| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
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 |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Hypospadias, Renal cyst, Obesity, Vaginal atresia, Diabetes mellitus |
OMIM:605231 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus |
ORPHA:3319 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity, Hypogonadism |
OMIM:615987 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... |
OMIM:617610 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Hydroureter, Obesity, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic ren... |
OMIM:615989 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea, Re... |
OMIM:191830 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Renal cyst, Renal agenesis, Obesity, Hypogonadism, Renal dysplasia, ... |
OMIM:615993 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Obesity, Hypogonadism, Crypto... |
OMIM:615982 |
| Renal, Genital, And Middle Ear Anomalies |
|
Renal hypoplasia/aplasia, Vaginal atresia |
OMIM:267400 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... |
OMIM:617914 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangiectasis, Hydro... |
ORPHA:1655 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t... |
OMIM:616258 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... |
OMIM:607624 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... |
ORPHA:2237 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair |
OMIM:269600 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Multiple cafe-au-lait spots, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Truncal obesity, Hirsutism, Abnormality of the ovary, Nephrogenic diab... |
OMIM:209900 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Thrombocytopenia, Monocytosis, Anemia, Neutropenia |
OMIM:620534 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Mckusick-Kaufman Syndrome |
|
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... |
OMIM:236700 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
| Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... |
ORPHA:261529 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Meacham Syndrome |
|
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... |
ORPHA:3097 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... |
ORPHA:247768 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:603860 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... |
OMIM:277000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
| Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... |
OMIM:300068 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie... |
ORPHA:1909 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... |
OMIM:194072 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| C Syndrome |
|
Renal cortical cysts, Failure to thrive, Clitoral hypertrophy, Cryptorchidism |
OMIM:211750 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Renal agenesis, Dysmenorrhea,... |
ORPHA:3411 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia |
OMIM:615285 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... |
ORPHA:189 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... |
OMIM:158330 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Nephropathy, Oligohydramnios, Multiple renal cysts, Renotub... |
ORPHA:3033 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... |
OMIM:614841 |
| Prune Belly Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of the bladder, Recur... |
ORPHA:2970 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal renal morphology, Fused labia minora, Vaginal atresia, Hypoplastic labia majora |
OMIM:207410 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... |
OMIM:617443 |
| Crandall Syndrome |
|
Brittle hair, Hypoplasia of penis, Abnormal testis morphology, Sparse body hair, Hypogonadism, Ap... |
ORPHA:202 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... |
OMIM:300835 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Ocular... |
OMIM:614171 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Oligohydramnios, Multicystic kidney dysplasia |
ORPHA:3316 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia |
ORPHA:3032 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... |
ORPHA:432 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Manitoba Oculotrichoanal Syndrome |
|
Abnormality of the hairline, Vaginal atresia |
OMIM:248450 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Clitoral hypertrophy, Hypospadias, Small nail, Polycystic kidney dysplasia, Hypoplastic nipples, ... |
OMIM:614866 |
| Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Absent pubic hair, Sec... |
OMIM:612964 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Aplasia of the vagina, Hypo... |
OMIM:146255 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... |
ORPHA:753 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Supernumerary nipple, Hypospadias, Renal cortical cysts, Failure to thrive, Hyperechogenic kidney... |
ORPHA:397715 |
| Trichohepatoenteric Syndrome 1 |
|
Trichorrhexis nodosa, Hypospadias, Galactosuria, Brittle hair, Woolly hair, Curly hair, Failure t... |
OMIM:222470 |
| Mosaic Trisomy 1 |
|
Small nail, Renal cortical cysts, Hypoplastic thumbnail, Renal cyst, Penile hypospadias, Micropenis |
ORPHA:1692 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Alopecia |
