| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Albinism, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor, Syndactyly |
OMIM:615631 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Pallor, Hypopla... |
OMIM:609053 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly |
OMIM:613464 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor, Cafe-au-lait spot |
OMIM:615234 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Talipes equinovarus, Adducted thumb, Congenital finger flexion contractures, Tapered finger |
ORPHA:536516 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Pallor, Growth delay |
OMIM:600462 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Primary Myelofibrosis |
|
Purpura, Petechiae, Pallor, Ecchymosis |
ORPHA:824 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Dominant Beta-Thalassemia |
|
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Hyperpigmentation of the skin, Delayed... |
ORPHA:231226 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor, Cafe-au-lait spot |
ORPHA:300298 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... |
ORPHA:552 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Anemic pallor, Hyperpigmentation of t... |
OMIM:227645 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Beta-Thalassemia Major |
|
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Hyperpigmentation of the skin, Delayed... |
ORPHA:231214 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Pallor |
OMIM:301310 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Anemic pallor, Hyperpigmentation of the skin, Absent radius, Short sta... |
OMIM:600901 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pallor |
OMIM:617675 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Senior-Loken Syndrome 8 |
|
Pallor, Polydactyly |
OMIM:616307 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Anemic pallor, Abnormality of skin pigmentation, Absent radius, Short ... |
OMIM:227650 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Hereditary Spherocytosis |
|
Growth delay, Skin ulcer, Pallor |
ORPHA:822 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Incontinentia Pigmenti |
|
Short stature, Erythema, Pallor, Abnormality of skin pigmentation |
OMIM:308300 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Anemi... |
OMIM:227646 |
| Diamond-Blackfan Anemia 1 |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Partial duplication of thumb ... |
OMIM:105650 |
| Waldenström Macroglobulinemia |
|
Purpura, Pallor |
ORPHA:33226 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
| Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
| Degcags Syndrome |
|
Toe syndactyly, Hypopigmentation of the skin, Short thumb, Preaxial hand polydactyly, Intrauterin... |
OMIM:619488 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Growth delay |
ORPHA:329971 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor |
OMIM:277400 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
| Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Pallor, Partial duplication of thumb phalanx, Triphalangeal thumb, Sho... |
ORPHA:124 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pallor, Clubbing, Swelling of proximal interphalangeal joints |
ORPHA:3260 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Growth delay, Abnormal metaphysis morphology, Pallor |
ORPHA:667 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Pallor |
ORPHA:91347 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
