| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| 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, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Hypogl... |
ORPHA:324575 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300425 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fe... |
ORPHA:276575 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:607373 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... |
ORPHA:276556 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Sensorineural hearing impairment, Proteinuria, Gait disturbance |
ORPHA:2820 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social in... |
ORPHA:329249 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Pol... |
ORPHA:71529 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Pick Disease Of Brain |
|
Diminished motivation, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Apathy, E... |
OMIM:172700 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Apathy, Weight loss, Depressio... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Diarrhea, Weight loss, Irritability, Vomiting, Lethargy, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Distal sensory imp... |
OMIM:614455 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
| Hematuria, Benign Familial, 2 |
|
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... |
OMIM:620320 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Galloway-Mowat Syndrome 5 |
|
Proteinuria, Ataxia, Stage 5 chronic kidney disease, Large earlobe, Focal segmental glomeruloscle... |
OMIM:617731 |
| Kleine-Levin Syndrome |
|
Fever, Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hy... |
ORPHA:33543 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Attention deficit hyperacti... |
ORPHA:369873 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreati... |
ORPHA:276608 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:95717 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly, Hyperac... |
ORPHA:525731 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Adult Idiopathic Neutropenia |
|
Fever, Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous ... |
ORPHA:2688 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... |
OMIM:614650 |
| Immunodeficiency 97 With Autoinflammation |
|
Fever, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinop... |
OMIM:619802 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Cednik Syndrome |
|
Proteinuria, Ataxia, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Macroti... |
ORPHA:66631 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Inability to walk, Feeding diffic... |
ORPHA:314911 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300495 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
ORPHA:79239 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Central Diabetes Insipidus |
|
Fever, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Depression, Lethargy, Polydipsia, Fa... |
ORPHA:178029 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Frontotemporal Dementia |
|
Diminished motivation, Irritability, Disinhibition, Inappropriate laughter, Apathy, Polyphagia |
OMIM:600274 |
| Immunodeficiency 32B |
|
Fever, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidati... |
OMIM:226990 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Anorexia |
ORPHA:79283 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, D... |
OMIM:229050 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, EEG abnormality, Prolinuria, Hydroxy... |
OMIM:239500 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukopenia, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia, Leukocytosis, Dilat... |
ORPHA:20 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic... |
OMIM:614170 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Feeding difficulties in infancy, Obesity, Inappropriate ... |
ORPHA:411515 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Abdominal... |
ORPHA:314811 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
| Riboflavin Deficiency |
|
Lethargy, Poor suck, Hypoglycemia, Hypothermia |
OMIM:615026 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Thrombocytopenia, Feed... |
ORPHA:79312 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Diar... |
ORPHA:49827 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Fever, Acute pancreatitis, Abnormal bleeding, Poor appetite, Abdomin... |
ORPHA:319218 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Poor ... |
OMIM:615547 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala... |
ORPHA:79301 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, ... |
OMIM:619428 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... |
OMIM:619290 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:71518 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, Hy... |
ORPHA:263455 |
| Cyclic Neutropenia |
|
Fever, Cyclic neutropenia |
OMIM:162800 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:617830 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Nausea and vomiting, Petechiae, Epistaxis, Cere... |
ORPHA:99828 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Feeding difficulties in infancy, Abdominal distention, El... |
ORPHA:226313 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting, Ataxia |
ORPHA:622 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Feeding difficulties in infancy, Polyphagia, Obesity, Attention deficit hype... |
ORPHA:261229 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia, Sensorineural hearing impairment |
ORPHA:225 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:301006 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Constipation, Pol... |
ORPHA:228402 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Pericarditis, Ataxia, Anorexia, Cachexia, Myoca... |
ORPHA:3452 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Ataxia, Epistaxis, Cardiac arrest, Abdominal pa... |
ORPHA:99745 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Feeding difficulties... |
ORPHA:90674 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Abnormal... |
OMIM:618347 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abdominal pain, Abnormal biliary tract morphology, Z... |
ORPHA:438274 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Feeding difficulties, Lethargy, Episodic vomiting |
OMIM:618224 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Hypospadias, Sensorineural hearing impairment, Unste... |
OMIM:214100 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Nephrotic syndrome, Gait disturbance, Nephropathy,... |
ORPHA:1192 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... |
OMIM:615244 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Hypothermia |
OMIM:610006 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Attenti... |
OMIM:500007 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre... |
ORPHA:79319 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Fever, Decreased circulating progesterone, Unsteady gait, Primary gonadal insufficiency, Gait dis... |
OMIM:603896 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Temp... |
ORPHA:391673 |
| Angelman Syndrome |
|
Vomiting, Gastroesophageal reflux, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Constipation... |
ORPHA:72 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Feeding difficulties, Decrease... |
OMIM:246900 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment |
ORPHA:79087 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Dysphagia, Lethargy, Hypertrop... |
OMIM:613561 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Meningococcal Meningitis |
|
Fever, Shock, Projectile vomiting, Hypothermia, Anorexia, Irritability, Hypotension, Lethargy, Pe... |
ORPHA:33475 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Feeding difficulties, Cardiomyopathy, Lethargy, Failure to thrive, Hepatic ... |
ORPHA:26792 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms, EEG abnormality |
OMIM:617820 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... |
OMIM:619386 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abnormal cardiac ventricular func... |
ORPHA:2394 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hypothermia, Ventricular tachycardia, Card... |
ORPHA:159 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Fever, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte ... |
ORPHA:324636 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Cerebel... |
OMIM:606054 |
| Ravine Syndrome |
|
Anorexia, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... |
OMIM:615285 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Ataxia, Irritability, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vo... |
OMIM:618226 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Recurrent fever,... |
OMIM:603552 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Low-grade fever, Lethargy, Has... |
ORPHA:199299 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Ataxia, Hypothermia, Diarrhea, Gait disturbance, Arrhythmia |
ORPHA:29822 |
| Congenital Enterovirus Infection |
|
Fever, Abnormal bleeding, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leukocyt... |
ORPHA:292 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Feeding difficulties, Poor suck, Dysphagia |
ORPHA:1935 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums, Poor suck |
ORPHA:171829 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Limb at... |
ORPHA:251282 |
| Staphylococcal Necrotizing Pneumonia |
|
Fever, Shock, Diabetes mellitus, Neutrophilia, Leukocytosis, Hypoxemia, Leukopenia, Addictive alc... |
ORPHA:36238 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Vomiting, Neutrope... |
OMIM:251000 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Abdominal pa... |
ORPHA:2494 |
| Acute Promyelocytic Leukemia |
|
Anorexia, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Abdominal pain, Leukocytosis, A... |
ORPHA:520 |
| Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Dysphagia, Feeding difficulties, Irritability, Neutropen... |
OMIM:618253 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Feeding difficulties, Difficulty walking, Lethargy |
OMIM:617829 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
| Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul... |
ORPHA:2260 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... |
OMIM:308940 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Pericarditis, Abnormal atrioventricular conduct... |
ORPHA:732 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Bloody diarrhea, Leukopenia, Vomiting, Lethargy, Abnormal lymphocyte morph... |
ORPHA:99826 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance, Feeding difficulties |
ORPHA:26 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Feeding difficulties in infancy, Elevated circulating thyroid-stimulating ho... |