OMIM:301080 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Clitoral hypertrophy, Hypospadias, Adrenal hypoplasia, Failure to thrive, Renal cortical microcys... |
OMIM:214100 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis |
OMIM:613824 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral reflux, Nephrolit... |
OMIM:130650 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:300946 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Impaired platelet aggregation, Hypopigmentation of the skin, Abnormal n... |
OMIM:614072 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia |
OMIM:616435 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... |
OMIM:613390 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia, Hypertrichosis |
ORPHA:1063 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Gonadal dysgenesis, male |
OMIM:231060 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Small nail, Absent eyelashes, Bicorn... |
OMIM:219000 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, D... |
OMIM:263200 |
| Apert Syndrome |
|
Cryptorchidism, Hydronephrosis, Vaginal atresia |
OMIM:101200 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Lymphopenia |
OMIM:620365 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst |
OMIM:174050 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia |
OMIM:616576 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Decreased response to growth hormone stimulation test, Decreased serum insu... |
ORPHA:79323 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Chromosome 17Q12 Deletion Syndrome |
|
Nail dysplasia, Nail dystrophy, Aplasia of the vagina, Highly arched eyebrow, Small nail, Aplasia... |
OMIM:614527 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... |
ORPHA:456328 |
| Fraser Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuat... |
ORPHA:2052 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Hirsutism, Horseshoe kidney |
OMIM:619318 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Polyhydramnios, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... |
OMIM:619902 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Failure to thrive |
OMIM:609180 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
| Trisomy X |
|
Premature ovarian insufficiency, Renal hypoplasia/aplasia, Secondary amenorrhea, Precocious puber... |
ORPHA:3375 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha... |
ORPHA:3322 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:610539 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Vaginal atresia, Urethral atresia, Adrenal glan... |
OMIM:273395 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Hyperpigmentation of the skin, Thrombocytopenia, Leukopenia |
OMIM:619151 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... |
OMIM:194080 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal vagina morphology |
ORPHA:2123 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... |
ORPHA:2315 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Vaginal stricture, Nail dystrophy, Anonychia, Urethral stricture, Abnormality of the urinary system |
ORPHA:79409 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hydrometrocolpos, Nail dysplasia, Horseshoe kidney, Vaginal atresia |
OMIM:617088 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Nail dystrophy, Thrombocytopenia, Reticulated skin pigmentation, Pancytopenia |
OMIM:613987 |
| Specific Granule Deficiency 2 |
|
Nail dysplasia, Anemia, Hirsutism, Fragile nails, Thrombocytopenia, Absent neutrophil specific gr... |
OMIM:617475 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
| Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Iris hypopig... |
ORPHA:79477 |
| Griscelli Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... |
ORPHA:381 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... |
OMIM:615550 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Thrombocytopenia |
ORPHA:67048 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Small nail, Absent eyelashes, Renal cyst, Absent eyebrow, Cr... |
ORPHA:166035 |
| Abcd Syndrome |
|
White eyebrow, Polycythemia, Albinism, White eyelashes |
OMIM:600501 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytop... |
ORPHA:158029 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| Duplication Of Urethra |
|
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... |
ORPHA:237 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Interstitial Cystitis |
|
Abnormal labia morphology, Abnormal vagina morphology, Abnormality of the bladder, Pollakisuria, ... |
ORPHA:37202 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Tiger tail banding, Increased HbA2 hemoglobin, Decreased mean co... |
OMIM:616943 |
| Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... |
OMIM:606966 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... |
OMIM:235200 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Abnormal renal morphology, Atretic vas deferens, Decreased numbers of ... |
OMIM:137920 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... |
OMIM:601076 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Fail... |
ORPHA:2473 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease |
OMIM:617056 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis |
OMIM:615994 |
| Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:613885 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Renal dysplasia, Oli... |
