Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus, Anemia |
ORPHA:3319 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in ha... |
OMIM:607624 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia |
OMIM:617056 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612924 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612926 |
Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... |
OMIM:193510 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612925 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... |
OMIM:300946 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:203200 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
Woolly Hair Nevus |
|
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... |
ORPHA:79414 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Abnormal number of dense granules |
OMIM:614072 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine |
OMIM:617744 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... |
ORPHA:848 |
Methionine Malabsorption Syndrome |
|
Blue irides, Positive ferric chloride test, Aminoaciduria, White hair |
OMIM:250900 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Elevated circulating creatinine concentration, Anemia |
OMIM:620366 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... |
ORPHA:897 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism |
ORPHA:79476 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... |
OMIM:235400 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... |
OMIM:274150 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... |
ORPHA:894 |
Piebaldism |
|
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... |
ORPHA:79435 |
Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Iris hypopigmentation, Leukopenia, Abnormal eyelash mor... |
ORPHA:381 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia |
OMIM:608104 |
Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... |
ORPHA:3437 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... |
OMIM:618885 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Premature graying of hair, Thrombocytopenia, Nail dystrophy, Abnormal leukocyte morpholog... |
ORPHA:3322 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Oculocutaneous Albinism |
|
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... |
ORPHA:55 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:263400 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177910 |
Hereditary Methemoglobinemia |
|
Abnormality of the nail, Methemoglobinemia |
ORPHA:621 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel... |
OMIM:214500 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... |
ORPHA:79432 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Hypopigmentation of hair, Lymphopenia, Premature graying of hair |
ORPHA:100 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231222 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... |
ORPHA:352731 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Oculocutaneous Albinism Type 1B |
|
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:79434 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Reduced hematocrit, Elevated circulating c... |
ORPHA:79126 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411515 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Elevated circulating methylsuccinic... |
OMIM:618156 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Albinism, Ocular albinism, Fair hair, Iris transillumination def... |
OMIM:619172 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair, Splenomegaly |
OMIM:618541 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia |
ORPHA:230 |
Bone Marrow Failure Syndrome 3 |
|
Hypomelanotic macule, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Small na... |
OMIM:617052 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration |
OMIM:620138 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple, Elevated circulating creatinine concentration |
OMIM:614376 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... |
ORPHA:999 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hemophagocytosis, Large clumps of pigment irregularly distributed along h... |
ORPHA:167 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... |
ORPHA:90041 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia |
ORPHA:79254 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Oculocutaneous Albinism Type 1A |
|
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... |
ORPHA:79431 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... |
ORPHA:3440 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... |
OMIM:608836 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Decreased circulating apolipoprotein A-I concentration, Anemia, Decreased HDL... |
ORPHA:85450 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Fair hair |
OMIM:614613 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment... |
OMIM:203100 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... |
OMIM:613095 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normochromic anemia, Normocytic anemia, Elevated circulating creatinine concentration |
ORPHA:247691 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Multiple Myeloma |
|
Anemia, Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
Carney Complex, Type 1 |
|
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions |
OMIM:160980 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... |
ORPHA:36234 |
Hermansky-Pudlak Syndrome 1 |
|
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... |
OMIM:203300 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Hyperuricemia, Elevated circulating creatinine concentration |
ORPHA:79233 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... |
ORPHA:3214 |
Muenke Syndrome |
|
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches |
ORPHA:53271 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Generalized hypopigmentation, Uncombable hair, Trichorrhexis nodosa, Br... |
ORPHA:84064 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Normocytic anemia, Increased blood urea ni... |
ORPHA:49041 |
Waardenburg Syndrome, Type 4C |
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Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613266 |
46,Xy Sex Reversal 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98795 |
Diamond-Blackfan Anemia |
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Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, L... |
ORPHA:124 |
Lead Poisoning |
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Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Imbalan... |
ORPHA:330015 |
Shwachman-Diamond Syndrome 1 |
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Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... |
OMIM:260400 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Aminoaciduria, Hypocalce... |
ORPHA:411634 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... |
ORPHA:238468 |
Thymoma |
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Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411511 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Marburg Hemorrhagic Fever |
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Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp... |
ORPHA:99826 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism, Anemia |
ORPHA:2719 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circulating cre... |
ORPHA:340 |
Hermansky-Pudlak Syndrome |
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Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Pa... |
ORPHA:79430 |
Vici Syndrome |
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Leukopenia, Albinism, Lymphopenia, Elevated circulating creatine kinase concentration, T lymphocy... |
OMIM:242840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98794 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:847 |
Papillorenal Syndrome |
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Elevated circulating creatinine concentration |
OMIM:120330 |
Diamond-Blackfan Anemia 1 |
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Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Hypopigmentat... |
ORPHA:163746 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Cystinosis, Nephropathic |
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Hypophosphatemia, Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypokalemia, Reduc... |
OMIM:219800 |
Degcags Syndrome |
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Hepatosplenomegaly, Long eyelashes, Leukopenia, Abnormal eyelash morphology, Abnormal spleen morp... |
OMIM:619488 |
Oligomeganephronia |
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Elevated circulating creatinine concentration |
ORPHA:2260 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Abnormality of retinal pigmentation, Normochromic anemia, Elevated circulating... |
ORPHA:91500 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration |
ORPHA:730 |
Pauci-Immune Glomerulonephritis |
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Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Yellow Fever |
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Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... |
ORPHA:99829 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Duodenal Neuroendocrine Tumor |
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Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Prader-Willi Syndrome |
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Iris hypopigmentation, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentati... |
OMIM:176270 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
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Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... |
ORPHA:177907 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98754 |
Renal Cysts And Diabetes Syndrome |
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Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:137920 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:398073 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Hyperphosphatemia, Red hair, Hypocalcemia, Fair hair |
ORPHA:280651 |
Igg4-Related Kidney Disease |
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Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... |
ORPHA:449395 |
Menkes Disease |
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Sparse hair, Hypopigmentation of hair, Woolly hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
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Elevated 7-dehydrocholesterol, Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia, Increased circu... |
OMIM:619534 |