORPHA:2388 |
| Whim Syndrome |
|
Cellulitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Abnormal small i... |
ORPHA:51636 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Facial palsy |
ORPHA:206549 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Motor stereotypy, Abnormal antihelix morphology |
ORPHA:261144 |
| X-Linked Creatine Transporter Deficiency |
|
Ileus, Self-mutilation, Aganglionic megacolon, Cachexia, Constipation, Hyperactivity, Ataxia, Ath... |
ORPHA:52503 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Rectal prolaps... |
OMIM:175200 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decr... |
ORPHA:760 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Joint hypermobili... |
OMIM:617301 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Recurrent respir... |
OMIM:208500 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... |
ORPHA:228308 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Fever, Leukocytosis, Splenomegaly, Abnormal basophil morphology,... |
ORPHA:521 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Pure Mitochondrial Myopathy |
|
Loss of ambulation, Recurrent myoglobinuria, Waddling gait |
ORPHA:254854 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Lethargy, Gait disturbance, Feeding difficulties in infancy, Ataxia |
ORPHA:395 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... |
OMIM:619293 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm... |
OMIM:233450 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Self-mutilation, Stereotypical hand wringing, Sensorineural hearing impairment, Agg... |
OMIM:212066 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
| Majeed Syndrome |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:77297 |
| Rothmund-Thomson Syndrome |
|
Diarrhea, Aplastic anemia, Vomiting, Abnormal dental enamel morphology, Anemia, Telangiectasia of... |
ORPHA:2909 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Chorioretinal scar, Malabsorption, Subarachno... |
OMIM:277175 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Duplicated collecting system, Optic atrophy, Abnormality of the outer ea... |
ORPHA:468678 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Sensorineural hearing impairment, Attention deficit hyperactivity d... |
ORPHA:435638 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... |
OMIM:112200 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Exocrine pancr... |
ORPHA:508488 |
| Hellp Syndrome |
|
Acute kidney injury, Pleural effusion, Proteinuria, Pulmonary edema, Hemoglobinuria |
ORPHA:244242 |
| Megalocornea-Intellectual Disability Syndrome |
|
Protruding ear, Motor stereotypy, EEG abnormality, Sensorineural hearing impairment |
ORPHA:2479 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Plague |
|
Inflammation of the large intestine, Depression, Diarrhea, Fever, Hypotension, Vomiting, Abnormal... |
ORPHA:707 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... |
OMIM:609152 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Cartilage-Hair Hypoplasia |
|
Failure to thrive, Cardiomyopathy, Malabsorption, Hepatomegaly, Aganglionic megacolon, Neutropeni... |
ORPHA:175 |
| Aymé-Gripp Syndrome |
|
Low-set ears, Cerebral cortical atrophy, Stenosis of the external auditory canal, Sensorineural h... |
ORPHA:1272 |
| Immunodeficiency 55 |
|
Lymphopenia, Diarrhea, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Agammaglobulinemia, X-Linked |
|
Chronic diarrhea, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocytopeni... |
OMIM:300755 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hearing impairment, Atelectasis, Difficulty walking, Inability to walk, Respi... |
ORPHA:365 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618354 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hearing impairment, Renal insufficiency, Proteinuria, Hydronephrosi... |
ORPHA:2750 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Nephrotic syndrome, Bronchiectasis, Bronchitis |
ORPHA:60 |
| Selective Igm Deficiency |
|
Cellulitis, Decreased proportion of transitional B cells, Cutaneous abscess, Fasciitis, Decreased... |
ORPHA:331235 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Low-set ears, Pain insensitivity, Broad-based gait, Cerebellar atrophy, Vesicoureteral reflux, Ga... |
OMIM:617330 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Papilledema, Micropenis |
OMIM:619471 |
| Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Abnormal dental enamel morphology,... |
ORPHA:221016 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria, Gait disturbance, Ataxia, Abnormal pulmonary interstitial morphology, Rec... |
ORPHA:77261 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Feeding difficulties, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Bradykinesia, Dy... |
OMIM:610217 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... |
ORPHA:424 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... |
ORPHA:91500 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Tor... |
ORPHA:300570 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squamous cell carc... |
ORPHA:424019 |
| Holoprosencephaly |
|
Optic atrophy, Abnormality of the urinary system, Chorea, Abnormal antihelix morphology, Proteinu... |
ORPHA:2162 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy, Macrotia |
OMIM:615656 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Lethargy, Temperature instability |
OMIM:620306 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... |
ORPHA:79330 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, N... |
OMIM:613179 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Vomiting, Failure to thrive, Hypoglycemia, Fever, Abnormal circulating androgen level, Increased ... |
ORPHA:90790 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... |
ORPHA:85327 |
| Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Renal hypoplasia, Atelectasis, Posteriorly rotated ears, Abnormal pinna morphology,... |
OMIM:269860 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Difficulty walking, Myoglobinuria |
OMIM:255125 |
| Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Revesz Syndrome |
|
Broad-based gait, Aplastic anemia, Macrocytic anemia, Neutropenia, Ataxia |
OMIM:268130 |
| Turcot Syndrome With Polyposis |
|
Ataxia, Hematochezia, Melena, Diarrhea, Pituitary adenoma, Vomiting, Adenomatous colonic polyposi... |
ORPHA:99818 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Inability to walk, Pontocerebellar atrophy, Recurrent lower respiratory tract infect... |
ORPHA:258 |
| Adult-Onset Still Disease |
|
Proteinuria, Pleuritis, Interstitial pneumonitis |
ORPHA:829 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with focal sharp waves, EEG with spike-wave complexes, Self-mutilation, Repetitive compulsive... |
ORPHA:522077 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Atelectasis, Renal insufficiency, Dysphagia, Microscopic hematuria |
ORPHA:319213 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Renal agenesis, Cerebral atrophy, Sensorineural hearing impairment, Hydronephrosis,... |
OMIM:301040 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy |
ORPHA:457279 |
| Tay-Sachs Disease |
|
Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... |
ORPHA:845 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Hearing impairment, Cerebral atrophy, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Polycythemia, Facial tel... |
OMIM:600376 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Failure to thrive, Recurrent fever, Umbilical hernia, Microcytic anemia, Leukocytosis, Re... |
ORPHA:99843 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Thyroid adenoma, Diarrhea, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:131100 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Fever, Hypoxemia |
ORPHA:723 |
| Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Prolonged prothrombin ti... |
ORPHA:96168 |
| Systemic Lupus Erythematosus |
|
Chorea, Hematuria, Proteinuria, Lupus nephritis, Anorexia, Pyuria |
ORPHA:536 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Cerebral cortical atrophy, Hydronephrosis, Motor stereotypy, Attention... |
ORPHA:464311 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... |
OMIM:263200 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo... |
ORPHA:70475 |
| Down Syndrome |
|
Gastroesophageal reflux, Polycythemia, Umbilical hernia, Obesity, Type II diabetes mellitus, Acut... |
ORPHA:870 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Depression, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Feeding difficulti... |
OMIM:234200 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia |
OMIM:615802 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Unilateral renal agenesis, Abnormal renal collecting system morphology, ... |
ORPHA:468631 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... |
ORPHA:99819 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Chronic otitis media, Atelectasis |
ORPHA:2314 |
| Williams Syndrome |
|
Overfriendliness, Sensorineural hearing impairment, Ataxia, Chronic otitis media, Macrotia, Atrop... |
ORPHA:904 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Difficulty walking, Vesicoureteral reflux, Hydronephrosis, Motor stereotypy, Microp... |
OMIM:618653 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia |
OMIM:605735 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, Hematochezia, Ce... |
OMIM:617718 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis |
ORPHA:922 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention |
ORPHA:103910 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... |
ORPHA:476126 |
| Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Pleural effusion, Hypercalciuria, Optic neuropathy, Anorexia, Abnormal pulmonary inter... |
OMIM:181000 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
| Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Recurrent fever, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's di... |
OMIM:249100 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Cerebral cortical atrophy, Hydronephrosis, Motor stereotypy, Renal cys... |
ORPHA:464306 |
| Gaucher Disease |
|
Hearing impairment, Hematuria, Proteinuria, Ataxia, Abnormal pulmonary interstitial morphology, P... |
ORPHA:355 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, ... |
ORPHA:157794 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Atelectasis, Peripapillary atrophy, Renal neoplasm, Mixed hearing impairment, Poste... |
ORPHA:536467 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrocalcinosis, Proteinuria, Nephrotic syndrome, Pleuritis |
ORPHA:342 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure, Arterial rupture,... |
OMIM:225400 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Meier-Gorlin Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Hearing impairment, Incomplete partition of... |
OMIM:224690 |
| Japanese Encephalitis |
|
Diarrhea, Vomiting, Fever, Anorexia, Elbow flexion contracture, Neutrophilia, Abdominal pain, Ina... |
ORPHA:79139 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Hearing impairment, Neurodegeneration, Hematuria, Hypsarrhythmia, Ataxia, Bilat... |
OMIM:619475 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Unsteady gait, Motor stereotypy, Loss of ambulation |
OMIM:616682 |
| Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... |
OMIM:615574 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears |
OMIM:617527 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... |
ORPHA:798 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Hypospadias, Pneumonia, Abnormality of the urinary system, Conductive he... |