OMIM:236500 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Absent platelet dense granules, Impaired ADP-induced platelet aggr... |
OMIM:614074 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Ridged nail, Increased mean c... |
OMIM:127550 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Trisomy 13 |
|
Abnormal eyelash morphology, Abnormality of the ureter, Hydronephrosis, Displacement of the ureth... |
ORPHA:3378 |
| Atelis Syndrome 1 |
|
Irregular hyperpigmentation, Anemia, Cafe-au-lait spot, Leukopenia, Thrombocytopenia |
OMIM:620184 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t... |
ORPHA:3109 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Bicornuate uterus, Frontotemporal hypertrichosis |
OMIM:263210 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:858 |
| Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... |
OMIM:256100 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Anemia, Hypochromia, Poikilocytosis, Anisocytosis, Ellip... |
OMIM:616959 |
| Silver-Russell Syndrome |
|
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, D... |
ORPHA:813 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f... |
OMIM:613989 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:263400 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... |
ORPHA:33445 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemo... |
OMIM:304790 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Premature graying of hair, Aplastic anemia, Pancytopenia, Leukemia, Myeloid leukemia |
OMIM:614743 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
| Chronic Mucocutaneous Candidiasis |
|
Hematuria, Abnormal vagina morphology, Abnormality of the nail, Recurrent urinary tract infection... |
ORPHA:1334 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Sparse ha... |
OMIM:614091 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal lo... |
ORPHA:1988 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... |
OMIM:153670 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Chand Syndrome |
|
Hydroureter, Imperforate hymen, Nail dysplasia, Curly hair |
ORPHA:1401 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Genitopatellar Syndrome |
|
Clitoral hypertrophy, Sparse scalp hair, Hydronephrosis, Small scrotum, Fine hair, Cryptorchidism... |
ORPHA:85201 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Nail dysplasia, Ureterocele, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decrea... |
OMIM:129900 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Small nail, Vesicoureteral reflux,... |
OMIM:140000 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Melanonychia, Multi... |
ORPHA:2869 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... |
ORPHA:1834 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... |
ORPHA:1475 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Transverse vaginal septum, ... |
OMIM:604292 |
| Camptobrachydactyly |
|
Septate vagina, Abnormal fingernail morphology, Hypoplastic toenails |
ORPHA:1319 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Harrod Syndrome |
|
Failure to thrive, Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Ovarian cyst, Weight loss, Hepatic cysts, Membranous ... |
ORPHA:400 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
| Bone Marrow Failure Syndrome 5 |
|
Nail dystrophy, Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Alopecia universalis, Alopecia |
OMIM:600705 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Polyhydramnios, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death,... |
OMIM:614922 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
OMIM:152700 |
| Chediak-Higashi Syndrome |
|
Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati... |
OMIM:214500 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... |
ORPHA:2973 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia |
ORPHA:27 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... |
ORPHA:824 |
| Vacterl/Vater Association |
|
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hydronephrosis, ... |
ORPHA:887 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia |
OMIM:610333 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Neutropenia, Anemia, ... |
OMIM:613990 |
| Babesiosis |
|
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Trisomy 17P |
|
High anterior hairline, Broad eyebrow, Hypoplasia of penis, Polycystic kidney dysplasia, Low post... |
ORPHA:261290 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Nail dystrophy, Small nail, Hyperpigmentation of the skin, Pancytopenia, Sparse ... |
OMIM:224230 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Leishmaniasis |
|
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia |
ORPHA:507 |
| Trisomy 20P |
|
Abnormality of the kidney, Hypospadias, Thick hair, Highly arched eyebrow, Low posterior hairline... |
ORPHA:261318 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Nail dysplasia, Bifid scrotum, Low posterior hairline... |
ORPHA:1772 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Camptobrachydactyly |
|
Septate vagina, Urinary incontinence |
OMIM:114150 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| 17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus... |
ORPHA:261265 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst |
OMIM:617100 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Isolated Agammaglobulinemia |
|
Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:277580 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count |
OMIM:616050 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Renal insufficiency, Highly arched eyebro... |
ORPHA:261494 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... |
ORPHA:2075 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... |
ORPHA:325345 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Trisomy 1Q |
|
Congenital megaureter, Hydronephrosis, Aplasia/Hypoplasia of the nails, Hypoplastic toenails, Sma... |
ORPHA:261344 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Lymphedema, Pancreatic cysts |
OMIM:211890 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Pancytopenia |
OMIM:243500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:100026 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... |
OMIM:300707 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Abnormal exter... |
ORPHA:314588 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
| Blue Rubber Bleb Nevus |
|
Hypermelanotic macule, Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Acute kidney injury, Glomerulopathy, Aplasia/Hypoplasia of the pancreas, Hyp... |
ORPHA:93111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Long eyelashes, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anem... |
OMIM:301110 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Wolfram Syndrome 1 |
|
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... |
OMIM:222300 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Abnormal vagina morphology, Synophrys, White... |
ORPHA:3440 |
| Hermansky-Pudlak Syndrome 11 |
|
Iris transillumination defect, Reduced platelet dense granules, Impaired collagen-induced platele... |
OMIM:619172 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Lumbar Syndrome |
|
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio... |
ORPHA:83628 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... |
OMIM:607823 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia |
OMIM:150550 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
| Immunodeficiency 114, Folate-Responsive |
|
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:620603 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Long eyelashes, Decreased testicular size, Failure to thrive, Sparse eyebro... |
ORPHA:261349 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Decreased serum testosterone concentration, Failure to... |
OMIM:305400 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... |
ORPHA:158057 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Clitoral hypertrophy, Polycystic kidney dysplasia, Hypoplasia of the thymus, Failure to thrive, C... |
OMIM:214110 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Premature graying of hair, Nail dystrophy, Pancytopenia, Reticular hyperpigmentation, Lymphopenia... |
OMIM:619767 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absence of labia majora, Hypospadias, Broad eyebrow, Hypoplastic labia minora, Hirsutism, Absent ... |
ORPHA:495875 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, W... |
ORPHA:99776 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... |
ORPHA:3464 |
| Prolidase Deficiency |
|
Anemia, Facial hirsutism, Low posterior hairline, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
| Zellweger Syndrome |
|
Clitoral hypertrophy, Hypospadias, Failure to thrive, Primary adrenal insufficiency, Hydronephros... |
ORPHA:912 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... |
OMIM:610188 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... |
OMIM:181450 |
| Bardet-Biedl Syndrome |
|
Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:110 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... |
OMIM:308240 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Splenomegaly |
ORPHA:290 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Hereditary Methemoglobinemia |
|
Abnormality of the nail, Methemoglobinemia |
ORPHA:621 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Hypospadias, Curly eyelashes, Highly arched eyebrow, Abnormal renal morphology, H... |
OMIM:122470 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... |
OMIM:154230 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Nephroblastoma, Ambiguous g... |
OMIM:257300 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... |
ORPHA:322 |
| Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
| Papillorenal Syndrome |
|
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... |
OMIM:120330 |
| Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly, Thick hair |
ORPHA:263501 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypoplastic toenails, Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Hemato... |
OMIM:619522 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Gaucher Disease, Type I |
|
Anemia, Pancytopenia, Hyperpigmentation of the skin, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
| Parathyroid Carcinoma |
|
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicu... |
ORPHA:143 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nail dystrophy, Vaginal dryness, Hypospadias, Supernumerary nipple, Absent eyelashes, Patchy alop... |
OMIM:106260 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Anemia, Alopecia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Tuberous Sclerosis 1 |
|
