| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity |
OMIM:618830 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608631 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... |
OMIM:608636 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Reduced social reciprocity, Motor stereotypy |
OMIM:606053 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ... |
OMIM:615558 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability |
OMIM:240800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def... |
OMIM:620211 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... |
ORPHA:35878 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ... |
OMIM:610582 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism |
OMIM:610539 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... |
OMIM:616959 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Agitation, Hypoglycemia, Restlessness, Retinal degeneration, Elevated circulating ... |
OMIM:300438 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Reduced social reciprocity, Aggressive behavior |
ORPHA:329249 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... |
ORPHA:3077 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c |
OMIM:616511 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... |
ORPHA:101039 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal h... |
ORPHA:848 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Abnormal erythrocyte morphology, Depression, Elevated circulating creatine kinase ... |
ORPHA:96180 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:609812 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Irritability, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Mody |
|
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy... |
ORPHA:552 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Retinal dystrophy, Elevated circulating phytanic acid concentration, Hypocholesterol... |
OMIM:266510 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Chylomicron Retention Disease |
|
Retinopathy, Steatorrhea, Acanthocytosis, Hypocholesterolemia |
ORPHA:71 |
| Squalene Synthase Deficiency |
|
Irritability, Optic nerve hypoplasia, Increased circulating farnesol concentration, Elevated circ... |
OMIM:618156 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Hypocholesterolemia, Motor stereotypy, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... |
ORPHA:100924 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... |
ORPHA:232 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... |
ORPHA:231222 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Dominant Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corp... |
ORPHA:231226 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia... |
ORPHA:231214 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hypotriglyceridemia, Hyperbilirubin... |
ORPHA:14 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
| Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Punding, Abnormal social behavior |
ORPHA:64280 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F |
OMIM:617101 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasia, Pancytopen... |
OMIM:617052 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anorexia, Decreased HDL cholesterol concentration, Anemia, Depression... |
ORPHA:330015 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Alg12-Cdg |
|
Retinal detachment, B lymphocytopenia, Hyponatremia, Thrombocytopenia, Recurrent hypoglycemia, Hy... |
ORPHA:79324 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-cone dystrophy |
OMIM:212065 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia |
ORPHA:31150 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Depression, Abnormal hemoglobin, Self-injurious behavior |
ORPHA:847 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Gluc... |
OMIM:219090 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy... |
OMIM:260400 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hyperactivity, Acute lymphoblastic leukemia, Hypocholesterolemia, Rod-cone dystr... |
OMIM:223370 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Optic disc pallor |
OMIM:244450 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... |
ORPHA:90363 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Motor stereotypy, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Elevated circulating 7-dehydrocholesterol concentration, Splenomegaly, Hypoalbumin... |
OMIM:270400 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |
| Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Developmental And Epileptic Encephalopathy 96 |
|
|
OMIM:619340 |
