Hypotrichosis 1 |
|
Sparse body hair, Sparse axillary hair, Abnormality of the nail, Sparse eyebrow, Sparse hair, Spa... |
OMIM:605389 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Hypotrichosis 9 |
|
Sparse body hair, Sparse scalp hair |
OMIM:614237 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair |
ORPHA:55654 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Hypotrichosis 11 |
|
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hypotrichosis 10 |
|
Sparse eyelashes, Sparse body hair, Sparse eyebrow |
OMIM:614238 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:620199 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Hypotrichosis 4 |
|
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:146550 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Witkop Syndrome |
|
Nail pits, Ridged nail, Fine hair, Concave nail, Small nail, Sparse hair |
OMIM:189500 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail |
OMIM:614928 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Onychogryposis of t... |
OMIM:617294 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dysplasia, Concave nail, Absent eyelashes, Nail dystrophy, Sparse hair, Atrichia |
OMIM:614931 |
Woolly Hair, Autosomal Recessive 3 |
|
Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair |
OMIM:616760 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... |
ORPHA:2722 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... |
ORPHA:86841 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... |
OMIM:616860 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Abnormal eyelash morphology, Abnormal toenail morphology, Irregular hyperpigmen... |
ORPHA:1818 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair |
OMIM:203655 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension, Nephrotic synd... |
OMIM:603965 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse axillary hair, Abnormality of the nail, Absent eyebrow, Onychogryposis of toenails, Nail d... |
ORPHA:1808 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... |
OMIM:224120 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Melanocyt... |
ORPHA:1008 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... |
ORPHA:848 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Fine hair, Nail dystrophy |
OMIM:300652 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Trichodysplasia-Xeroderma Syndrome |
|
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... |
ORPHA:3361 |
Alopecia Universalis |
|
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes |
ORPHA:701 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental... |
OMIM:613237 |
Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Proteinuria, Renal insufficiency, Hypertension, Hematuria, Focal segmental glomerulosclerosis |
OMIM:607832 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal cortical hyperech... |
OMIM:619263 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Microcytic anemia, Thrombocytosis |
OMIM:604416 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... |
OMIM:300835 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal cortic... |
OMIM:603278 |
Alopecia Areata 1 |
|
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis |
OMIM:104000 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Pili torti, Congenital onychodystrophy, Onycholysis, Brittle hair, Alopecia, Ab... |
OMIM:602032 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, M... |
OMIM:620056 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Monilethrix |
|
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair |
OMIM:158000 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Hypotrichosis 7 |
|
Sparse body hair, Sparse axillary hair, Brittle hair, Abnormality of the nail, Abnormal sweat gla... |
OMIM:604379 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:234030 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Anemia, Tubul... |
OMIM:613092 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Hypertrichosis Lanuginosa Congenita |
|
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation |
ORPHA:2222 |
Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia |
OMIM:312500 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten... |
OMIM:601894 |
Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:618176 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Cyanosis, Transient Neonatal |
|
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Reticulocytosis, Hemolytic anemia, Hypochromia, Intra... |
ORPHA:71275 |
Hypertrichosis, Congenital Generalized |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Abnormality of the nail, Alopecia totalis |
OMIM:302000 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hypopigmentation, Spotty hyperpigmentation, Distichiasis, Low anterior hairline, Absent ey... |
ORPHA:79133 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Dystrophic fingernails, Sparse scalp hair |
OMIM:614927 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Hepatic steatosis, Microcytic anemia |
OMIM:618805 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Hypoplastic fifth toenail, Nail dysplasia, Onychogryposis, Mottled pigmentation of the trunk and ... |
OMIM:131960 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Dyschromatosis Universalis Hereditaria |
|
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Multiple c... |
ORPHA:241 |
Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal insufficiency, Hypertension, Renal hypoplasia, Sparse pubic hair |
OMIM:618681 |
Atransferrinemia |
|
Hypochromic anemia, Abnormality of the liver |
OMIM:209300 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:619041 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Hypopigmented skin patches, Alopecia, Hyperpigmentation of the skin... |
ORPHA:2251 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Reticulated skin pigmentation, Nail dysplasia, Hypomelanotic macule, Mot... |
ORPHA:79397 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair |
OMIM:616099 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice |
OMIM:206400 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
Monilethrix |
|
Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, Brittle hai... |
ORPHA:573 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Brittle hair, Alopecia, Hyperpigmentation of the skin, Sparse eyebrow, Leukonychi... |
OMIM:104100 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... |
OMIM:616689 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Intrauterine growth retardation, Increased mean corpuscular... |
OMIM:617021 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Ung... |
ORPHA:1433 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia |
OMIM:619013 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Jaundice, Extramedullary hematopoiesi... |
ORPHA:231226 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Microcytic anemia, Sea-blue hi... |
OMIM:257200 |
Nephronophthisis |
|
Renal insufficiency, Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly |
OMIM:604273 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Anemia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Neut... |
OMIM:617056 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:616959 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, D... |
OMIM:614455 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Hypotrichosis 13 |
|
Sparse hair, Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes |
OMIM:615896 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Pili torti |
OMIM:607903 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... |
ORPHA:231222 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hypotrichosis 14 |
|
Sparse body hair, Absent axillary hair, Short eyelashes, Sparse hair, Sparse pubic hair |
OMIM:618275 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythroid hyper... |
OMIM:600462 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... |
OMIM:308990 |
Crandall Syndrome |
|
Sparse body hair, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti |
ORPHA:202 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Trichodental Dysplasia |
|
Sparse hair, Fine hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria, Hypertension |
OMIM:189800 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Scarring alopecia of scalp, Nail dystrophy, Abnormality of skin pigm... |
ORPHA:79402 |
Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair |
OMIM:211390 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension |
ORPHA:2613 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... |
ORPHA:822 |
Hypotrichosis 12 |
|
Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland morphology, Slow-growing hair... |
OMIM:615885 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Schimke Immunoosseous Dysplasia |
|
Proteinuria, Pulmonary arterial hypertension, Stage 5 chronic kidney disease, Anemia, Hypermelano... |
OMIM:242900 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Mesa... |
OMIM:616818 |
Rothmund-Thomson Syndrome, Type 1 |
|
Cafe-au-lait spot, Absent eyelashes, Thin nail, Absent eyebrow, Nail dystrophy, Sparse hair |
OMIM:618625 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Hema... |
OMIM:613944 |
Lipoprotein Glomerulopathy |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Mesangial hypercellularity |
OMIM:611771 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Nail dysplasia, Abnormal toenail morphology, Supernumerary nipple, Absent eyela... |
ORPHA:1809 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Heinz Body Anemias |
|
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Atrial septal defect, Hepatomegaly, Hirsutism, Hypertrophic cardiomyopathy, Prot... |
OMIM:617303 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia |
OMIM:245900 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia, Umbilical hernia |
OMIM:606893 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Nephrotic Syndrome, Type 14 |
|
Proteinuria, Diffuse mesangial sclerosis, Micropenis, Stage 5 chronic kidney disease, Lymphopenia... |
OMIM:617575 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:618349 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Normocytic anemia, Microcytic anemia, Macrocytic anemia,... |
ORPHA:398063 |
Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Central heterochromia, Distal amyotrophy, Pigmentary retinopathy, Alopecia, Hypop... |
OMIM:275400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten... |
OMIM:161900 |
Nephrotic Syndrome, Type 11 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... |
OMIM:616730 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt... |
OMIM:601705 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... |
OMIM:618849 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:259710 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... |
OMIM:235700 |
Porphyria Cutanea Tarda, Type I |
|
Hypertrichosis, Hyperpigmentation of the skin |
OMIM:176090 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Onycholysis, Hyperpigmentation in sun-exposed areas, Porphyrinuria, Alopecia |
OMIM:176100 |
Aapoaiv Amyloidosis |
|
Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Left... |
ORPHA:439232 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:619487 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Fine hair, Slow-growing hair, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:129490 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Hypertension, Rena... |
OMIM:616733 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Loeffler Endocarditis |
|
Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, Myocardia... |
ORPHA:75566 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Intrauterine growth retardation |
OMIM:610198 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Abnormality of skin pigmentation, Abnormal fingernail morphology |
ORPHA:1810 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Hypertension, Nephropathy |
ORPHA:2820 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor |
ORPHA:517 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy |
OMIM:619692 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:163596 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Extramedullary hemat... |
ORPHA:231214 |
Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:46487 |
Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Ascites |
ORPHA:90308 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Cln3 Disease |
|
Vacuolated lymphocytes, Left ventricular hypertrophy, Pigmentary retinopathy, Urinary bladder sph... |
ORPHA:228346 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:607624 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia |
OMIM:608898 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... |
OMIM:612714 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse hair, Sparse eyelashe... |
OMIM:613102 |
Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:617731 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Anemia, Nephrotic syndrome, Glomerular sclerosis, Decreased level of coenzyme Q10 in... |
OMIM:607426 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... |
OMIM:615559 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Proteinuria, Pulmonary arterial hypertension, Hypertension, Lymphopeni... |
ORPHA:1830 |
Fabry Disease |
|
Proteinuria, Anemia, Left ventricular hypertrophy, Arrhythmia, Renal insufficiency, Hypertension,... |
OMIM:301500 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... |
OMIM:301006 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Nephrotic syndrome, Glomerular sclerosis, ... |
OMIM:619428 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Dermoodontodysplasia |
|
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Sparse scalp hair, ... |
ORPHA:1660 |
Nephrosialidosis |
|
Bone-marrow foam cells, Renal insufficiency, Nephropathy, Nephrotic syndrome, Pericardial effusion |
OMIM:256150 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Anemia, Left ventricular hypertrophy, A... |
ORPHA:85451 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Freckling, Fine hair, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair |
ORPHA:1573 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hypertension, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Galloway-Mowat Syndrome 4 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hypermelanotic macule, ... |
OMIM:617730 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Parc Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes |
OMIM:600331 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertro... |
OMIM:619048 |
Preeclampsia |
|
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Elevated sys... |
ORPHA:275555 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Sparse body hair, Onycholysis, Ridged nail, Small nail, Thin nail, Apocrine hidrocystoma,... |
OMIM:224750 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Bazex-Dupré-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Sparse hair, Pili ... |
ORPHA:113 |
Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Cerebral hemorrhage, Renal insufficiency, Hyp... |
ORPHA:84090 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Hepatic steatosis, Macrocytic anemia, Anemia |
OMIM:615438 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Hema... |
OMIM:161950 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hypopigmentation of the skin, Congestiv... |
OMIM:269920 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Renal insufficiency, Cardiomyopathy, Nephropathy... |
ORPHA:1909 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612528 |
Alport Syndrome |
|
Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer... |
ORPHA:63 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... |
OMIM:193510 |
Galloway-Mowat Syndrome 7 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... |
OMIM:618348 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia |
OMIM:259730 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Hyperte... |
ORPHA:329918 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Intrauterine growth retardation, Ascites, Anemia |
ORPHA:295 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis |
OMIM:103500 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Anemia, Hypertension, Nephropathy, Abnormal mitral valve morphology, Nephrotic syndrome |
ORPHA:1192 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Distichiasis, Absent lower eyelashes, Low anterior hairline, Sparse hair |
OMIM:227260 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Anemia, Alopecia, Abnormal fingernail morphology, Fingernail dysplasia, Hypopl... |
ORPHA:2325 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, Alopecia, Lymp... |
OMIM:301080 |
Maternally-Inherited Diabetes And Deafness |
|
Proteinuria, Glomerulopathy, Arrhythmia, Renal insufficiency, Hypertension, Congestive heart fail... |
ORPHA:225 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia |
ORPHA:499 |
Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular ejection fraction... |
OMIM:612201 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Piebaldism, Partial albinism, Heterochro... |
ORPHA:998 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pu... |
ORPHA:567548 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Frasier Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension, Nephrotic syndrome, Focal segment... |
ORPHA:347 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Leukocytosis, Cerebral hemorrhage, Anemia, Congenital thrombocy... |
OMIM:618886 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... |
OMIM:145250 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy |
OMIM:616833 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria |
ORPHA:2134 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:613839 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Hypertension |
ORPHA:3188 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart... |
OMIM:615248 |
Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Anemia, Renal... |
OMIM:619113 |
Alopecia Antibody Deficiency |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology |
ORPHA:1006 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension, Nephronophthisis, Abnormali... |
ORPHA:3156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular systolic dysfunction, Micropenis, Left ventricular hypertrophy, Mu... |
OMIM:613156 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Proteinuria, Normocytic anemia, Weakness of facial musculature, Cardiomyopath... |
