| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus, Obesity |
OMIM:605231 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Melanocytic nevus, Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity, Hypogonadism |
OMIM:615987 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy... |
OMIM:615989 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, External genital hypoplasia, Stage 5 chronic kidney disease, Renal... |
OMIM:615993 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Primary amenorrhea... |
OMIM:191830 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism,... |
OMIM:615982 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Renal, Genital, And Middle Ear Anomalies |
|
Renal hypoplasia/aplasia, Vaginal atresia |
OMIM:267400 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki... |
OMIM:617914 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Pancreatic lympha... |
ORPHA:1655 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... |
ORPHA:2237 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Multiple cafe-au-lait spots, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of t... |
OMIM:616258 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Abnormality of the kidney, Abnormality of the ovary, Nep... |
OMIM:209900 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... |
OMIM:236700 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... |
ORPHA:42665 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:3301 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Meacham Syndrome |
|
Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused renal ectopia, Hydrometroc... |
ORPHA:3097 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Complete Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Increased serum estradiol, Increased serum testosterone level, Abnormal circu... |
ORPHA:99429 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Elevated circulat... |
OMIM:300068 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| C Syndrome |
|
Failure to thrive, Renal cortical cysts, Clitoral hypertrophy, Cryptorchidism |
OMIM:211750 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Neph... |
OMIM:194072 |
| Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Hydrops fetalis, Abnormal renal tubule morphology, Oligohydramnios,... |
ORPHA:1909 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Renal agenesis, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix m... |
ORPHA:3411 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
| Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... |
ORPHA:189 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Oligohydramnios, Nephropathy, Multiple renal cysts, Renotub... |
ORPHA:3033 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hy... |
ORPHA:110 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Thrombocytope... |
OMIM:617443 |
| Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Brittle ... |
ORPHA:202 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Vaginal atresia, Abnormal renal morphology, Hypoplastic labia majora, Fused labia minora |
OMIM:207410 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Decreased fertility, Vesicoureteral reflux, Multicystic kidney dysplasi... |
ORPHA:2970 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... |
OMIM:273250 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... |
ORPHA:754 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Thrombocytopenia, Abnormal platelet ag... |
OMIM:614171 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Oligohydramnios |
ORPHA:3316 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Sparse b... |
ORPHA:90796 |
| Nphp3-Related Meckel-Like Syndrome |
|
Oligohydramnios, Polyhydramnios, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Neonatal death |
OMIM:614870 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, Eunuchoid habitus, Del... |
ORPHA:432 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplasi... |
ORPHA:2052 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Dis... |
OMIM:146255 |
| Wt Limb-Blood Syndrome |
|
Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small nail, Small for gestational age, Polycystic kidney dysplasia, Renal cyst, Failure to thrive... |
OMIM:614866 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Mosaic Trisomy 1 |
|
Small nail, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Hypoplastic thumbnail |
ORPHA:1692 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Trichorrhexis nodosa, Brittle hair, Small for gestational age, Galactosuria, Fine hai... |
OMIM:222470 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Failure to thrive, Hypospadias, Albuminuria, Cryptorchidism, Adrenal hypoplasia, R... |
OMIM:214100 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal cortical cysts, Renal dysplasia, Supernumerary nipple, Failure to thrive, Hypospadias, Rena... |
ORPHA:397715 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Impaired platelet aggr... |
OMIM:614072 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Ascites |
OMIM:174050 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... |
OMIM:130650 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Cryptorchidism, Hydronep... |
OMIM:613390 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Alopecia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias, Gonadal dysgenesis, male |
OMIM:231060 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... |
OMIM:300946 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Fraser Syndrome 1 |
|
Small nail, Bicornuate uterus, Absent eyelashes, Renal hypoplasia/aplasia, Extension of hair grow... |
OMIM:219000 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycyst... |
OMIM:263200 |
| Apert Syndrome |
|
Vaginal atresia, Hydronephrosis, Cryptorchidism |
OMIM:101200 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Decreased serum insulin-like growth factor 1, Decreased response to growth ... |
ORPHA:79323 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s... |
ORPHA:753 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia |
OMIM:616576 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism |
OMIM:613730 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism |
ORPHA:1166 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:610539 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Hirsutism, Horseshoe kidney |
OMIM:619318 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Abnormal labia morphology, Noc... |
ORPHA:37202 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Penile hypospadias, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchidism, Glandul... |
ORPHA:456328 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Nail dysplasia, Ovarian cyst, Unicornuate uterus, Small nail, Multicys... |
OMIM:614527 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Gener... |
ORPHA:3322 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Polyhydramnios, Hepatic cysts, Stillbirth |
OMIM:263630 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Adrenal gland agenesis, Absent external genitalia, Renal agenesis, Vaginal atre... |