ORPHA:90673 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Failure to thrive |
OMIM:274270 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... |
ORPHA:398069 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Sensorineural heari... |
OMIM:617575 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal poly... |
ORPHA:144 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Small for gestat... |
ORPHA:26793 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Irritability, Dysphagia, Lethargy, Recurrent fever |
OMIM:233910 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Recurrent fever, Decreased body weight |
OMIM:620085 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Fever, Ataxia, Feeding difficulties, Gait ataxia, Irritability, Bradykinesia, Constipation, Lethargy |
ORPHA:101150 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Ataxia, Senso... |
OMIM:607426 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural effusion... |
OMIM:603278 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Feeding di... |
OMIM:606407 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertensio... |
ORPHA:64743 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Cachexia, Diarrhea, Distal art... |
ORPHA:42 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Respiratory tract infection, Chronic kidney disease, Stage 5 c... |
ORPHA:567546 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Ataxia, Bowel incontinence, Hypothermia, Precocious puber... |
ORPHA:58 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal int... |
OMIM:606528 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Aggressive behavior |
OMIM:237310 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy, Small for gestational age, Feeding difficulties |
OMIM:617065 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Insulin resistance, Diarrhea, H... |
ORPHA:230 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea,... |
OMIM:620270 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Aggressive behavior, Sensorineural hearing impairment, Chronic kidney disease, Tubul... |
ORPHA:488627 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Abnormal erythrocyte morphology, Choreoathetosis, Lethargy |
ORPHA:71277 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Choreoathe... |
OMIM:608643 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Failure to thrive |
OMIM:613501 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Inability to walk, Feeding difficulties |
OMIM:620368 |
| Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Abnormal bl... |
ORPHA:90062 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
| Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
| Primary Erythromelalgia |
|
Leukemia, Vasculitis, Hypothermia |
ORPHA:90026 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I... |
OMIM:613496 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis, ... |
ORPHA:289916 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... |
OMIM:600795 |
| Brittle Cornea Syndrome 1 |
|
Joint laxity, Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Glomerulopathy |
ORPHA:2668 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:608049 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiomyopathy, Cirrhosis, Neutrope... |
OMIM:604250 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia ... |
ORPHA:75564 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Nasogastric tube feeding, ... |
ORPHA:398079 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98793 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy... |
OMIM:275350 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Abnormality of the kidney, Proteinuria, Renal agenesis, Chronic kidney dis... |
ORPHA:261222 |
| Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Decreased body mass ind... |
ORPHA:247585 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop... |
ORPHA:79230 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, I... |
ORPHA:2089 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vom... |
OMIM:600649 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Acute pancreat... |
OMIM:608594 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemi... |
OMIM:617872 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177904 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Feeding difficulties, Irritability, Truncal ataxia, Lethargy,... |
OMIM:250620 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177901 |
| Hypoglycemia, Leucine-Induced |
|
Irritability, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Lower-limb joint contracture, Difficulty walking |
OMIM:613710 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Restless legs, Somatic sensory... |
ORPHA:101085 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Feeding difficulties... |
ORPHA:71212 |
| Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia |
OMIM:606777 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Fever, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrh... |
ORPHA:486 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Lethar... |
OMIM:557000 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Fever, Neonatal insulin-depen... |
ORPHA:1667 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Abdominal pain, Abnormality of the spleen, Diar... |
ORPHA:79456 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Fever, Ataxia, Epistaxis, Abnormali... |
ORPHA:33226 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Hypoxemia, ... |
ORPHA:238459 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204100 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Ataxia, Portal hypertension, Retinal telangiectasia, E... |
OMIM:617341 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Failure to thrive, Anemia |
OMIM:616740 |
| Neonatal Alloimmune Neutropenia |
|
Fever, Maternal diabetes, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Tempera... |
ORPHA:464370 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Lipodystrophy... |
OMIM:269700 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, B lymphocytopenia, Recurren... |
OMIM:150550 |
| Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
| Sepsis In Premature Infants |
|
Gastrointestinal dysmotility, Vomiting, Neutropenia, Abnormal bleeding, Hepatomegaly, Leukocytosi... |
ORPHA:90051 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Dysmetria, Dysdiadochokinesis, Decreased liver function, Truncal... |
OMIM:238970 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Choreoathetosis, ... |
ORPHA:27 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I... |
OMIM:304790 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
| Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Cer... |
OMIM:619609 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Poor appetite, Splenomegaly, Diarrhea, Irritability, Hypogonadism, Emotiona... |
OMIM:201100 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... |
ORPHA:363400 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Dysmetria, Gait ataxia, Aspiration pneumonia, Ataxia, Impaired distal vi... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Fever, Splenomegaly, Thrombo... |
ORPHA:158057 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Hypothermia, Ventricular tachycardia, Atrioventricular block... |
OMIM:601005 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hype... |
ORPHA:465508 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:656 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d... |
ORPHA:90291 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Ataxia, Anorexia, Weight loss, Irritability, Lethargy, Thrombocytopenia |
ORPHA:79242 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy, Pro... |
OMIM:616483 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... |
OMIM:603909 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Dilated cardiomyopathy, Gait imbalance, Lethargy |
OMIM:618120 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurren... |
ORPHA:2126 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Inability to walk, Functional abnormality of the bladder, Gait ... |
DECIPHER:45 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Fever, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-... |
ORPHA:169154 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Ataxia, Hypothermia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated ca... |
ORPHA:79282 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Lethargy, Failure to thrive, Anemia |
ORPHA:28 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Abdominal pain, Perito... |
ORPHA:343 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia,... |
OMIM:254900 |
| Imerslund-Grasbeck Syndrome 1 |
|
Somatic sensory dysfunction, Microscopic hematuria, Proteinuria, Paresthesia |
OMIM:261100 |
| Idiopathic Intracranial Hypertension |
|
Obesity, Depression, Vomiting, Abnormal emotion, Lethargy, Nausea |
ORPHA:238624 |
| Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, EEG abnormality, Athetosis, Dystonia, Recurrent hand flapping |
OMIM:618141 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephrotic syndrome,... |
ORPHA:330001 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Episodic ... |
OMIM:201475 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Feeding difficulties, Normochromic anemia, Gastroesophageal reflux, Lethargy, Ne... |
OMIM:614857 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... |
OMIM:618913 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma... |
ORPHA:2869 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Bipolar affective disorder, Gastroesophageal reflux, Compulsive behaviors, Attenti... |
OMIM:619927 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:567548 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu... |
ORPHA:100082 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
| Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Nephropathy, Nephritis |
ORPHA:182050 |
| Chromosome 22Q13 Duplication Syndrome |
|
Bipolar affective disorder, Impulsivity, Attention deficit hyperactivity disorder, Emotional labi... |
OMIM:615538 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardi... |
OMIM:212138 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Nasogastric tube feeding in infancy, Xeros... |
ORPHA:739 |
| Bor Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... |
ORPHA:107 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:436271 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Vomiting, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618228 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Otitis media, High-frequency hearing impairment |
