| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease, Abnormality of skin pigmentation |
OMIM:268040 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Placental Insufficiency |
|
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... |
ORPHA:439167 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Albinism, Hypopigmentation of the skin, Short stature |
ORPHA:2786 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly |
ORPHA:75563 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly |
ORPHA:228312 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Splenomegaly, Short stature, Pallor, Growth delay, Jaundice |
OMIM:615631 |
| Abcd Syndrome |
|
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... |
OMIM:600501 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios |
ORPHA:397590 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Cholecystitis, Intrauterine growth ... |
OMIM:266200 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... |
ORPHA:848 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Hearing impairment |
ORPHA:2169 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Pallor, Atrial septal defect, Short stature |
ORPHA:49827 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254534 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Pericarditis, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Optic disc pallor, Poikilocytosis, Elliptocytosi... |
OMIM:616959 |
| Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Hepatomegaly, Jaundice |
OMIM:613839 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, H... |
ORPHA:276575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:276556 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:276580 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
| Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Myelofibrosis |
|
Pallor, Purpura, Splenomegaly |
OMIM:254450 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis |
OMIM:611590 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Th... |
ORPHA:261250 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Caf... |
OMIM:609053 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Evans Syndrome |
|
Pallor, Petechiae, Jaundice |
ORPHA:1959 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... |
ORPHA:3099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Anemia, Leukopenia, Aplastic anemia, Normocytic a... |
ORPHA:811 |
| Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis |
OMIM:604117 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Skin ulcer |
ORPHA:507 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Leukopenia... |
ORPHA:124 |
| Dominant Beta-Thalassemia |
|
Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly,... |
ORPHA:231226 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Pallor, Skin ulcer, Growt... |
ORPHA:822 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice |
OMIM:194380 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Myocarditis, Cardiomyopathy |
ORPHA:3386 |
| Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Hepatosplenomegaly, Purpura, Ecchymosis, Portal hy... |
ORPHA:824 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosp... |
ORPHA:231222 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Stillbirth, Premat... |
OMIM:208150 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Dila... |
ORPHA:231214 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Senior-Loken Syndrome 8 |
|
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:90037 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Delayed puberty |
OMIM:600462 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:98375 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic anemia, Vestibular ... |
ORPHA:3240 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... |
ORPHA:263455 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Jaundice, Splenomegaly |
ORPHA:90033 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Small placenta, Polyhydramnios, Spina bifida, Stillbirth, ... |
OMIM:256520 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:75564 |
| Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Jaundice |
OMIM:246400 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254528 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Hepatomegaly |
OMIM:246450 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Restrictive Dermopathy |
|
Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of cervical insu... |
ORPHA:1662 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Jaundice, Splenomegaly, Prolonged neonatal jaundice |
OMIM:300908 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:348 |
| Fumarase Deficiency |
|
Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Premature birth, Large placenta |
ORPHA:254519 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Mosaic Trisomy 16 |
|
Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth, Large placenta |
ORPHA:1708 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot, Abnormal heart mo... |
OMIM:600901 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly |
ORPHA:331206 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Anemic pallor, Ventricular septal defect, Hyperpigmentation of the skin, Cafe-au-l... |
OMIM:227645 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait spot, Abnormal heart... |
OMIM:227650 |
| Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Pallor, Purpura, Jaundice |
ORPHA:90051 |
| Greenberg Dysplasia |
|
Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... |
OMIM:215140 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
| Erythrokeratodermia Variabilis |
|
Hypermelanotic macule, Irregular hyperpigmentation, Short stature, Erythema, Dry skin |
ORPHA:317 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Pallor, Acute pancreatitis, Elevated hepatic tra... |
ORPHA:20 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Growth delay, Short stature |
OMIM:617675 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormalities of placenta or umbilical cord, Polyhydramnios, Large placenta |
OMIM:222470 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pallor, Pancreatic fibrosis, Er... |
OMIM:557000 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Waldenström Macroglobulinemia |
|
Pallor, Purpura, Hepatomegaly, Splenomegaly |
ORPHA:33226 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:134 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
| Incontinentia Pigmenti |
|
Pallor, Abnormality of skin pigmentation, Erythema, Short stature |
OMIM:308300 |
| Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Short umbilical cord, Neonatal death, Spontaneous chorioamniotic ... |
OMIM:275210 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Splenomegaly, Pallor, Chronic hepatitis, Hepatosplenomegaly, Elevated hepatic trans... |
ORPHA:3260 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Short stature, Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait sp... |
OMIM:227646 |
| Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Short stature, Tricuspid stenosis, Pallor, Ventricular septal defect, Intra... |
OMIM:105650 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anemia, Optic atrophy, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
| Degcags Syndrome |
|
Atrial septal defect, Hepatomegaly, Dysplastic pulmonary valve, Pulmonic stenosis, Pallor, Abnorm... |
OMIM:619488 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia |
ORPHA:160 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Infantile Krabbe Disease |
|
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... |
ORPHA:206436 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Meckel Syndrome, Type 1 |
|
Single umbilical artery, Anencephaly, Oligohydramnios, Occipital encephalocele, Breech presentati... |
OMIM:249000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Pallor, Growth delay |
ORPHA:667 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Pallor, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Myocarditis, Cardiomyopathy, Pancreatic cysts, Pancreatic islet... |
ORPHA:892 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatosplenomegaly, Optic ... |
ORPHA:79330 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Alternating Hemiplegia Of Childhood |
|
Pallor, Cardiomyopathy |
ORPHA:2131 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
| Esophageal Atresia |
|
Ventricular septal defect, Growth delay, Pallor, Tetralogy of Fallot |
ORPHA:1199 |
| Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Premature birth, Large placenta |
ORPHA:116 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Spinal dysraphism, Premature birth, Large placenta |
ORPHA:96334 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... |
ORPHA:909 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis, Myocarditis |
ORPHA:544482 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Pericardial effusion, Delayed puberty |
ORPHA:91347 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Neoplasm of the liver |
ORPHA:653 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment |
OMIM:220290 |