OMIM:273395 |
| Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Woolly hair, Nail p... |
OMIM:278150 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... |
OMIM:231200 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Renal cortical cysts |
OMIM:609180 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Hyperpigmentation of the skin, Thrombocytopenia |
OMIM:619151 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... |
OMIM:194080 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal vagina morphology |
ORPHA:2123 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Abnorm... |
ORPHA:381 |
| Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Thin skin, Precocious puberty, Hyperthyroidism, Abnormal testis... |
ORPHA:457059 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Thrombocytopenia, Nail dystrophy, Pancytopenia |
OMIM:613987 |
| Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Thrombocytopenia |
ORPHA:67048 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Small for gestational age, Glycosuria, Chronic k... |
ORPHA:97362 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Vaginal atresia, Nail dysplasia, Hydrometrocolpos, Horseshoe kidney |
OMIM:617088 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Hydronephrosis, Hypoplasia of penis, Failure to thrive, Hypospadias, Diabetes mellitus,... |
ORPHA:2315 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Nail dysplasia, Hirsutism, Fragile nails, Thrombocyt... |
OMIM:617475 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Oligohydramnios, Renal cyst, Stillbirth, Renal hypoplasia, Ne... |
OMIM:236500 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Alopecia universalis, Abnormality of the uterus, Hypoplasia of the ovar... |
ORPHA:3130 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hypopigmentation of the skin, Hyperpigmentation of the skin, Thrombocytop... |
ORPHA:158029 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:618116 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Polycythemia |
OMIM:600501 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Hemochromatosis, Type 1 |
|
Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon... |
OMIM:235200 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Small nail, Absent eyelashes, Renal cyst, Absent eyebrow, Horseshoe kidney, Cryptorchid... |
ORPHA:166035 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Stage 5 ... |
OMIM:137920 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... |
ORPHA:79477 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypopl... |
OMIM:601076 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Duplication Of Urethra |
|
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... |
ORPHA:237 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Obesity, Micropenis |
OMIM:615994 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Alopecia, Premature graying of hair, Lymphopenia, Nail pits, Ridged nail, Ret... |
OMIM:127550 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati... |
OMIM:614074 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease |
OMIM:617056 |
| Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys |
OMIM:613885 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydrometrocolpo... |
ORPHA:2473 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Secondary amenorrhea |
ORPHA:3375 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Multicystic kidney dysplasia, Fetal megacystis, Cryptorchidism |
ORPHA:73246 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia, Abnormality of retinal pigmentation |
ORPHA:858 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Trisomy 13 |
|
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Abnormal eyelash morphology, Cry... |
ORPHA:3378 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Premature graying of hair, Pancytopenia, White forelock, Nail dysplasia, Thrombocytop... |
OMIM:613989 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Frontotemporal hypertrichosis, Bicornuate uterus |
OMIM:263210 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Silver-Russell Syndrome |
|
Precocious puberty, Decreased testicular size, Cachexia, Premature adrenarche, Hypospadias, Crypt... |
ORPHA:813 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia |
OMIM:612783 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Aplasia/Hypoplasia of the eyebrow, Polycystic kidney dysplasia, Fine hair, Renal cyst, Nail dyspl... |
OMIM:614091 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Myeloid leukemia, Premature graying of hair, Pancytopenia, Aplastic anemia, Leukemia |
OMIM:614743 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Maternal diabetes, Long penis, Abnormal lo... |
ORPHA:1988 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
| Chand Syndrome |
|
Hydroureter, Nail dysplasia, Curly hair, Imperforate hymen |
ORPHA:1401 |
| Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Fine hair, Cryptorchidism, Small scrotum, Clitor... |
ORPHA:85201 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Vaginal stricture, Urethral stricture, Abnormality of the urinary system, Anonychia, Nail dystrophy |
ORPHA:79409 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Th... |
OMIM:304790 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ... |
ORPHA:2869 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Absent eyelashes, Vaginal dryness, Supernumerary nipple, Hypospadias, Hyperconv... |
OMIM:106260 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... |
OMIM:214500 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormal morphology of female internal genitalia, Renal hypoplasia/aplasia, Renal cyst, Abnormali... |
ORPHA:1834 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre... |
OMIM:613011 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Small nail, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junc... |
OMIM:140000 |
| Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinoph... |
OMIM:603554 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Hematuria, Abnormality of the nail, Abnormal fingernail morph... |
ORPHA:1334 |
| Camptobrachydactyly |
|
Abnormal fingernail morphology, Septate vagina, Hypoplastic toenails |
ORPHA:1319 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Fair hair, Nail dysplasia, Sparse eyelashes, Sparse hair, Vesicoureteral reflux,... |
OMIM:129900 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss, Renal cyst, Hepatic cysts, Ovarian cyst, Membranous ... |
ORPHA:400 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Nail dystrophy, Hypogonadism |
OMIM:618165 |
| Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
| Harrod Syndrome |
|
Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:2115 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Small nail, Pancytopenia, Hyperpigmentation of the skin, Reticular hyperpigmen... |
OMIM:224230 |
| Meckel Syndrome, Type 10 |
|
Renal cyst, Hypospadias, Micropenis |
OMIM:614175 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Fair hair, Sparse eyelashes, Vesicoureteral reflux, Sparse axillary hair, Absenc... |