OMIM:300455 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Sensorineural hearing impairment, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619690 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Ataxia, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria,... |
ORPHA:99885 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compression... |
ORPHA:276621 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Fever, Cerebral hemorrhage, Diffuse alveolar hemorr... |
ORPHA:464321 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204000 |
| Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:619155 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Tachycardia, Ataxia, Aggressive behavior, Diarrhea, Dilated cardiomyopathy, Gait at... |
OMIM:618321 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia |
OMIM:618683 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Weight loss, Vomiting, Lethargy, Failure to thrive |
OMIM:143880 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Neutropenia, Intractable diarrhea, Failure to thrive... |
OMIM:617475 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Malabsorption, Feeding difficulties in in... |
ORPHA:3463 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Eye poking |
OMIM:613835 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Fever, Abdominal pain, Splenomegaly, ... |
ORPHA:91138 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Proximal renal tubular aci... |
OMIM:146255 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Gastroesophageal refl... |
OMIM:156200 |
| Rett Syndrome |
|
Inability to walk, Bradykinesia, Agitation, Cholecystitis, Increased serum leptin, Gait disturban... |
ORPHA:778 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Feeding difficulties, Hypertension, Abnormality of the liver, In... |
ORPHA:2169 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... |
ORPHA:100080 |
| X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Failure to thrive, Malabsorption, Thrombocytopenia,... |
ORPHA:47 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Central posterior corneal opacity, Abnormal ... |
OMIM:244600 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:618774 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
| Griscelli Syndrome Type 2 |
|
Fever, Hepatomegaly, Pancytopenia, Nausea and vomiting, Splenomegaly, Jaundice, Hemophagocytosis,... |
ORPHA:79477 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir... |
ORPHA:453533 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypothermia, Aggressive behavior, Flex... |
ORPHA:17 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Abn... |
ORPHA:398124 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Proteinuria, Ataxia, Nephrotic syndrome, Athetosis, Gait distur... |
ORPHA:834 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynau... |
ORPHA:247691 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
| Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia |
ORPHA:397941 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, A... |
ORPHA:98826 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr... |
ORPHA:3282 |
| Maple Syrup Urine Disease |
|
Ataxia, Hypoglycemia, Feeding difficulties in infancy, Vomiting, Lethargy, Pancreatitis |
OMIM:248600 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormality of the gastrointes... |
ORPHA:85450 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Glucose intolerance, Abnormality of the liver, Gastroesophageal reflux, Lethargy, Hy... |
ORPHA:254892 |
| Autosomal Agammaglobulinemia |
|
Fever, Failure to thrive, Malabsorption, Diarrhea, Hepatitis, Neutropenia, Cellulitis |
ORPHA:33110 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Neutropenia, Decreased... |
OMIM:619705 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Inability to walk, Stage 5 chronic kidney disease, Bilateral re... |
OMIM:166300 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolerance, Compulsive beha... |
OMIM:612469 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... |
OMIM:256550 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Elbow contracture, Feeding difficulties, Gastroesophageal reflux, Lethargy, Failure to thrive, Po... |
OMIM:611523 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Ataxia, Hypothermia, Atrial fibri... |
ORPHA:31826 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia... |
OMIM:615387 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... |
ORPHA:2298 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Bipolar affective disorder, Anorexia, Aggressive behavior, Abnor... |
ORPHA:3077 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Feeding difficulties, Prolonged prothro... |
OMIM:618329 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Vomiting, Lethargy, Hepatic steatosis |
OMIM:201450 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal ... |
OMIM:220110 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Vomiting, Ataxia |
OMIM:618225 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Glycosuria, N... |
OMIM:613404 |
| Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Syncope, Gastroesophageal reflux, Recurrent aphthous stomatitis... |
OMIM:616260 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemo... |
OMIM:301078 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Gait disturbance, Nep... |
ORPHA:213 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hepatomegaly, Tachycardia, Hypoglycemia, Irritability, Lethargy |
OMIM:229700 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Gait disturbance, Inappropriate laughter, Thick... |
OMIM:614104 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Overfolded heli... |
OMIM:619092 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Fever, Inability to walk, Gait ataxia, Irritability, Vomiting, Dysphagia, Lethargy |
OMIM:607483 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia, Gait disturbance, Lethargy, Failure to thrive |
OMIM:236270 |
| Zygomycosis |
|
Fasciitis, Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Brain absc... |
ORPHA:73263 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Leth... |
ORPHA:156 |
| Aregenerative Anemia |
|
Fever, Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emot... |
ORPHA:101096 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Hypothermia, Feeding difficulties |
OMIM:614654 |
| Citrullinemia Type I |
|
Ataxia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Hepatic failure, Lethargy, Failu... |
ORPHA:247525 |
| Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Fever, Pancytopenia, Small for gestational age, Transient ischemic attack, Thrombo... |
OMIM:242900 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Microcytic anemia, Pulmonary ... |
ORPHA:90308 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Tachycardia, Hypertensive crisis, Hypothermia, Pulmonary em... |
ORPHA:94093 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated ci... |
OMIM:218700 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Ataxia, Neutropenia |
OMIM:616949 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Abdominal pain, Perianal abscess, Peritonitis, Periodic fever, Enterocolitis,... |
ORPHA:2686 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Choreoathetosis, Large earlobe, ... |
ORPHA:2715 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Hypothermia, Feeding difficulties, Bradycardia, Joint contracture |
OMIM:614498 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... |
ORPHA:746 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia,... |
ORPHA:248111 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Fever, Nausea ... |
ORPHA:36426 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia, Sensorineural hearing impairment, Hemat... |
ORPHA:36412 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Petechiae, Splenomegaly, Jaundice, Thrombocyt... |
ORPHA:540 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Gastroesophageal reflux, Cardiac arrest, Hypothermia |
ORPHA:168593 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... |
ORPHA:35878 |
| Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Monocytosis, Inflammation of the large intestine, C... |
OMIM:619281 |
| Thyroid Dyshormonogenesis 1 |
|
Constipation, Umbilical hernia, Hypothyroidism, Lethargy, Goiter |
OMIM:274400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Feeding difficulties in infancy, Small for gestational age, Lethargy |
OMIM:610498 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... |
ORPHA:99147 |
| Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive mannerisms, ... |
ORPHA:561854 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic diarrhea |
OMIM:615592 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Conductive hearing impa... |
OMIM:616726 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Poor appetite, ... |
ORPHA:35858 |
| Letterer-Siwe Disease |
|
Fever, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Sto... |
OMIM:246400 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Hypothermia, Feeding difficulties in inf... |
OMIM:618775 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Pleuritis, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vomiting, Lethargy, Failu... |
OMIM:210200 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... |
ORPHA:95433 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apathy, Polyphagia |
OMIM:607485 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Increased susceptibility to f... |
ORPHA:90354 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Ataxia, Neonatal hypoglycemia, Congestive heart failure, Flexion contracture, ... |
OMIM:616271 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Thrombocytopenia, Macrothrombocytopenia, Neutropenia, Subcutaneous ... |
OMIM:603585 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Feeding difficulties, Choreoathetosis, Cardiomyopa... |
ORPHA:445038 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Fever, Hypoglycemia, Elevat... |
OMIM:608836 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Fever, Lethargy |
ORPHA:163703 |
| Trisomy 18P |
|
Pyloric stenosis, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Chronic diarrhea, Chronic constipation... |
OMIM:142680 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Letha... |
OMIM:251110 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Feeding difficulties in infancy, Steatorrhea, Neutropenia, Exocrin... |
OMIM:618752 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compression... |
ORPHA:29072 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Hypertension, Delayed puberty, Episodic hemolytic ane... |
ORPHA:251004 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Shyness, Hypothyroidism, ... |
ORPHA:449291 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Nausea and vom... |
ORPHA:537 |
| Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Stercoral ulcer, Bloody diarrhea, Hematochezia, Chronic constipa... |
ORPHA:209964 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Protein avoidance, Irritability, Vomiting, Lethargy, Failure to thrive |
OMIM:237300 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Fever, Gastritis, Prolonged bleeding... |
ORPHA:809 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Luscan-Lumish Syndrome |
|
Shyness, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair... |
ORPHA:1307 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Low-set ears, Renal dysplasia |
OMIM:191830 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment |
OMIM:619877 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Absc... |
ORPHA:642 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... |
ORPHA:79085 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Posteriorly rotated ears, Proteinuria |
ORPHA:2143 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Sensorineural hearing impairment, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Flexion contracture, Feeding difficulties, Irritability, Lethargy |
OMIM:617105 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Inguinal hernia, Bipolar affective disorder, Aggressive behavior, Unsteady gait, F... |
ORPHA:485350 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Pseudohypoparathyroidism Type 1C |
|
Abdominal symptom, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79444 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Joint hemor... |
ORPHA:169805 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Ataxia, Hypothermia, Cardiac conduction abnormality, Dila... |
ORPHA:255210 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing... |
OMIM:301050 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Iron deficiency anemia, Colitis, Vomiting, Neutropenia, Hypothyroidism, Hyper... |
ORPHA:37042 |
| Macrophage Activation Syndrome |
|
Fever, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly,... |
ORPHA:158061 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the ant... |
ORPHA:54595 |
| Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79443 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Dysmetria, Weight loss, Gait ataxia, Depression, Bradykine... |
ORPHA:157941 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... |
OMIM:618504 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Chronic neutropenia, Villous atrop... |
OMIM:614700 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Thrombocytosis, Hypoglycemia, Anorexia, Ataxia, Leukocytosis, Diarrhea, Weig... |
ORPHA:134 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Lethargy, Episodic ataxia, Small for gestational age |
OMIM:312170 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Caudate atrophy, Broad-based gait, Urinary incontinence, Chorea, Progres... |
ORPHA:157946 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Abdominal pain, Malabsorption, Leukocyto... |
ORPHA:2070 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Proteinuria, Inability to walk, Recurrent bronchopulmonary infe... |
OMIM:617303 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... |
OMIM:187900 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms |
OMIM:619317 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Pulmonary arterial hyp... |
OMIM:619064 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Susac Syndrome |
|
Nausea and vomiting, Gait ataxia, Apathy, Abnormal emotion, Lethargy |
ORPHA:838 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, EEG abnormality, Onychot... |
OMIM:182290 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... |
ORPHA:347 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Cholera |
|
Fever, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Irritability, Hypovolem... |
ORPHA:173 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Ataxia, Small for gestational age, Dysphagia, Choreoathetosis, Gas... |
OMIM:615471 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Low-set ears |
OMIM:616901 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Hypoglycemia, Hypothermia, Mal... |
ORPHA:565 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... |
ORPHA:774 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Hearing impairment, Bruxism |
OMIM:616351 |
| Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... |
ORPHA:97282 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Adrena... |
ORPHA:427 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased intraabdominal fat, Hepatic steatosis, Hepatomegaly, Decreased adiponectin level, Insul... |
ORPHA:280365 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Throm... |
OMIM:617052 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Gait disturbance, Loss of ambulation, Lethargy, Failure to thrive, Anemia |
OMIM:615838 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Lethargy, Hypertrophic ca... |
ORPHA:254913 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Feeding difficulties, Constipation, Gastroesophageal reflux, Neutropenia |
OMIM:620012 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Tracheoesophageal fi... |
OMIM:277380 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Feeding difficulties, Reduced number of intrah... |
ORPHA:79284 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Hypoxemia, ... |
OMIM:308230 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
| Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Chronic constipation, Truncal ob... |
ORPHA:404448 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract... |
OMIM:209920 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Feeding difficulties in infancy, Nasogastric... |
ORPHA:251028 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Central Neurocytoma |
|
Nausea and vomiting, Lethargy, Ataxia, Depression |
ORPHA:73256 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
| Christianson Syndrome |
|
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrotia, Abnormal repetitive man... |
ORPHA:85278 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Small for gestational age, Poor appetite, Aggressive behavior, Inability to walk, Gastroi... |
OMIM:617799 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Optic atrophy, Ce... |
OMIM:616878 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Feeding difficulties in infancy, Choreoathetosis, Multiple lipomas, Gait disturbance, Let... |
ORPHA:765 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Polyphagia, Pineal cyst, Gastroesophageal ... |
OMIM:615873 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... |
ORPHA:98784 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:220386 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility, Adrenal hypoplasia |
ORPHA:230839 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia... |
OMIM:214500 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Letha... |
OMIM:251100 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Ohdo Syndrome |
|
Stenosis of the external auditory canal, Microtia, Proteinuria, Hearing impairment |
OMIM:249620 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Pulmonary fibrosis, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-... |
ORPHA:457240 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Vomiting, Lethargy, Hypertrophic cardiomyopathy |
OMIM:614299 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
| Galloway-Mowat Syndrome |
|
Proteinuria, Nephrotic syndrome, EEG abnormality, Hypoplasia of the ear cartilage, Nephropathy, M... |
ORPHA:2065 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Feeding difficulties, Vomiting, Lethargy, ... |
ORPHA:2609 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Transient ischem... |
ORPHA:1830 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain,... |
ORPHA:727 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal dental enamel morphology, Anorexia, Abdo... |
ORPHA:79430 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Microtia, Multiple bladder diverticula, Recurrent otitis media, Abnormality of the o... |
ORPHA:2728 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Recurrent respiratory infections, EEG with burst suppression, Optic atrophy, Hypsarrhythmia, Mode... |
OMIM:614231 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecc... |
ORPHA:99827 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Hypoglycemic seizures, Inflammation of the large intestin... |
ORPHA:79259 |
| Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Optic atrophy, Stage 5 chro... |
OMIM:619487 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Sensorineural hea... |
ORPHA:1018 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Lactose intolerance, Abnormal proportion of CD8-positive T c... |
ORPHA:443811 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Feeding difficu... |
OMIM:216550 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Dysphagia, Loss of ambulation, Bilateral facial p... |
ORPHA:254361 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking |
ORPHA:280763 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Abdominal... |
OMIM:229600 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Limitation of joint mobility, Bruxism |
ORPHA:289522 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in presence... |
OMIM:615952 |
| Agel Amyloidosis |
|
Proteinuria, Facial palsy, Ataxia, Respiratory tract infection, Stage 5 chronic kidney disease, O... |
ORPHA:85448 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Limited wrist extension, Keratoglobus, Distal arthrogryposis, Astigmatism, Congenita... |
OMIM:108145 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Tip-toe gait, Falls, Difficulty walking, Myoglobinuria |
ORPHA:98895 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Akinesia, Congenital sensorineural hearing impairment, Sensorineural hearing... |
OMIM:619147 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Fever, Aortic regurgitation, Nausea and vomiting, Ataxia, Pericardit... |
ORPHA:117 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
| Cirrhosis, Familial |
|
Fever, Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrh... |
OMIM:215600 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal tract, Pericard... |
ORPHA:91139 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, Subcutaneous lipoma, Cachexia,... |
ORPHA:79076 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Fee... |
ORPHA:98794 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Ataxia, Optic atrophy, Gai... |
ORPHA:90321 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... |
OMIM:619260 |
| Menkes Disease |
|
Intracranial hemorrhage, Hypothermia |
OMIM:309400 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Neutropenia, Lymphopenia, Recurrent f... |