Adenoma sebaceum, Preauricular hair displacement, Subungual fibromas, Renal cell carcinoma, Renal... |
OMIM:191100 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia, Small nail |
OMIM:614520 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Absent ... |
OMIM:612284 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Joubert Syndrome 35 |
|
Highly arched eyebrow, Recurrent urinary tract infections, Renal fibrosis, Synophrys, Hydronephro... |
OMIM:618161 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
ORPHA:79242 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Neutropenia, Reduced natural killer cell count, Generalized hypop... |
OMIM:608233 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... |
OMIM:174000 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair, Lymphopenia |
ORPHA:100 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Sparse hair, Curly hair |
OMIM:619980 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:3437 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Hirsutism, Renal cyst, Long eyelashes, Synophrys, Failu... |
OMIM:102500 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Nail dysplasia, Small nail, Highly arched eyebrow, Vesicoureteral reflux, Renal cyst, Microphallu... |
OMIM:618454 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... |
ORPHA:98850 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
ORPHA:398124 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Enlarged kidney, Hepatic cysts, Oligohydramnios, Cystic renal dysplasia |
OMIM:615415 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... |
OMIM:613095 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... |
OMIM:169400 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... |
OMIM:613159 |
| Fryns Syndrome |
|
Large for gestational age, Ureteral duplication, Hypospadias, Facial hirsutism, Small nail, Bifid... |
OMIM:229850 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Broad eyebrow, Synophrys, Horizontal eyebrow, Increased mean platelet volu... |
OMIM:620475 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst |
OMIM:614815 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
ORPHA:480536 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neoplasm, Hypercalc... |
ORPHA:99880 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... |
ORPHA:465508 |
| Kasabach-Merritt Phenomenon |
|
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertr... |
ORPHA:2330 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... |
OMIM:301078 |
| Pallister-Hall Syndrome |
|
Nail dysplasia, Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidne... |
OMIM:146510 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... |
ORPHA:991 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism... |
OMIM:212065 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259710 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Failure to thrive, Renal insuf... |
OMIM:608091 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... |
ORPHA:464306 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Nail dystrophy, Neutropenia, Acute myeloid leukemia, Anemia, Small nail, Pancyto... |
OMIM:617052 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... |
ORPHA:3226 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Tularemia |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:3392 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Hy... |
OMIM:615866 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
OMIM:258040 |
| Currarino Syndrome |
|
Urinary incontinence, Rectovaginal fistula, Recurrent urinary tract infections, Neurogenic bladde... |
OMIM:176450 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Felty Syndrome |
|
Irregular hyperpigmentation, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:47612 |
| Fryns Syndrome |
|
Hypoplastic fingernail, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cr... |
ORPHA:2059 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Abnormal hair whorl, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... |
ORPHA:107 |
| Transaldolase Deficiency |
|
Anemia, Pancytopenia, Synophrys, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia |
OMIM:606003 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia, Sparse eyebrow, Ambiguous genitalia, Cryptorchidism |
OMIM:616300 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:85212 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Erythroid hypoplasia, Synophrys, Horizontal eyebrow, Thrombocytopenia, Coarse hair, Widow... |
OMIM:620072 |
| Relapsing Fever |
|
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
| Fetal Cytomegalovirus Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:294 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:98791 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Sparse pubic hair, Female infertility, Am... |
OMIM:110100 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Cafe-au-lait spot, Thromb... |
OMIM:600901 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, Nephrolithiasis |
OMIM:300322 |
| Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Failure to thrive in infancy, Sparse eyebrow, Multicystic kidney dysplasia |
OMIM:618829 |
| Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytopenia, Lymphopenia, Granu... |
ORPHA:454831 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Anemia, Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Low anterior hairline, Leuk... |