OMIM:604292 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:507 |
| Vacterl/Vater Association |
|
Hydronephrosis, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Renal agenesis,... |
ORPHA:887 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Thrombocytopenia, Anemia, Macrocytic anemia |
ORPHA:27 |
| Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria |
OMIM:611773 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... |
ORPHA:2973 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:616050 |
| Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
| Trisomy 20P |
|
Macroorchidism, Hydronephrosis, Coarse hair, Abnormality of the kidney, Hypospadias, Abnormality ... |
ORPHA:261318 |
| Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
| Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, ... |
ORPHA:2075 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Diabetes mellitus, Pancrea... |
ORPHA:261265 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Alopecia, Premature graying of hair, Pancytopenia, Fine hair, Nail dysplasia, Reticul... |
OMIM:613990 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
| Trisomy 1Q |
|
Ambiguous genitalia, Hypoplastic toenails, Aplasia/Hypoplasia of the nails, Multicystic kidney dy... |
ORPHA:261344 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Neurogenic bladder, Hydroureter, Testicular atrophy, Diabetes... |
OMIM:222300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... |
ORPHA:100026 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Kleefstra Syndrome |
|
Vesicoureteral reflux, Synophrys, Hypoplasia of penis, Supernumerary nipple, Renal cyst, Hypospad... |
ORPHA:261494 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
| Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema |
OMIM:211890 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia |
OMIM:112200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Bicornuate uterus,... |
OMIM:300707 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:93111 |
| Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal neoplasm, Renal cyst |
OMIM:135150 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly |
OMIM:150550 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, Abnormality of the uterus, Hyp... |
ORPHA:3440 |
| Trisomy 17P |
|
High anterior hairline, Broad eyebrow, Polycystic kidney dysplasia, Hypoplasia of penis, Urethral... |
ORPHA:261290 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
| Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... |
OMIM:619172 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Renal duplication, Bifid scrotum, Renal agenesis, Hyp... |
ORPHA:83628 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Failure to thrive, Cryptorc... |
OMIM:214110 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
| Distal Tetrasomy 15Q |
|
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocele testis, Large f... |
ORPHA:314588 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormality of retinal pigmentation |
ORPHA:290 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Widow's peak, Bilateral cryptorchidism, Decreased serum testosterone concentration... |
OMIM:305400 |
| 2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Multicystic kidney dysplasia, Hypogonadism, Decreased testicular size, Long eyela... |
ORPHA:261349 |
| Mosaic Trisomy 9 |
|
Abnormal fallopian tube morphology, Small nail, Webbed neck, Renal dysplasia, Hypoplasia of penis... |
ORPHA:99776 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Decreased response to growth hormone... |
ORPHA:3464 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Sparse lateral eyebrow, Anterior pituitary hypoplasia, Shawl scrotum, Bicornua... |
OMIM:181450 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Oligohydramnios, Renal ... |
ORPHA:255249 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Primary adrenal insufficiency, Failure to thrive, Hypospadias, Cryp... |
ORPHA:912 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Thin skin, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Abnormality of the na... |
OMIM:607823 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Absent scrotum, Absence of labia majora, Synophrys, Broad eyebrow, Hypoplastic la... |
ORPHA:495875 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
| Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hydronephrosis, Hypoplastic toenails, Imperforate hymen, Urinary incontinence, Renal agenesis, Ur... |
OMIM:619522 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... |
OMIM:154230 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hyperpigmentation of the skin, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Male sexual dysfunction, Bifid uterus, Abnormalit... |
ORPHA:322 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
| Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Abnormal renal morphology, Synophrys, Long eyelashes, Hypoplastic labia ma... |
OMIM:122470 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A... |
ORPHA:3109 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Nephroblastoma, Uterine leiomyoma, Renal insufficiency, Weight loss, R... |
ORPHA:143 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... |
OMIM:308240 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Anemia, Hypopigmented skin patches, Thrombocytopenia, Neutropenia |
ORPHA:47 |
| Cog4-Cdg |
|
Thrombocytopenia, Thick hair, Hepatosplenomegaly |
ORPHA:263501 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Small for gesta... |
OMIM:257300 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
ORPHA:79242 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Gen... |
OMIM:608233 |
| Verheij Syndrome |
|
Renal cyst, Renal agenesis, Renal hypoplasia |
OMIM:615583 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| 46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... |
ORPHA:325345 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic cysts, Renal cyst, Bile duct proliferation, Horseshoe kidney, Aplasia... |
OMIM:612284 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Small nail, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
| Tuberous Sclerosis 1 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma,... |
OMIM:191100 |
| Prolidase Deficiency |
|
Anemia, Low posterior hairline, Facial hirsutism, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Curly hair, Sparse hair |
OMIM:619980 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Synophrys, Renal fibrosis, High... |
OMIM:618161 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Renal dysplasia, Decre... |
OMIM:146510 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Lymphopenia |
ORPHA:100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Oligohydramnios, Stillbirth, Hepatic cysts |
OMIM:615415 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
| Hajdu-Cheney Syndrome |
|
Synophrys, Polycystic kidney dysplasia, Long eyelashes, Short nail, Renal cyst, Failure to thrive... |