OMIM:614868 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Leigh Syndrome |
|
Failure to thrive, Multiple joint contractures, Hypoglycemia, Ataxia, Congestive heart failure, G... |
ORPHA:506 |
| Histiocytoid Cardiomyopathy |
|
Fever, Hepatomegaly, Wolff-Parkinson-White syndrome, Cyanosis, Hypoglycemia, Atrial flutter, Tach... |
ORPHA:137675 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... |
OMIM:613989 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... |
OMIM:617802 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| 7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Hypoplasia of the cochlea, Enuresis nocturna, Hy... |
ORPHA:251061 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Impulsivity |
ORPHA:35706 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Thrombocytopenia, Weight loss, Neutropenia,... |
ORPHA:47612 |
| Legionnaires Disease |
|
Renal insufficiency, Ataxia, Proteinuria, Anorexia, Abnormal pleura morphology, Recurrent pharyng... |
ORPHA:549 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Bradycardia, Hypothermia |
OMIM:608800 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Paresthesia, Abnormal autonomic nervous... |
OMIM:301500 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Depression, Hematochezia, Cholestati... |
ORPHA:79095 |
| Scrub Typhus |
|
Fever, Abnormal bleeding, Nausea and vomiting, Abdominal pain, Splenomegaly, Myocarditis, Hypoten... |
ORPHA:83317 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... |
ORPHA:167 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... |
OMIM:610883 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Fever, Bundle branch block, Pericarditis, Angina pectoris, Telangiec... |
ORPHA:93672 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Prolonged bleeding time, Nausea and vomiting, Abnormal neutrophil count, Spl... |
ORPHA:3226 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Ataxia, Optic ... |
OMIM:251300 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Gait disturbance |
ORPHA:2774 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Protein av... |
OMIM:311250 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:1727 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Lipodystrophy, A... |
OMIM:613327 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p... |
ORPHA:183 |
| 1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Intestinal obstruction, Nausea and vomiting, Recurrent intrap... |
ORPHA:900 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
| Dihydropyrimidinase Deficiency |
|
Feeding difficulties in infancy, Lethargy |
OMIM:222748 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Fever, Abnormal bleeding, Neutrophilia, Tachycardia, Epistaxis, Ab... |
ORPHA:91547 |
| Aspergillosis |
|
Fever, Eosinophilia, Hepatitis, Intracranial hemorrhage, Neutropenia, Abnormal esophagus morphology |
ORPHA:1163 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Nausea, Reactive hypoglycemia, Abdominal pain, Abdominal distention, Jaundice, Diar... |
ORPHA:469 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Protein avoidance, Irritability, Vomiting, Cirrhosis, Lethargy, Failure to ... |
OMIM:215700 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp... |
ORPHA:368 |
| Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver |
ORPHA:205 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... |
OMIM:618849 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Chol... |
OMIM:620233 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Hypospadias, Abnormality of the kidne... |
OMIM:123450 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess... |
OMIM:612541 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Feeding difficulties, Neutropenia, Joint contracture, Failure to thrive, Hypothyroi... |
OMIM:618005 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,... |
ORPHA:3306 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal lun... |
ORPHA:439232 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Recurrent respiratory infections, Pain insensitivity, Hypospadias, Ataxia, Repetitive compulsive ... |
OMIM:300260 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Cer... |
OMIM:617729 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Bipolar affective disorder, Decreased response to growth hormone stimulation tes... |
ORPHA:488632 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Bradycardia, ... |
OMIM:617397 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy, Malabsorption |
OMIM:238750 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Microcytic anemia, Difficulty walking, Neutropenia, Hypothyroidism |
OMIM:251900 |
| Ogden Syndrome |
|
Abnormal head movements, Inguinal hernia, Shuffling gait, Cardiogenic shock, Arrhythmia, Lethargy |
ORPHA:276432 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive ma... |
OMIM:618004 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Ataxia, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Renal co... |
OMIM:243910 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Feeding difficult... |
OMIM:617865 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Congestive ... |
ORPHA:363705 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro... |
ORPHA:88 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Cyanosis, Left-to-right shunt, Tachycardia, Abnormal atrioventricular... |
ORPHA:1329 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Compulsive behaviors, At... |
ORPHA:488618 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Gastroparesis, Hiatus hernia, Hypothermia, Jaundice, H... |
ORPHA:198 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Fever, Ataxia, Splenomegaly, Thrombocy... |
ORPHA:158048 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Tremor, Focal dystonia, Jerky head movements, Dysphagia |
ORPHA:240103 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Proteinuria, Non-acidotic proximal tubulopathy, Sensorineural hearing i... |
OMIM:222448 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... |
ORPHA:731 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Myoglobinuria, Difficulty walking, Broad-based gait |
ORPHA:119 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Fever, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neut... |
ORPHA:293173 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Sensorineural hearing impairment, Recurrent pneumonia, Low-set ears, ... |
OMIM:617751 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Agitation, Abnormal autonomic nervous system physiology, Dystonia, Recurrent hand flapping |
OMIM:617903 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Nausea and vomiting, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Gastroesophageal ... |
OMIM:620242 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Feeding diff... |
OMIM:207900 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ... |
ORPHA:810 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Compulsive behaviors, Cellulitis |
OMIM:266265 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Hearing impairment |
ORPHA:86818 |
| Amoebiasis Due To Free-Living Amoebae |
|
Fever, Restlessness, Ataxia, Nausea, Irritability, Granuloma, Abnormality of the adrenal glands, ... |
ORPHA:68 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hepatom... |
ORPHA:797 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest... |
OMIM:260400 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Exercise-induced myoglobinuria |
OMIM:300653 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Pyloric stenosis, Feeding difficulties, Neutropenia, Meckel diver... |
OMIM:616395 |
| Fusariosis |
|
Fever, Brain abscess, Fasciitis, Lung abscess, Abnormality of the spleen, Peritonitis, Neutropeni... |
ORPHA:228119 |
| Cryptogenic Organizing Pneumonia |
|
Fever, Neutrophilia, Cyanosis, Anorexia, Leukocytosis, Weight loss, Hypoxemia |
ORPHA:1302 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Melas |
|
Proteinuria, Ataxia, Sensorineural hearing impairment, Optic atrophy, Focal segmental glomerulosc... |
ORPHA:550 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirr... |
OMIM:192315 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Decre... |
OMIM:607594 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Proteinuria, Hematuria, Abnormal autonomic nervous system physiology, Re... |
ORPHA:71273 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Horseshoe kidney, Head-bangi... |
OMIM:619103 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Prolonged prothrombin time, ... |
OMIM:617941 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Fever, Liver abscess, Neutrophilia, Abdominal pain,... |
ORPHA:54251 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Ataxia, Aggressive beh... |
OMIM:300912 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst... |
ORPHA:93958 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal repetitive manne... |
OMIM:617807 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abnormal bleeding, Decreased resp... |
ORPHA:470 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Pulmonary emb... |
ORPHA:394 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Recur... |
ORPHA:500159 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Eye poking |
OMIM:608553 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Myocardial infarction, Pulmon... |
ORPHA:447 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
OMIM:619220 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Abnormal dental enamel morphology, Small for gestational age, Diarrhea, Function... |
ORPHA:221008 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... |
OMIM:614520 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Feeding difficulties, Vomiting, Lethargy, Failure to thrive |
OMIM:210210 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Steatorrhea, Hepat... |
OMIM:602579 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Dysphagia, Feeding difficulties, Bradycardia, Neutropenia, Failure to thrive, Poor suck... |
OMIM:617248 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
| Holocarboxylase Synthetase Deficiency |
|
Feeding difficulties in infancy, Irritability, Vomiting, Lethargy, Thrombocytopenia |
OMIM:253270 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Cyanosis, Hypoglycemia, Ataxia, Feeding difficulties in infancy,... |
OMIM:252010 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Broad-based gait, Ataxia, Atelectasis, Choreoathetosis, Elevate... |
OMIM:610978 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Abnormal renal tubule morphology, Proteinuria, Anorexia, Ver... |
ORPHA:324 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... |
OMIM:618430 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... |
ORPHA:98849 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Abdominal distention, Hyperinsulinemia, Cholestasis, Sev... |