OMIM:617303 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Failure to thrive, Hydronephro... |
ORPHA:464311 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Thrombocytopenia, Leukopenia, Anemia, Pancytopenia |
OMIM:613845 |
| Mody |
|
Abnormality of the kidney, Large for gestational age, Pancreatic hypoplasia, Hypoinsulinemia, Ren... |
ORPHA:552 |
| Smith-Kingsmore Syndrome |
|
Cafe-au-lait spot, Thrombocytopenia, Curly hair |
OMIM:616638 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
| Porphyria, Congenital Erythropoietic |
|
Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent eyebrow, T... |
OMIM:263700 |
| Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:90060 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Hypermelanotic macule, Anemia, Pancytopenia, Thrombocytopenia, Lympho... |
OMIM:242900 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia |
OMIM:618048 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Meacham Syndrome |
|
Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Hor... |
OMIM:608978 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Highly arched eyebrow, Clitoral hypoplasia, Sparse... |
OMIM:618419 |
| Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Small for gestational age, Renal cyst |
OMIM:615583 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia |
ORPHA:2241 |
| Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:606054 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia |
ORPHA:903 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Campomelia, Cumming Type |
|
Hydrops fetalis, Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Multiple renal cysts... |
ORPHA:1318 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis |
OMIM:274150 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... |
OMIM:271520 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Aplasia of the vagina, Synophrys, White forelock, Thick eyebrow, White... |
OMIM:193500 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Reticulocytopenia, Cafe-au-lait spot, Abnormality of skin pigmentation, Thr... |
OMIM:227650 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Recon Progeroid Syndrome |
|
Anemia, Hyperconvex thumb nails, Hirsutism, Thrombocytopenia, Absent lower eyelashes |
OMIM:620370 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Lig4 Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Low anterior hairline, Pancytopenia |
OMIM:606593 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia |
OMIM:617466 |
| 2Q37 Microdeletion Syndrome |
|
Supernumerary nipple, Highly arched eyebrow, Sparse scalp hair, Sparse eyebrow, Obesity, Nephrobl... |
ORPHA:1001 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Splenomegaly, Hypopigmentation of hair |
OMIM:618541 |
| Distal Deletion 12Q |
|
Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidney, Small nail, Polycystic ki... |
ORPHA:96149 |
| Robinow Syndrome |
|
Nail dysplasia, High anterior hairline, External genital hypoplasia, Multicystic kidney dysplasia... |
ORPHA:97360 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic fingernail, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Low an... |
OMIM:220500 |
| Macrophage Activation Syndrome |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... |
ORPHA:158061 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis |
OMIM:619644 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Webbed neck, Low posterior hairline, Sparse eyebrow, Bifid uterus, Abnormal... |
ORPHA:1521 |
| Acute Promyelocytic Leukemia |
|
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Limb-Mammary Syndrome |
|
Nail dysplasia, Breast aplasia, Alopecia, Aplasia of the uterus, Hypoplastic nipples, Absent nipp... |
ORPHA:69085 |
| Penile Agenesis |
|
Hydroureter, Maternal diabetes, Abnormality of the bladder, Bilateral renal agenesis, Absent peni... |
ORPHA:49 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis |
OMIM:235400 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Small nail, Renal cyst, Sparse eyelashes, Sparse eyebrow, Sparse hair, Ho... |
OMIM:250410 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Absent nipple, Abnormalit... |
OMIM:200980 |
| Tafro Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:457077 |
| Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... |
OMIM:613550 |
| 1P36 Deletion Syndrome |
|
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... |
ORPHA:1606 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Papillary cystadenoma of the ep... |
OMIM:193300 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Edema, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... |
OMIM:216360 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia |
OMIM:619879 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... |
OMIM:614700 |
| Tuberous Sclerosis 2 |
|
Adenoma sebaceum, Subungual fibromas, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypot... |
OMIM:613254 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Ane... |
ORPHA:1775 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:292 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
OMIM:253270 |
| Hepatoportal Sclerosis |
|
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypersplenism |
ORPHA:64743 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Broad eyebrow, Small nail, Vesicoureteral reflux, Renal cyst, Cryp... |
OMIM:616975 |