OMIM:102500 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
| Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Uterine leiomyoma, Thyroid adenoma, Ovarian dermoid cyst |
ORPHA:480536 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Vesicoureteral reflux, Small nail, Microphallus, Supernumerary nipple, Renal cyst,... |
OMIM:618454 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Nephroblastoma, Uterine leiomyoma, Renal insufficiency, Parathyroid ad... |
ORPHA:99880 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... |
OMIM:301078 |
| Felty Syndrome |
|
Anemia, Irregular hyperpigmentation, Generalized hyperpigmentation, Thrombocytopenia, Neutropenia... |
ORPHA:47612 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... |
ORPHA:465508 |
| Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
| Fryns Syndrome |
|
Small nail, Shawl scrotum, Bicornuate uterus, Bifid scrotum, Renal agenesis, Large for gestationa... |
OMIM:229850 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dy... |
ORPHA:79404 |
| Pagod Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/a... |
ORPHA:991 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... |
OMIM:110100 |
| Lig4 Syndrome |
|
Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Alopecia totalis, Normochromic anemia |
OMIM:618775 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary c... |
OMIM:613159 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Curly hair, Cafe-au-lait spot |
OMIM:616638 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Proximal tubulopathy, Nephrotic syndrome, Premature ovarian insufficiency, Renal ... |
OMIM:212065 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:85212 |
| Transaldolase Deficiency |
|
Anemia, Synophrys, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
OMIM:606003 |
| Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... |
OMIM:258040 |
| Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
| Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Horizontal eyebrow, Synophrys, Widow's peak, Erythroid hypoplasia, Coarse hair, Thrombocy... |
OMIM:620072 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Hyperpigmentation of the skin, Thromb... |
OMIM:600901 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia |
ORPHA:98791 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplastic fingernail, H... |
ORPHA:2059 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency |
OMIM:614922 |
| Joubert Syndrome 2 |
|
Renal cyst, Failure to thrive, Hypoplastic male external genitalia, Nephronophthisis, Renal insuf... |
OMIM:608091 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
| Johanson-Blizzard Syndrome |
|
Hypothyroidism, Sparse scalp hair, Small for gestational age, Frontal upsweep of hair, Fair hair,... |
OMIM:243800 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Abnormal hair whorl |
ORPHA:457284 |
| Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Small for gestational age, Unilateral renal agenesis, Renal cyst, ... |
ORPHA:464306 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Ambiguous genitalia, Renal cyst, Cryptorchidism, Renal hypoplasia |
OMIM:616300 |
| Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells |
OMIM:618048 |
| Currarino Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Bicornuate uterus, Neurogenic bladder, Recurrent uri... |
OMIM:176450 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Hypoplastic fifth fingernail, Decreased response to growth hormone stimulation... |
OMIM:615866 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Synophrys, Long eyelashes, Hirsutism, Coarse hair, Low posterior hairline, Th... |
OMIM:617303 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Anemia, Pancytopenia |
OMIM:613845 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Fine hair, Coarse hair, Hypermelan... |
OMIM:242900 |
| Meacham Syndrome |
|
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Horseshoe kidney, S... |
OMIM:608978 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Megacystis, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:2241 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:274150 |
| Propionic Acidemia |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:606054 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Sparse eyebrow, Hypothyroidism, Multicystic kidney dysplasia, Failure to thrive in infancy |
OMIM:618829 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Polycystic kidney dysplasia, Edema |
OMIM:608776 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Small for gestational age, Frontal upsweep of hair, Hypoplastic labia majora, Uni... |
OMIM:618419 |
| Seckel Syndrome 7 |
|
Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus |
OMIM:614851 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:227650 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... |
ORPHA:158061 |
| Porphyria, Congenital Erythropoietic |
|
Alopecia, Hypopigmentation of the skin, Hemolytic anemia, Hypertrichosis, Absent eyebrow, Hyperpi... |
OMIM:263700 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
| Waardenburg Syndrome, Type 1 |
|
Aplasia of the vagina, Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Whit... |
OMIM:193500 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... |
OMIM:271520 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Glycosuria, Diabetic ketoacidosis, A... |
ORPHA:552 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Posterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst,... |
ORPHA:464311 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Hydrops fetalis, Lymphedema, Oligohydramnios, Mul... |
ORPHA:1318 |
| Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect... |
ORPHA:352731 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia |
OMIM:619644 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly |
OMIM:618541 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251110 |
| Distal Monosomy 12Q |
|
Vesicoureteral reflux, Small nail, Polycystic kidney dysplasia, Pituitary adenoma, Fine hair, Mat... |
ORPHA:96149 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Webbed neck, Supernumerary nipple, Abnormal fingernail morphology, Bifid uterus, ... |
ORPHA:1521 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic toenails, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, ... |
OMIM:220500 |
| Penile Agenesis |
|
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... |
ORPHA:49 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:292 |
| Robinow Syndrome |
|
High anterior hairline, Small nail, Multicystic kidney dysplasia, Small for gestational age, Exte... |
ORPHA:97360 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cy... |
OMIM:193300 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Sparse eyebrow, Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary ni... |
ORPHA:1001 |
| Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the ute... |
ORPHA:69085 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Absent nipple, Renal agenesis... |
OMIM:200980 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyebrow, High anterior hairline, Small nail, Renal cyst, Horseshoe kidney, Sparse eyelashe... |