ORPHA:353281 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:309000 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Hepatic cysts, Parathyr... |
ORPHA:805 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Gene... |
ORPHA:79474 |
| Floating-Harbor Syndrome |
|
Low-set ears, Abnormal temper tantrums, Nephrocalcinosis, Broad-based gait, Dilatation of the ren... |
ORPHA:2044 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas... |
OMIM:174900 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Atelecta... |
OMIM:613177 |
| Mend Syndrome |
|
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity |
ORPHA:401973 |
| Sweet Syndrome |
|
Non-periodic recurrent fever, Inflammation of the large intestine, Dilated cardiomyopathy, Leukoc... |
ORPHA:3243 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hypsarrhythmia, Motor stereotypy, EEG with generalized slow activity |
OMIM:300672 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Fever, Neutrophilia |
OMIM:614204 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... |
ORPHA:90349 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Acute kidney injury, Oliguria, Anuria, Respiratory tract infection, Decreased urine ou... |
ORPHA:544482 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response |
ORPHA:79255 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia |
OMIM:271510 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Nmda Receptor Encephalitis |
|
Oculogyric crisis, Orthostatic tachycardia, EEG with temporal sharp slow waves, Opisthotonus, Ort... |
ORPHA:217253 |
| Meier-Gorlin Syndrome 4 |
|
Low-set ears, Emphysema, Microtia |
OMIM:613804 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Hyper-Igd Syndrome |
|
Diarrhea, Vomiting, Recurrent fever, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia... |
OMIM:260920 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Dysphagia, Ataxia |
OMIM:607625 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Self-injurious behavior, Optic atrophy, Frequent temper tantrums, Sensorineural hea... |
OMIM:619512 |
| Biotinidase Deficiency |
|
Lethargy, Ataxia |
ORPHA:79241 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Optic atrophy, Otosclerosis, Conductive hearing impairment, Decreased n... |
ORPHA:580 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly, Stomatitis |
OMIM:612852 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Brain atrophy, A... |
ORPHA:333 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Low-set ears, Inability to walk, Recurrent hand flapping, Posteriorly ro... |
OMIM:615485 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Cupped ear, Gait ataxia, Thickened helices, Motor stereotypy |
OMIM:610954 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Sinus tachycardia, Mitral regurgitation, Hypertension, Pulmonary ... |
OMIM:614008 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Atelectasis, Inability to walk, Corpus callosum atrophy, Hypsarrhythmia, Pulmonary artery atresia... |
OMIM:620371 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Common Variable Immunodeficiency |
|
Pneumonia, Recurrent respiratory infections, Emphysema, Recurrent bronchitis, Otitis media, Chron... |
ORPHA:1572 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Emphysema, Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia o... |
ORPHA:289 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Bladder diverticulum, Peripheral pulmonary artery stenosis, Recurrent respiratory infe... |
OMIM:219100 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Thrombocytopenia, Ataxia, Anemia, Gastrointestinal telangiectasia, Retinal t... |
OMIM:612199 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... |
ORPHA:329971 |
| Digeorge Syndrome |
|
Low-set ears, Unilateral renal agenesis, Recurrent pneumonia, Atelectasis, Recurrent otitis media... |
OMIM:188400 |
| Chand Syndrome |
|
Hydroureter, Atelectasis, Ataxia |
ORPHA:1401 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Exaggerated startle response |
OMIM:620451 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Chronic diarrhea, Corneal neovascularization, Melena |
OMIM:158310 |
| Autosomal Dominant Cutis Laxa |
|
Low-set ears, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emp... |
ORPHA:90348 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Recurrent otitis media, EEG with central focal spikes, Aggressive... |
OMIM:301066 |
| Posterior Urethral Valve |
|
Lethargy, Hypertension |
ORPHA:93110 |
| Hydranencephaly |
|
Atrophic pituitary gland, Lethargy, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Transient neutropenia, Inguinal hernia, Camptodactyly, Chronic neutrop... |
ORPHA:500095 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Low-set ears, Broad-based gait, Short ear, Gait ataxia, Dysmetria, Protruding ear, Aggressive beh... |
OMIM:614756 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Meier-Gorlin Syndrome 6 |
|
Conductive hearing impairment, Emphysema, Stenosis of the external auditory canal, Recurrent resp... |
OMIM:616835 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Aspartylglucosaminuria |
|
Diarrhea, Mitral regurgitation, Hernia, Neutropenia, Hepatomegaly, Vacuolated lymphocytes |
OMIM:208400 |
| Thauvin-Robinet-Faivre Syndrome |
|
Large for gestational age, Transient neutropenia, Inguinal hernia |
OMIM:617107 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Hepatoblastoma, Iron defi... |
ORPHA:261584 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Impaired pain sensation, Self-mutilation |
OMIM:619005 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Severe failure to thrive, Weight loss, Female hypogo... |
ORPHA:740 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Acute kidney injury, Anuria |
ORPHA:90038 |
| Wiedemann-Steiner Syndrome |
|