OMIM:246200 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Inability... |
ORPHA:438213 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive... |
ORPHA:401777 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Ataxia, Eosinophilia, Abscess, Esophageal stricture, Vasculi... |
OMIM:615816 |
| Medulloblastoma |
|
Elevated hepatic transaminase, Nausea and vomiting, Ataxia, Cerebellar hemorrhage, Adenomatous co... |
ORPHA:616 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Aspiration p... |
ORPHA:79264 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Diffuse alveolar hemorrhage, Proteinuria |
OMIM:614034 |
| 22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal re... |
ORPHA:567 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Hematuria... |
OMIM:161200 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Flexion contracture, Unsteady gait, Constipation, Gait distur... |
ORPHA:35069 |
| Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency, Optic atrophy, Hearing impairment |
OMIM:610965 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Abnormal incisura morphology, Ectopic kidney, Sensorineural ... |
OMIM:122470 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Low-set ears, Recurrent otitis m... |
OMIM:619525 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... |
OMIM:617156 |
| Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting, Lethargy |
OMIM:253260 |
| Sandifer Syndrome |
|
Abnormal head movements, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflu... |
ORPHA:71272 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypoglycemia, Feeding difficulties, Lethargy, Failure to thrive, Poor ... |
OMIM:607143 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti... |
OMIM:614748 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Chordee, Low-set ears, Microp... |
OMIM:300519 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Esopha... |
OMIM:227646 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc... |
ORPHA:2796 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... |
OMIM:300986 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Emotional lability,... |
OMIM:620330 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Sma... |
OMIM:614866 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Proteinuria, Ataxia, Renal cyst, Dysmetria, Nephrotic syndrome, Proximal tubu... |
OMIM:212065 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Optic atrophy, Perineal hypospadias,... |
ORPHA:66634 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Ataxia |
ORPHA:713 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal... |
OMIM:618914 |
| Distal Deletion 10Q |
|
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Functional abnormality ... |
ORPHA:96148 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Feeding difficulties, Lethargy, Hypertrophic cardiomyopathy |
OMIM:604377 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Vesicouret... |
OMIM:613174 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Micropenis, Macrotia, Abn... |
OMIM:619435 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Feeding di... |
ORPHA:163681 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Hypothyroidism, Decreased response to growth hormone stimulation test, Neu... |
OMIM:609053 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Ataxia, A... |
ORPHA:50918 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Spider hemangio... |
OMIM:232240 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Abnormal pinna morphology, Hypospadias, Aggressive behavior, Ab... |
OMIM:610253 |
| Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Irregular septal thickening on pulmonary HRCT, Proteinuria, Pulmonary fibrosis |
ORPHA:90060 |
| Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Impaired pain sensation, Abnormality of the ureter, Abnormal localizati... |
ORPHA:819 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Loss of ambulation, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Chronic ... |
OMIM:617099 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Splenomegaly, Hepatospleno... |
OMIM:608233 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, Sinus tachycardia, Malignant hyperthermia, Abno... |
ORPHA:466650 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Aganglionic megaco... |
OMIM:250250 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased body weight, Hepatic fibrosis, Vomiting, Fasting hypoglycemia, Hepatic steatosis, Nause... |
ORPHA:264580 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
| Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdominal pain, Leuko... |
ORPHA:340 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Hepatitis, Fee... |
ORPHA:415 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressi... |
ORPHA:261494 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Inability to w... |
ORPHA:505248 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Bruxism, Abnormal repetit... |
OMIM:613454 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Abnormality of the kidney, Aggressive behavior, Impaired pain sensation, Tongue... |
OMIM:606232 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Reticulocytopenia, Anemi... |
OMIM:600901 |
| Vici Syndrome |
|
Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Dysphagia, Leukopenia, T lym... |
OMIM:242840 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, S... |
OMIM:300486 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Fever, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Ga... |
ORPHA:761 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Fever, Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia,... |
ORPHA:319251 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Tremor, Large earlobe, Low-set ears, Dysphagia, Conductive hear... |
OMIM:619312 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... |
OMIM:219800 |
| Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Corneal scarring, Dysphagia, Feeding difficulties, Ne... |
OMIM:618460 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Reticulocytopenia, Anemi... |
OMIM:227650 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Decreased corneal thickness |
ORPHA:293967 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:618205 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Vo... |
ORPHA:1059 |
| Secondary Intestinal Lymphangiectasia |
|
Fever, Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Right ventricular failure,... |
ORPHA:90363 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ... |
OMIM:617061 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Flexio... |
OMIM:227645 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Hypoesthesia, Nephrolithiasi... |
OMIM:277900 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Congenital Disorder Of Glycosylation, Type It |
|
Malignant hyperthermia, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:614921 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Decreased liver function, Lethargy, Hepatic s... |
OMIM:614922 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Fail... |
ORPHA:247598 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Emphysema,... |
ORPHA:538 |
| Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Emphysema |
ORPHA:60 |
| Trichinellosis |
|
Retinal hemorrhage, Irritability, Apathy, Dysphagia, Lethargy, Nausea |
ORPHA:863 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bilateral renal hy... |
OMIM:619695 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Chronic ... |
OMIM:615895 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Pneumonia, Renal tubular... |
ORPHA:95455 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Hearing impairment |
OMIM:619377 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice, Episodic vomiting, Hypoglycemia |
OMIM:615751 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Choreoathetosis, Attention defici... |
ORPHA:261197 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, Self-injurio... |
ORPHA:457351 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Anorexia, Myocardial... |
ORPHA:95409 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... |
ORPHA:64280 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic a... |
OMIM:615846 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Autoimmune thrombocytopenia, Abnormality of the endocrine sys... |
ORPHA:391487 |
| Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Vertigo, Tubulointe... |
ORPHA:358 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypoglycemia, Small for gestational age, Chronic pancreatitis, Adrenal... |
OMIM:307030 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, Compulsive behaviors, Chroni... |
ORPHA:534 |
| Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo... |
ORPHA:909 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Disinhibition, Adrenal insu... |
ORPHA:43 |
| Kufor-Rakeb Syndrome |
|
Fever, Bowel incontinence, Bradykinesia, Gait disturbance, Apathy, Difficulty walking, Dysphagia,... |
ORPHA:306674 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... |
OMIM:207800 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... |
OMIM:620185 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Recurrent respiratory infections, Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ea... |
OMIM:616579 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Failure to thrive, Lethargy, Feeding difficulties |
OMIM:605711 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ab... |
ORPHA:33001 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... |
ORPHA:97214 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Acroparesthesia, Proteinuria, Abnormality of the kidney, Impaired temperatur... |
ORPHA:2614 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditor... |
OMIM:216400 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lung lobation, Hypercalciuria, Renal cyst, Multifocal epileptiform d... |
ORPHA:369837 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity dis... |
ORPHA:10 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia |
OMIM:612562 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
| Trichothiodystrophy |
|
Multiple joint contractures, Absence of subcutaneous fat, Increased mean corpuscular hemoglobin c... |
ORPHA:33364 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Recurrent pneumonia, Optic ... |
ORPHA:496641 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Feeding difficulties, Cardiomyopathy, Lethargy, Failure to thrive |
OMIM:201470 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria, Abnormal pulmonary interstitial morphology, Anorexia |
ORPHA:77259 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Aggressive behavior, Feeding difficulties ... |