OMIM:250410 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly |
ORPHA:64743 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypopigmentation of the skin, Neutropenia, Iris hypopigmentation, Abnormal platelet funct... |
ORPHA:167 |
| Noonan Syndrome 4 |
|
High anterior hairline, Sparse eyebrow, Curly hair, Blue irides, Thrombocytopenia |
OMIM:610733 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Edema, Proximal tubulopathy |
OMIM:602579 |
| Adams-Oliver Syndrome |
|
Leukopenia, Alopecia, Absent fingernail, Hypoplastic fingernail, Thrombocytopenia, Aplastic/hypop... |
ORPHA:974 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Tuberous Sclerosis 2 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma,... |
OMIM:613254 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... |
OMIM:216360 |
| Dyskeratosis Congenita |
|
Alopecia, Anemia, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutroph... |
ORPHA:1775 |
| 1P36 Deletion Syndrome |
|
Hypothyroidism, Horizontal eyebrow, Abnormal eyebrow morphology, Abnormality of female external g... |
ORPHA:1606 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Small nail, Broad eyebrow, Widow's peak, Renal cyst, Hypospadias, Cryptorc... |
OMIM:616975 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Premature graying of hair, Fine hair, Nail dysplasia, Thrombocytopenia, Sparse hair, Nail... |
OMIM:612199 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:614700 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251100 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Webbed neck, Synophrys, Ectopic kidney, Testicular atrophy, Abnormality of the Le... |
ORPHA:3063 |
| Diphallia |
|
Renal duplication, Abnormal spermatogenesis, Bifid scrotum, Renal malrotation, Penoscrotal transp... |
ORPHA:227 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki... |
OMIM:208540 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Low posterior hairline, Septate vagina, Uterus didelphys, Micropenis |
OMIM:617925 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:259700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Bifid scrotum, Bicornuate uterus, Renal agenesis, Unilat... |
OMIM:270400 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Hypoplastic labia majora, Pyramidal skinfold extending f... |
OMIM:119500 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Zika Virus Disease |
|
Thrombocytopenia, Retinal pigment epithelial mottling |
ORPHA:448237 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Aplasia of the uterus, Axial malrotation of the kidney, Horseshoe kidney |
ORPHA:3320 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Congenital megaureter, Renal dysplasia, Renal cyst, Hypoparathyroidism, Abnor... |
ORPHA:369837 |
| Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:905 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
| C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Female pseudohermaphroditism, Abnormal ha... |
ORPHA:1308 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Hyperpigmentation of the skin, Thromb... |
OMIM:227645 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercal... |
OMIM:615398 |
| Cornelia De Lange Syndrome |
|
Synophrys, Hypoplastic labia majora, Primary amenorrhea, Thick eyebrow, Vesicoureteral reflux, Mu... |
ORPHA:199 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Bone-marrow foam cells, Thrombocytopenia, ... |
OMIM:278000 |
| Marden-Walker Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Hydroure... |
ORPHA:2461 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Pure red cell aplas... |
ORPHA:124 |
| Townes-Brocks Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Renal insufficiency, Bifid scrotum, Abnormality of the kid... |
ORPHA:857 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
| Roberts Syndrome |
|
Polycystic kidney dysplasia, Long penis, Cryptorchidism, Sparse hair, Clitoral hypertrophy |
ORPHA:3103 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Anemia, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Hirsutism, Thrombocytopenia |
ORPHA:79330 |
| Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Renal malrotation, Hypoplasia of the uterus, Pelvic kidney, Horseshoe kidney, ... |
OMIM:601186 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Thin skin, Sparse scalp hair, Renal dysplasia, Fair hair, Frontal upsweep of ha... |
OMIM:266920 |
| Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma |
ORPHA:220460 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Alopecia, Dry hair, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, P... |
OMIM:311200 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Highly arched eyebrow, Abnormal hair pattern |
ORPHA:261250 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis |
OMIM:613091 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, Anemia, White hair, Lymphopenia |
ORPHA:935 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:508542 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Dysuria, Renal insufficiency, Abnormality of the urethra, Abnormal vagina morphology |
ORPHA:537 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal dysplasia, Renal hypoplasia/apla... |
ORPHA:2538 |
| Diaphanospondylodysostosis |
|
Webbed neck, Enlarged kidney, Cystic renal dysplasia, Hypoplastic fingernail, Nephrogenic rest, H... |
OMIM:608022 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:77259 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Multiple lentigines, Lymphopenia, Hypermelanotic macule, Decreased proportion of naive CD... |
ORPHA:1830 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
| Cyclic Neutropenia |
|
Thrombocytopenia, Decreased eosinophil count, Cyclic neutropenia, Lymphopenia |
ORPHA:2686 |
| Tangier Disease |
|
Thrombocytopenia, Nail dystrophy, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Pallister-Hall Syndrome |
|
Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Renal dysplasia, Hydrometrocolp... |
ORPHA:672 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:267700 |
| Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts, Un... |
ORPHA:538 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Splenom... |
OMIM:603553 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia |
ORPHA:2031 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Nephrolithiasis, Diabetes insipidus, Delayed puberty, Abnormal cal... |
ORPHA:534 |
| Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Nephroblastoma, Generalized hypertrichosis, Renal cyst, Hypospadias, Abno... |
ORPHA:798 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Anemia, Cafe-au-lait spot, Hyperpigmentation of the skin, Thrombocytopenia |
OMIM:603467 |
| Autosomal Recessive Robinow Syndrome |
|
Alopecia, Multicystic kidney dysplasia, Fingernail dysplasia, Long eyelashes, Hypoplasia of penis... |
ORPHA:1507 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis, Renal insufficiency |
ORPHA:445038 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:540 |