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:319182 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Unilateral renal agenesis, Optic atrophy, Global brain atrophy, Hearing impairment,... |
ORPHA:500150 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Sensorineural hearing impairment, Abnormality of the kidney, Hypospadias, Motor ste... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Sensorineural hearing impairment, Abnormality of the kidney, Hypospadias, Motor ste... |
ORPHA:353277 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Van Esch-O'Driscoll Syndrome |
|
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Microtia |
OMIM:301030 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis |
OMIM:619777 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimul... |
OMIM:618183 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Hypospadias, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelv... |
OMIM:619522 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Cystocele, Hemothorax, Nodular ... |
OMIM:130050 |
| Kawasaki Disease |
|
Proteinuria, Abnormal pulmonary interstitial morphology, Sterile pyuria, Recurrent pharyngitis |
ORPHA:2331 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... |
ORPHA:177907 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Conductive hearing impairment, Renal agenesis, Hearing impairment, Cer... |
ORPHA:821 |
| 20Q13.33 Microdeletion Syndrome |
|
Failure to thrive in infancy, Hematochezia, Small for gestational age |
ORPHA:261311 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Recurrent otitis media, Stereotypical body rocking, Gait ataxia, Abnormal Eusta... |
ORPHA:513456 |
| Kinsship Syndrome |
|
Low-set ears, Bruxism, Motor stereotypy |
OMIM:619297 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme... |
ORPHA:649 |
| Immunodeficiency 89 And Autoimmunity |
|
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening |
OMIM:619632 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Protruding ear, Motor stereotypy, Hy... |
OMIM:309590 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Small earlobe, Optic atrophy, Prominent antihelix, Recurrent otitis media, Underdev... |
OMIM:616268 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Hearing impairment, Recurrent ... |
OMIM:245150 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Small for gestational age, Neutropenia |
ORPHA:93357 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
EEG with generalized slow activity, Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Abnormal optic disc morphology, Facial palsy, Motor stereotypy, Optic nerve h... |
ORPHA:508498 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pulmonary fibrosis, Brain atrophy, Atelectasis |
OMIM:618278 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Motor stereotypy |
ORPHA:508533 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Gastrointestinal carcinoma, Hematochezia, Mitral regurgitation, Juvenile gastrointesti... |
OMIM:175050 |
| Glycine Encephalopathy |
|
Lethargy, Poor suck |
ORPHA:407 |
| Neonatal Marfan Syndrome |
|
Low-set ears, Crumpled ear, Emphysema |
ORPHA:284979 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Sensorineural hearing imp... |
ORPHA:2152 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypsarrhythmia, EEG abnormality, Overfolded helix, Posteriorly rotated ears |
OMIM:301044 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
| Coffin-Siris Syndrome 12 |
|
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... |
OMIM:619325 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Sensorineural hearing imp... |
ORPHA:261537 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Abnormal pulmonary interstitial morphology, Cerebral atrophy, Recurrent urinary tract ... |
OMIM:613658 |
| Proteus Syndrome |
|
Low-set ears, Neoplasm of the lung, Pulmonary cyst, Long penis, Bronchogenic cyst, Abnormal lung ... |
ORPHA:744 |
| Ogden Syndrome |
|
Low-set ears, Recurrent otitis media, Protruding ear, Dysphagia, Torticollis, Motor stereotypy, M... |
OMIM:300855 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Self-injurious behavior, Tremor, Sensorineural hearing impairment, Protruding ear, ... |
OMIM:612474 |
| Neurofibroma |
|
Intestinal bleeding, Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology |
ORPHA:252183 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Papillary renal cell carcinoma, Abnormality of the pulmonary artery |
ORPHA:363618 |
| Nocardiosis |
|
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Anorexia, Pleuritis |
ORPHA:31204 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts, Ataxia... |
ORPHA:79318 |
| Viss Syndrome |
|
Low-set ears, Pulmonary artery aneurysm, Cupped ear, Emphysema, Exostosis of the external auditor... |
OMIM:619472 |
| Wolf-Hirschhorn Syndrome |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Sensorineural hearing imp... |
OMIM:194190 |
| Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal adenocarcinoma, Ab... |
ORPHA:424016 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Abnormal pinna m... |
OMIM:614437 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Pleural effusion, Atelectasis |
OMIM:306400 |
| Primrose Syndrome |
|
Self-injurious behavior, Superiorly displaced ears, Hearing impairment, Aggressive behavior, Atte... |
OMIM:259050 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Marfan Syndrome |
|
Emphysema, Attention deficit hyperactivity disorder, Pulmonary artery dilatation, Spontaneous pne... |
ORPHA:558 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
| Marfan Syndrome |
|
Emphysema, Pneumothorax, Pulmonary artery dilatation |
OMIM:154700 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Recurrent otitis media, Bruxism, Sensorineural hearing impairment, Aganglionic meg... |
ORPHA:261552 |