OMIM:607872 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis, Vertigo, Sens... |
ORPHA:728 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Lethargy, Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Leukopenia, P... |
ORPHA:2330 |
| Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Ataxia, Renal hypoplasia, Nephrotic syndrome, Gait... |
ORPHA:191 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Recurrent respiratory infections, Abnormal auditory evoked potentials, Hearin... |
OMIM:193700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
| Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... |
ORPHA:3261 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria |
OMIM:607155 |
| Yellow Fever |
|
Vomiting, Internal hemorrhage, Nausea, Abnormal bleeding, Neutrophilia, Elevated circulating aspa... |
ORPHA:99829 |
| Joubert Syndrome 6 |
|
Ataxia, Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Paresthesia, Dysphagia, Bronc... |
ORPHA:2357 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Hearing impairment |
ORPHA:896 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Failure to t... |
ORPHA:209905 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Feeding difficulties, Neutropenia |
OMIM:617050 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Recurrent respiratory infections, Hemoglobinuria |
ORPHA:90035 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Decreased circulating cortisol level, Ataxia, Inability to walk, Primary adrenal i... |
ORPHA:139396 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Neutropenia, Delayed puberty |
ORPHA:193 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Neutropenia, Lymphopenia, Hyp... |
OMIM:607944 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
| Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Encephalitis Lethargica |
|
Fever, Lethargy, Bradycardia, Bowel incontinence |
ORPHA:83600 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Telangiectasia, Leukopenia, Neutropenia |
OMIM:604173 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Sensorineural hearing impairment, Head-banging, Renal tubular a... |
OMIM:619575 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Mild proteinuria |
OMIM:619685 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, EEG with focal spike waves, Posteriorly rotated ears, Ataxia,... |
OMIM:619229 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Urinary incontinence, Hair-pulling, Dysphagia, H... |
ORPHA:447997 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve... |
OMIM:616364 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Abnormal dental enamel morphology, Small for gestational age, Telangiectasia of ... |
ORPHA:2909 |
| Herpes Simplex Virus Encephalitis |
|
Fever, Nausea and vomiting, Neutrophilia, Leukocytosis, Addictive alcohol use |
ORPHA:1930 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anorexia, Abnormality ... |
ORPHA:48435 |
| Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... |
ORPHA:1227 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Abnormal lung morphology, Hematuria, ... |
ORPHA:2035 |
| Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Chorea, Chronic kidney disease, Hematuria |
ORPHA:1855 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Feeding difficulties |
OMIM:618232 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, B lymphocytopenia, Rectal abscess, Neutropenia, Failure to thrive |
OMIM:601495 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Facial palsy |
ORPHA:206549 |
| Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal circulating leptin concentra... |
ORPHA:79474 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Cellulitis, Abnormal neutrophil morphology, Limb ataxia, Neu... |
ORPHA:51636 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Ileus, Athetosis, Constipation, Self-muti... |
ORPHA:52503 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Aggressive behavior, Chronic constipation, Compulsive beha... |
ORPHA:163956 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospadias |
OMIM:300219 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrhage, Pneumothorax, Hematuria, Tubulointe... |
ORPHA:90068 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Choreoacanthocytosis |
|
Compulsive behaviors, Loss of ambulation, Hepatomegaly, Self-mutilation of tongue and lips due to... |
ORPHA:2388 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Feeding difficulties in infancy, Gait disturbance, Lethargy, Failure to thrive |
ORPHA:395 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Compulsive behaviors, Attention deficit hyperactivity disorder, Con... |
ORPHA:1001 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... |
ORPHA:760 |
| Pure Mitochondrial Myopathy |
|
Loss of ambulation, Recurrent myoglobinuria, Waddling gait |
ORPHA:254854 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Chronic kidney disease, Renal... |
OMIM:208500 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... |
OMIM:300352 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur... |
ORPHA:411629 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... |
OMIM:212066 |
| Chronic Myeloid Leukemia |
|
Fever, Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloprolifera... |
ORPHA:521 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Neutrophilia, Pericarditis, Abdominal pain, S... |
ORPHA:829 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Abnormal dental enamel morphology, Small for gestational age, Diarrhea, Function... |
ORPHA:221016 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Hyperactivity, Ectopic posterior pituitary, Inguinal hernia, Small f... |
ORPHA:508488 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... |
ORPHA:273 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper... |
ORPHA:435638 |
| Plague |
|
Fever, Hepatomegaly, Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splen... |
ORPHA:707 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Megalocornea-Intellectual Disability Syndrome |
|
EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:2479 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Chronic diarrhea, T lymphocytopenia, B lymphocyt... |
OMIM:300755 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease |
OMIM:613148 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... |
OMIM:112200 |
| Aymé-Gripp Syndrome |
|
Posteriorly rotated ears, Proteinuria, Sensorineural hearing impairment, EEG abnormality, Microti... |
ORPHA:1272 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasi... |
OMIM:613179 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori... |
OMIM:277175 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Aggres... |
ORPHA:468678 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Diarrhea, Neutropenia |
OMIM:617827 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf... |
OMIM:617330 |
| Hellp Syndrome |
|
Proteinuria, Hemoglobinuria, Pleural effusion, Acute kidney injury, Pulmonary edema |
ORPHA:244242 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
| Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural e... |
OMIM:612387 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi... |
ORPHA:424019 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Car... |
ORPHA:175 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Feeding difficulties, Bradykinesia, Dysdiadoc... |
OMIM:610217 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Stomach cancer, Autoimmune thrombocytope... |
ORPHA:331235 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... |
OMIM:616113 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Chronic otitis media, Hyd... |
ORPHA:2750 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Micropenis, Proteinuria |
OMIM:619471 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increas... |
ORPHA:90790 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... |
OMIM:233450 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Recu... |
OMIM:244400 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Proteinuria, Ataxia, Abnormal pulmonary interstitial morphology... |
ORPHA:77261 |
| Holoprosencephaly |
|
Hypoplasia of penis, Proteinuria, External ear malformation, Chorea, Optic atrophy, Aplasia/Hypop... |
ORPHA:2162 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Temperature instability, Tricuspid regurgitation |
OMIM:620306 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Dystonia, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonom... |
ORPHA:300570 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Di... |
ORPHA:424 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Recurrent bronchitis |
OMIM:604571 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Ataxia, Abdominal pain, Pituitary adenoma, Diarrhea, Adenomatous colonic po... |
ORPHA:99818 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Gaucher Disease |
|
Ataxia, Proteinuria, Abnormal pulmonary interstitial morphology, Hematuria, Pulmonary fibrosis, D... |
ORPHA:355 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Anorexia, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial nec... |
ORPHA:91500 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Inability to walk, Atelectasis, Oligosacchariduria, Difficulty walki... |
ORPHA:365 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis, EEG abn... |
ORPHA:522077 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Difficulty walking |
OMIM:255125 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Flexion contracture, Right bundle branch block, Hypertension... |
OMIM:614008 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Hypospadias, Renal agenesis, Sensorineural hearing impairment, Cerebral... |
OMIM:301040 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Ataxia, Scarring, Small for gestational age, Microcytic anemia, Leuko... |
ORPHA:99843 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Low-set ears, Abnormal repe... |
ORPHA:457279 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre... |
ORPHA:2363 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Monosomy 13Q34 |
|
Epistaxis, Insulin resistance, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenos... |
ORPHA:96168 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Feeding difficulties in infancy, Phonic tics, De... |
OMIM:234200 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Dysphagia, Laryngeal dystonia, Hea... |
ORPHA:845 |
| Pneumocystosis |
|
Hypoxemia, Fever, Weight loss, Abnormal neutrophil count |
ORPHA:723 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Cerebral atrophy, Polycystic kidney dysplasia, Low-set ears, Hearing impairment |
OMIM:311200 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ear, Hydronephr... |
ORPHA:464311 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-... |
