| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Syndactyly, Splenomegaly, Jaundice, Pallor |
OMIM:615631 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor |
OMIM:613561 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis |
OMIM:266200 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Talipes equinovarus, Pallor, Congenital finger flexion contractures, Adducted thumb |
ORPHA:536516 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H... |
ORPHA:231226 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
| Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato... |
ORPHA:231214 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Pallor |
ORPHA:98870 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Short 1st metacarpal |
OMIM:609053 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Swelling of proximal interphalangeal joints, Cholangitis, Splenome... |
ORPHA:3260 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Pallor, Abnormal metaphysis morphology |
ORPHA:667 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Degcags Syndrome |
|
Hepatomegaly, Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cholestasis, He... |
OMIM:619488 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
| Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx |
OMIM:600901 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx |
OMIM:227650 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx |
OMIM:227645 |
| Esophageal Atresia |
|
Clinodactyly, Pallor |
ORPHA:1199 |
| Diamond-Blackfan Anemia 1 |
|
Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the radius, Pallor... |
OMIM:105650 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
| Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Partial duplication of thumb phalanx, Pallor, Triphalangeal thumb |
ORPHA:124 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor |
ORPHA:99125 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