ORPHA:247691 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Microangiopathic hemolytic anem... |
OMIM:612925 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Slow-growing hair, Sparse hair, Sparse eyelashes, Sparse scalp hair |
OMIM:618535 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Reticulocytosis, Splenomegaly |
OMIM:179700 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Patchy alopecia, Anemia, Dystrophic fingernails, Hepatomegaly, Dystrophic toena... |
ORPHA:2930 |
Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Arrhythmia,... |
ORPHA:54057 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Intrauterine growth retardation, Macrocytic anemia |
OMIM:615578 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
ORPHA:656 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly |
OMIM:613561 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Left atrial enlargement, Left ventricu... |
OMIM:300280 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
Hypotrichosis 5 |
|
Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m... |
OMIM:612841 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Hypertension, Hepatomegaly, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebrow morphology, Fine ... |
ORPHA:90368 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Niemann-Pick Disease, Type B |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Hepatomegaly, A... |
ORPHA:2584 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Stillbirth,... |
OMIM:259720 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Stage 5 chronic kidney dise... |
ORPHA:976 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Short stature, Thrombocyto... |
ORPHA:49827 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... |
ORPHA:3208 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Hepatomegaly |
OMIM:619423 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Microcytic anemia, Neutropenia |
OMIM:251900 |
Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Trichoepithelioma, Coarse hair, Hyperpigmentation of the skin, Sparse hair,... |
OMIM:301845 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Nephrotic Syndrome, Type 1 |
|
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ... |
OMIM:256300 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Hypopigmented skin patches, Distichiasis, Highly arched eyebrow, Sparse l... |
ORPHA:1807 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair, Abnormality of retinal pigmentation |
ORPHA:1264 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... |
OMIM:612926 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Dystrophic fingernails, Alopecia of scalp, Absent eyelashes, Absent eyebrow, Nail dystrophy, Spar... |
OMIM:604536 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Pallor, Growth delay, Poikilocytosis, Spl... |
OMIM:615234 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Anemia, Cholestasis, Hepatitis, Portal hypertension, Hypochromic micro... |
ORPHA:440713 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Clouston Syndrome |
|
Nail dysplasia, Absent axillary hair, Onycholysis, Fine hair, Brittle hair, Alopecia, Small nail,... |
OMIM:129500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Hypertension, Micropenis, Anemia |
ORPHA:52022 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia |
OMIM:225050 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Nail pits, Patchy alopecia, Ridged nail, Vitiligo, Abnormality of the periungu... |
ORPHA:79153 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... |
OMIM:612924 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis |
OMIM:615993 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Elevated hepatic i... |
OMIM:206100 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... |
OMIM:614676 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Familial Reactive Perforating Collagenosis |
|
Spotty hyperpigmentation, Chronic kidney disease, Abnormal fingernail morphology |
ORPHA:79147 |
Noonan Syndrome 8 |
|
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Curly hair, Atrial septal def... |
OMIM:615355 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse ... |
OMIM:602400 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Reduced left ventricular ejection fraction, Hy... |
OMIM:613876 |
Babesiosis |
|
Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Congestive hea... |
ORPHA:108 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Coarse hair, Focal segmental glomerulosclerosis, Diffuse mesangia... |
OMIM:619603 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, White eyelashes, Hypopigmentation of the skin, Red... |
ORPHA:79433 |
Fixed Subaortic Stenosis |
|
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, V... |
ORPHA:3092 |
Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Small vessel vasculi... |
ORPHA:93126 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Moderate intrauterine growth retardation, Microcytic anemia |
ORPHA:293967 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, G... |
ORPHA:79303 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:203200 |
Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
Frasier Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612126 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... |
OMIM:615382 |
Osteopetrosis, Autosomal Recessive 8 |
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Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia |
OMIM:615085 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reduced red cell pyruvate kinase level, Reticulocytosis, Intrauterine growth retardation, Decreas... |
OMIM:266200 |
Immunodeficiency, Common Variable, 6 |
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Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
Acute Peripheral Arterial Occlusion |
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Leukocytosis, Pallor |
ORPHA:90064 |
Cardiofaciocutaneous Syndrome 2 |
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Curly hair, Fine hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
Dilated Cardiomyopathy With Ataxia |
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