| Transketolase Deficiency |
|
Renal cyst, Increased level of ribose in urine, Type I diabetes mellitus, Secondary amenorrhea |
ORPHA:488618 |
| Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia, Hirsutism, Small nail |
OMIM:301056 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Joubert Syndrome 14 |
|
Renal cyst, Highly arched eyebrow |
OMIM:614424 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Hypopigmentation of the skin, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosi... |
ORPHA:79277 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
OMIM:614613 |
| Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Small nail, Multicystic kidney dysplasia, Webbed neck, Hydroureter, Hypoplasia of... |
ORPHA:373 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia, Nail dysplasia, Coarse hair |
OMIM:612394 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... |
OMIM:113650 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Webbed neck, Ambiguous genitalia, female, External genital hypoplasia,... |
OMIM:249000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Fine hair, Hemophagocytosis, Thrombocytopenia, Sparse hair, Splenomegaly |
OMIM:222700 |
| Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leukocytosis, Thrombocytopenia, Fluctu... |
OMIM:610377 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Premature graying of hair, Fingernail dysplasia, Renal agenesis, Hy... |
ORPHA:1297 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:614576 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... |
ORPHA:1505 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, Blue irides, White hair, Absent skin pigment... |
OMIM:203100 |
| Distal Monosomy 15Q |
|
Small nail, Multicystic kidney dysplasia, Small for gestational age, Failure to thrive, Hypospadi... |
ORPHA:1596 |
| Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation |
OMIM:603194 |
| Syndromic Diarrhea |
|
Hypothyroidism, Trichorrhexis nodosa, Hypoplasia of the thymus, Brittle hair, Small for gestation... |
ORPHA:84064 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Small for gestational age, Congenital posterior urethral valve, Stage 5 chron... |
ORPHA:2044 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Small nail, Periorbital hyperpigmentation, Thrombocytopenia, Hypoplastic nipples, Nail dy... |
ORPHA:261323 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Alopecia, Premature graying of hair, Split nail, Panc... |
OMIM:305000 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Failure to thrive, Polycystic ovaries |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group L |
|
Webbed neck, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis |
OMIM:614083 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... |
OMIM:557000 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sacral hypertrichosis, Broad eyebrow, Thrombocytopenia, Highly arched eyebrow |
ORPHA:457351 |
| Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation |
OMIM:611134 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Renal cyst, Failure to thrive, Renal hypoplasia, Highly arched eyebrow, Ur... |
OMIM:618460 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Pancreatic endocrine tumor, Elevated circulati... |
ORPHA:892 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia, Ambiguous genitalia, Hypoplastic nipples |
OMIM:269860 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Renal cyst, Failure to thrive, Dark urine |
ORPHA:79303 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema |
OMIM:619774 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis |
ORPHA:391673 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Alopecia, Periungual erythema, Sparse scalp hair, Multicystic kidney dysplasia, Renal dysplasia, ... |
OMIM:308205 |
| Hajdu-Cheney Syndrome |
|
Synophrys, Abnormal fingernail morphology, Failure to thrive, Hypospadias, Delayed puberty, Multi... |
ORPHA:955 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Pleural ... |
ORPHA:3015 |
| Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Hypothyroidism, Multicystic kidney dysplasia, Renal insufficiency, Bifid s... |
OMIM:107480 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca, Renal hypoplasia/ap... |
ORPHA:1112 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Oligohydramnios, ... |
OMIM:267010 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Cryptorchidism, Ren... |
ORPHA:93271 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of penis,... |
ORPHA:818 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Sparse scalp hair, Polycystic kidney dysplasia, Fine hair, Renal cyst, Failure to... |
OMIM:210710 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, True herma... |
ORPHA:564 |
| Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Multicystic kidney dysplasia, Webbed neck, Cryptorchidism, Ann... |
ORPHA:2308 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
| Microphthalmia, Syndromic 2 |
|
Laterally curved eyebrow, Hypothyroidism, Decreased body weight, Adrenal insufficiency, Hypospadi... |
OMIM:300166 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... |
ORPHA:811 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair quantity, Freckling, Abnormal hair m... |
ORPHA:647 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Nail dysplasia, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis, Extramedul... |
OMIM:259720 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Metrorrhagia, Enlarged kidney, Multiple renal cysts |
ORPHA:464329 |
| Hellp Syndrome |
|
Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Genitopatellar Syndrome |
|
Hypothyroidism, Sparse scalp hair, Multicystic kidney dysplasia, Enlarged labia minora, Labial hy... |
OMIM:606170 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia, Giant platelets |
OMIM:611209 |
| Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Cachexia... |
ORPHA:744 |
| Takenouchi-Kosaki Syndrome |
|
Sparse eyebrow, Synophrys, Thrombocytopenia, Highly arched eyebrow, Increased mean platelet volume |
OMIM:616737 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
| Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Multiple renal cysts, R... |
ORPHA:171929 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
| Dubowitz Syndrome |
|
Anemia, Sparse scalp hair, Sparse lateral eyebrow, Hypoplastic toenails, Abnormality of skin pigm... |
ORPHA:235 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Hypothyroidism, Ambiguous genitalia, Multicystic kidney dysplasia, Vaginal neoplasm |
ORPHA:1052 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Phelan-Mcdermid Syndrome |
|
Toenail dysplasia, Hypoplastic toenails, Vesicoureteral reflux, Abnormality of the kidney, Polycy... |
OMIM:606232 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:227646 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:230900 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:610199 |
| Focal Dermal Hypoplasia |
|
Alopecia, Thin skin, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the n... |