ORPHA:99819 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Micropenis, Low-set ears, Difficulty walking, Vesicoureteral reflux, Overfolded helix, Pelvic kid... |
OMIM:618653 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Hypospadias, Optic nerv... |
ORPHA:468631 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Familial Mediterranean Fever |
|
Proteinuria, Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Pleuritis |
ORPHA:342 |
| Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Posteriorly rotated ears, Atelectasis, Renal hypoplasia, Pulmonary hyp... |
OMIM:269860 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Splenomegaly, Peritonitis, Leukocytosis... |
OMIM:249100 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
ORPHA:476126 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Costello Syndrome |
|
Keratoconus, Joint hyperflexibility |
ORPHA:3071 |
| Gapo Syndrome |
|
Keratoconus, Joint hyperflexibility, Decreased skull ossification |
ORPHA:2067 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Protruding ear, Nephrocalcinosis, Dy... |
ORPHA:904 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ... |
ORPHA:464306 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Atelectasis, Oliguria, Dysphagia, Microscopic hematuria |
ORPHA:319213 |
| Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria |
ORPHA:536 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Arterial rupture, Bruisin... |
OMIM:225400 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting,... |
OMIM:619991 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc... |
ORPHA:805 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... |
ORPHA:740 |
| Japanese Encephalitis |
|
Fever, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Elbow flexion contracture, Choreoathetos... |
ORPHA:79139 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Abnormal repetitive mannerisms, Unsteady gait, Proteinuria |
OMIM:616682 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, Abnormal repetitive manneri... |
OMIM:619475 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Hypospadias, Nephroblastoma, Recurrent pneumoni... |
ORPHA:798 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul... |
OMIM:309000 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Non-periodic recurrent fever, Dilated cardiom... |
ORPHA:3243 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
| Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Di... |
ORPHA:2044 |
| Developmental And Epileptic Encephalopathy 2 |
|
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:300672 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hyperactivity, Hypospadias,... |
ORPHA:353281 |
| Psoriasis 14, Pustular |
|
Fever, Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Abdominal distention, Insulin resistance, Rect... |
ORPHA:508 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Inability to walk, Atelectasis, Pontocerebellar atrophy, Dysphagia, Recurrent lower... |
ORPHA:258 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia, Congenital hypothyroidism |
OMIM:271510 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Delayed early-childhood social milestone development, Gastrointestinal inf... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Myocardial infarction, Delayed early-childhood social milestone development, Gastrointestinal inf... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Delayed early-childhood social milestone development, Gastrointestinal inf... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Delayed early-childhood social milestone development, Gastrointestinal inf... |
ORPHA:881 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Arterial Tortuosity Syndrome |
|
Joint laxity, Keratoconus, Flexion contracture, Astigmatism |
OMIM:208050 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Mixed hearing impairment, Posteriorly rotated ears, Repeated pneumothoraces, Atel... |
ORPHA:536467 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, EEG with tem... |
ORPHA:217253 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Chronic otitis media, Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Pneumonia, Respiratory tract infection, Oliguria, Pleuritis, Pleural empyema, Acute kidne... |
ORPHA:544482 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Diarrhea, Hepatosplen... |
OMIM:260920 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Stomatitis |
OMIM:612852 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... |
OMIM:619512 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... |
OMIM:615485 |
| Biotinidase Deficiency |
|
Lethargy, Ataxia |
ORPHA:79241 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Joint hyperflexibility, Keratoglobus, Craniosynostosis |
ORPHA:3342 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder diverticula, Emphysema, ... |
OMIM:613177 |
| Gapo Syndrome |
|
Keratoconus, Shallow anterior chamber, Megalocornea, Joint hypermobility |
OMIM:230740 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thr... |
OMIM:612199 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive behavior, Decreased nerve condu... |
ORPHA:580 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Camptodac... |
ORPHA:500095 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Nodular pattern on pulmonary HRCT, Bra... |
ORPHA:333 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Chronic diarrhea, Eosinophilia |
OMIM:158310 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Diarrhea, Vacuolated lymphocytes, Mitral regurgitation, Hernia, Neutropenia |
OMIM:208400 |
| Posterior Urethral Valve |
|
Hypertension, Lethargy |
ORPHA:93110 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Aggressive behavior... |
OMIM:614756 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hydranencephaly |
|
Lethargy, Antenatal intracerebral hemorrhage, Atrophic pituitary gland |
ORPHA:2177 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Anorexia, Bronchiectasis, Hypercalciuria, Abnormal pulmonary interstitial morph... |
OMIM:181000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Cataract |
OMIM:253800 |
| Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Transient neutropenia, Large for gestational age |
OMIM:617107 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Kawasaki Disease |
|
Recurrent pharyngitis, Proteinuria, Abnormal pulmonary interstitial morphology, Sterile pyuria |
ORPHA:2331 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... |
ORPHA:261584 |
| Chand Syndrome |
|
Atelectasis, Hydroureter, Ataxia |
ORPHA:1401 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Atelectasis, Recurrent pneumonia... |
OMIM:188400 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Impair... |
OMIM:619005 |
| Van Esch-O'Driscoll Syndrome |
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Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
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Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Otitis media, Compulsive behaviors, Vesicoureteral reflux, Conductive hearing impairment, Abnorma... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Otitis media, Compulsive behaviors, Vesicoureteral reflux, Conductive hearing impairment, Abnorma... |
ORPHA:353277 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Ureteropelvic junction obstruction, Posteriorly rotated ears, Urinary inconti... |
OMIM:619522 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
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Elevated circulating thyroid-stimulating hormone concentration, Secretory diarrhea, Feeding diffi... |
OMIM:618183 |
| Developmental And Epileptic Encephalopathy 100 |
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Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... |
ORPHA:513456 |
| Glycogen Storage Disease Xii |
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Hemoglobinuria |
OMIM:611881 |
| Prader-Willi Syndrome Due To Translocation |
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Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
| 20Q13.33 Microdeletion Syndrome |
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Hematochezia, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,... |
OMIM:309590 |
| Norrie Disease |
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Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
| Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
| Pmm2-Cdg |
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Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
| Woodhouse-Sakati Syndrome |
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Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Sponastrime Dysplasia |
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Precocious puberty, Small for gestational age, Hypothyroidism, Neutropenia |
ORPHA:93357 |
| Arboleda-Tham Syndrome |
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Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph... |
OMIM:616268 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... |
ORPHA:508498 |
| Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Abnormal repetitive mannerisms |
ORPHA:508533 |
| Glycine Encephalopathy |
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Lethargy, Poor suck |
ORPHA:407 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Brain atrophy |
OMIM:618278 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Conductive hearing impairment, Web... |
ORPHA:2152 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... |
OMIM:619325 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261537 |
| Adenocarcinoma Of The Anal Canal |
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Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t... |
ORPHA:424016 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... |
OMIM:612474 |
| Ogden Syndrome |
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Torticollis, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Macrotia, Abnormal ... |
OMIM:300855 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Osteoarthritis, Limitation of joint mobility, Osteolysis, Joint hyperflexibility, Ke... |
ORPHA:285 |
| Neurofibroma |
|
Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnormal biliary tract morphology |
ORPHA:252183 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... |
OMIM:194190 |
| Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Hypermobility ... |
OMIM:130050 |
| Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... |
OMIM:259050 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Osteoarthritis, Abnormal pupil morphology, Osteolysis, Joint hyperflexibility |
ORPHA:286 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Sensorineural hearing impairme... |
ORPHA:261552 |