ORPHA:2092 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Hypothyroidism, Congenital megaureter, Adr... |
ORPHA:116 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Long eyelashes, Abnormality of retinal pigmentation, Hepatosplenomegaly, Thro... |
ORPHA:505248 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Weight loss, Abnormality of adrenal morphology, Renal cyst, Abnormality of blad... |
ORPHA:284 |
| Non-Syndromic Anorectal Malformation |
|
Persistent cloaca, Hypospadias, Rectovaginal fistula, Hydrocolpos, Rectourethral fistula |
ORPHA:557 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Weight loss, Phimosis, Hematuria, Onycholysis, Urinary bladder inflammation, Nail dystr... |
ORPHA:99921 |
| Sepsis In Premature Infants |
|
Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:90051 |
| Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Stage 5 chronic kidney dis... |
ORPHA:805 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux, Sparse scalp hair, Hydrometrocolpos, Bilateral cryptorchidism, Alopecia of... |
OMIM:150230 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Okamoto Syndrome |
|
Urinary incontinence, Webbed neck, Extension of hair growth on temples to lateral eyebrow, Bifid ... |
ORPHA:2729 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Nephritis, Renal cyst, Pancreatic fibrosis, Bile duct proliferation, Proteinuri... |
OMIM:208500 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Thrombocytopenia, Long eyelashes, Highly arched eyebrow, Decreased hemoglobin concentration |
OMIM:619005 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Hydroureter, Long eyelashes, Ectopic kidney, ... |
OMIM:135900 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of thrombocytes, Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Ir... |
ORPHA:79430 |
| Overlap Myositis |
|
Leukopenia, Thrombocytopenia |
ORPHA:206572 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Pancreatic fibrosis, Micropenis |
OMIM:263520 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:90038 |
| Gaucher Disease, Perinatal Lethal |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly |
OMIM:608013 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| D-Bifunctional Protein Deficiency |
|
Renal cyst, Failure to thrive, Bile duct proliferation, Primary adrenal insufficiency |
OMIM:261515 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Maternal diabetes, Hypoplastic labia majora, Renal agenesis, Cryptor... |
OMIM:134780 |
| Tetrasomy 9P |
|
Pilomatrixoma, Absent gallbladder, Renal dysplasia, Recurrent urinary tract infections, Infertili... |
ORPHA:3310 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Anemia, Iris hypopigmentation, Ocular albinism |
ORPHA:2719 |
| Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
| 22Q11.2 Deletion Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Polycystic kidn... |
ORPHA:567 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia, Pigmentary retinopathy |
OMIM:277400 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Micropenis, Hydronephrosis |
OMIM:615287 |
| Branchiooculofacial Syndrome |
|
Ectopic thymus tissue, Premature graying of hair, Renal agenesis, Supernumerary nipple, Hypoplast... |
OMIM:113620 |
| Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Steinert Myotonic Dystrophy |
|
Decreased fertility, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation... |
ORPHA:273 |
| Joubert Syndrome 1 |
|
Renal cyst, Nephropathy, Highly arched eyebrow |
OMIM:213300 |
| Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Alopecia, Multicystic kidney dysplasia, Brittle hair, Proteinuria, Coarse hair,... |
ORPHA:2750 |
| Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Nephropathy, Abnormality of the hypothalamus-pituitary axis, Renal ... |
ORPHA:1454 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
| Lathosterolosis |
|
Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism, Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Decreased response to growth hormone stimulation test, Renal dysplasia |
OMIM:617260 |
| Ulbright-Hodes Syndrome |
|
Enlarged labia minora, Polycystic kidney dysplasia, Maternal diabetes, Cryptorchidism, Renal hypo... |
ORPHA:3404 |
| Ogden Syndrome |
|
Sparse eyebrow, Decreased testicular size, Enlarged kidney, Polycystic kidney dysplasia, Maternal... |
OMIM:300855 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A... |
OMIM:618280 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Multicystic kidney dysplasia |
ORPHA:261197 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Webbed neck, Small for gestational age, Failure to thrive, Hypospadias, Aplas... |
OMIM:194190 |
| Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Retinal pigment ep... |
OMIM:251260 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Ethylm... |
ORPHA:26791 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Renal insufficiency, Generalized edema |
OMIM:617478 |
| Peters Plus Syndrome |
|
Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Webbed neck, Anterior hypopituit... |
ORPHA:709 |
| Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Multiple renal cysts |
ORPHA:1190 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Horizontal eyebrow, Vesicoureteral reflux, Decreased body weight, Multicyst... |
ORPHA:2152 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Decreased body weight, Bilobate gallbladder, Webbed neck, Hypoplasia of the vagin... |
OMIM:261540 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia, Sparse hair |
OMIM:620005 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ... |
ORPHA:261537 |
| Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Pedal edema, Bifid ureter, Renal dysplasia, Renal malrotation, Renal cyst |
OMIM:617107 |
| Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Abnormalit... |
ORPHA:904 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Accessory spleen, Thrombocytopenia, Splenomegaly |
OMIM:300972 |
| Cranioectodermal Dysplasia 2 |
|
Sparse eyebrow, Renal cyst, Bile duct proliferation, Sparse eyelashes, Renal insufficiency, Spars... |
OMIM:613610 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly |
OMIM:251880 |
| Gaucher Disease Type 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
| Pearson Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Small for gestational age,... |
ORPHA:699 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyperplasia, R... |
ORPHA:447 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Enlarged kidney, Short nail, Supernumerary nipple, Pancreatic islet-cell hyperpla... |
OMIM:312870 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Vaginal stricture, Acute kidney injury, Dysuria, Vaginal dryness, Moderate albuminuria, Renal tub... |
ORPHA:95455 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Shigellosis |
|
Leukocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Splenic abscess |
ORPHA:810 |
| Pallister-Killian Syndrome |
|
Small scrotum, Sparse eyebrow, Alopecia, Sparse scalp hair, Webbed neck, Renal dysplasia, Labial ... |
OMIM:601803 |
| Alg12-Cdg |
|
Thrombocytopenia, Small nail, B lymphocytopenia, Low posterior hairline |
ORPHA:79324 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Hydronephrosis |
OMIM:236680 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Thrombocytopenia, Hirsutism, Alopecia |
ORPHA:2298 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Pancreatic fibrosis |
OMIM:200995 |
| Vici Syndrome |
|
Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Ocular albinism, Albinism, Lymphopen... |
OMIM:242840 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:36426 |
| Roberts-Sc Phocomelia Syndrome |
|
Bicornuate uterus, Enlarged labia minora, Polycystic kidney dysplasia, Long penis, Hypospadias, H... |
OMIM:268300 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Vesicoureteral reflux, Renal malrotation, Axial malrotation of the kidney, Apla... |
OMIM:274000 |
| Lujo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319213 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Alopecia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ... |
ORPHA:261552 |
| 15q26 overgrowth syndrome |
|
High anterior hairline, Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dyspl... |
DECIPHER:81 |
| Q Fever |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly |
ORPHA:781 |
| Joubert Syndrome 21 |
|
Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Thrombocytopenia, Increased circulating metamyelocyte count |
ORPHA:36234 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia |
ORPHA:88673 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Cholelithiasis, Weight loss |
ORPHA:53035 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Uterine rupture, Alopecia of scalp, Cystocele, Cryptorchidism, Uterine pr... |
OMIM:130050 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Aplasia/Hypoplasia of the nails, Anemia |
ORPHA:163979 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia, Pigmentary retinopathy |
ORPHA:79282 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Sparse eyebrow, Synophrys, Thrombocytopenia, Highly arched eyebrow, Increased mean platelet volume |
ORPHA:487796 |
| Deeah Syndrome |
|
Thrombocytopenia, Decreased hemoglobin concentration, Low posterior hairline |
OMIM:619004 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polyc... |
ORPHA:731 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Anonychia, Hy... |
OMIM:276820 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Thrombocytopenia |
ORPHA:2785 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Abnormality of the kidney, Vaginal dryness, Thyroiditis, Glomerulon... |
ORPHA:289390 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Lymphopenia, Decreased proportion of CD4-positive T ce... |
OMIM:619573 |
| Jacobsen Syndrome |
|
Thrombocytopenia, Abnormal eyelash morphology |
OMIM:147791 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Sparse axillary hair, Hypertrichosis, Hyperpigmentation of the skin, T... |
OMIM:256040 |
| Wilson Disease |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:277900 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
| Degcags Syndrome |
|
Leukopenia, Anemia, Abnormal eyebrow morphology, Hypopigmentation of the skin, Abnormality of ski... |
OMIM:619488 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytopenia, Thrombocytosis, Leukocytosis |
ORPHA:94093 |
| Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Multicystic kidney dysplasia, Webbed neck |
OMIM:300373 |
| Norrie Disease |
|
Uterine rupture, Cachexia, Erectile dysfunction, Failure to thrive, Delayed puberty, Diabetes mel... |
ORPHA:649 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of skin pigmentation, Irregular hyperpigmentation, Pyridoxine-res... |
ORPHA:84 |
| Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Leukocytosis |
ORPHA:297 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Neu-Laxova Syndrome 1 |
|
Absent eyelashes, Bifid uterus, Renal agenesis, Cryptorchidism |
OMIM:256520 |
| Caroli Syndrome |
|
Leukopenia, Thrombocytopenia, Hypersplenism, Leukocytosis |
ORPHA:480520 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
| Cerebrocostomandibular Syndrome |
|
Renal cyst, Webbed neck, Horseshoe kidney, Ectopic kidney |
OMIM:117650 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Thin skin, Aplasia/Hypoplasia of the eyebrow, Uterine rupture, Bladder diverticulum, Hy... |
ORPHA:286 |
| Brucellosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:1304 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Gaucher Disease |
|
Anemia, Abnormality of skin pigmentation, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:355 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:2072 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney, L... |
ORPHA:500095 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:340 |
| Loeys-Dietz Syndrome |
|
Thin skin, Uterine rupture |
ORPHA:60030 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Hemolytic anemia, Leukocytosis |
ORPHA:544482 |
| Sarcoidosis |
|
Leukopenia, Anemia, Alopecia, Hypopigmentation of the skin, Hemolytic anemia, Increased T cell co... |
ORPHA:797 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Webbed neck |
ORPHA:1393 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... |
ORPHA:79318 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Thrombocytopenia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Thrombocytopenia... |
ORPHA:99826 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia |
ORPHA:470 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... |
ORPHA:177907 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177901 |
| Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:398073 |
| Hardikar Syndrome |
|
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thrombocytopenia, Pigmentary retinopathy |
OMIM:301068 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Acute promyelocytic leukemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splen... |
ORPHA:77293 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Noonan Syndrome 1 |
|
Cafe-au-lait spot, Amegakaryocytic thrombocytopenia, Woolly hair, Juvenile myelomonocytic leukemi... |
OMIM:163950 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Dry hair, Lymphocytosis, Nail dystrophy, Thrombocytopenia, Splenomegaly |
OMIM:619991 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Neutrophilia, Pancytopenia, Leukocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:99827 |
| Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Yellow Fever |
|
Thrombocytopenia, Neutrophilia, Leukocytosis |
ORPHA:99829 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Splenomegaly, Retinal pigment epithelial mottling, Hypopigmentation... |
OMIM:219800 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Acute Liver Failure |
|
Thrombocytopenia |
ORPHA:90062 |
| Digeorge Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Anemia |
OMIM:188400 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
ORPHA:280651 |
| Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
| Craniofacial Microsomia |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Ureteropelvi... |
OMIM:164210 |