| Cornelia De Lange Syndrome |
|
Delayed puberty, Hypoplasia of penis, Highly arched eyebrow, Low posterior hairline, Hypospadias,... |
ORPHA:199 |
| Noonan Syndrome 4 |
|
High anterior hairline, Curly hair, Sparse eyebrow, Thrombocytopenia, Blue irides |
OMIM:610733 |
| X-Linked Intellectual Disability, Snyder Type |
|
Ectopic kidney, Hypospadias, Webbed neck, Abnormality of the Leydig cells, Synophrys, Sparse eyeb... |
ORPHA:3063 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia, Pancreatic cysts, Neonatal dea... |
OMIM:208540 |
| Adams-Oliver Syndrome |
|
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Leukopenia, Thrombocytop... |
ORPHA:974 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low posterior hairline, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis |
OMIM:617925 |
| Smith-Lemli-Opitz Syndrome |
|
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Bi... |
OMIM:270400 |
| Popliteal Pterygium Syndrome |
|
Pyramidal skinfold extending from the base to the top of the nails, Bifid scrotum, Hypoplasia of ... |
OMIM:119500 |
| Boutonneuse Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:83313 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Abnormal natural killer cell mo... |
ORPHA:167 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Nail dysplasia, Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Sparse hair,... |
OMIM:612199 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hyperpigmentation of the skin, Decreased mean corpuscular hemoglob... |
ORPHA:231226 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Obesit... |
ORPHA:369837 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... |
ORPHA:227 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc... |
OMIM:615398 |
| C Syndrome |
|
Renal hypoplasia/aplasia, Female pseudohermaphroditism, Abnormal hair pattern, Failure to thrive ... |
ORPHA:1308 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:2461 |
| Zika Virus Disease |
|
Thrombocytopenia, Retinal pigment epithelial mottling |
ORPHA:448237 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Alopecia |
ORPHA:93552 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Rectovaginal fistula, Perineal fistula, Renal agenesis, Failure to thri... |
ORPHA:2538 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:169090 |
| Townes-Brocks Syndrome |
|
Delayed puberty, Abnormality of the kidney, Hypospadias, Rectovaginal fistula, Hypoplasia of peni... |
ORPHA:857 |
| Cholesteryl Ester Storage Disease |
|
Anemia, Bone-marrow foam cells, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, H... |
OMIM:278000 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Decreased mean... |
ORPHA:231214 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Anemia, Lymphopenia |
ORPHA:935 |
| Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Dysuria, Weight loss, Renal insufficiency, Abnormality of the urethra |
ORPHA:537 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... |
ORPHA:18 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Cafe-au-lait spot, Thromb... |
OMIM:227645 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Sparse hair, Hepatic cysts, Pancreatic cy... |
OMIM:311200 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:905 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Frontal upsweep of hair, Ureteral duplication, Nephronophthisis, Renal dyspl... |
OMIM:266920 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Nail dystrophy, Hydroureter, Paronychia, Duplicated collecting... |
ORPHA:79404 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Sparse hair, Cryptorchidism |
ORPHA:3103 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia |
OMIM:259700 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Hypoplastic fingernail, Webbed neck, Nephroblastomatosis, Nephrogenic rest, Hors... |
OMIM:608022 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis |
OMIM:613091 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Hydrops fetalis, Ascites, Polycystic kidney dysplasia |
OMIM:608776 |
| Dengue Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Abnormality of t... |
OMIM:243800 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Hematuria, Abnormal morphology of female internal genitalia, Multiple renal cysts... |
ORPHA:538 |
| Mogs-Cdg |
|
Hirsutism, Long eyelashes, Hepatosplenomegaly, Thrombocytopenia, Fair hair, Alopecia |
ORPHA:79330 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... |
ORPHA:534 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia |
OMIM:615758 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... |
ORPHA:79124 |
| Pallister-Hall Syndrome |
|
Nail dysplasia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency,... |
ORPHA:672 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Increased mean corpuscular volume, Abnormal hair pattern |
ORPHA:261250 |
| Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Uterine leiomyoma, Multiple renal cysts |
ORPHA:220460 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:508542 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Tubular luminal dilatation, Hyperechogenic kidneys, Renal insufficiency, Renal co... |
OMIM:219730 |
| Schimke Immuno-Osseous Dysplasia |
|
Multiple lentigines, Hypermelanotic macule, Anemia, Abnormal proportion of naive CD4 T cells, Dec... |
ORPHA:1830 |
| Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Multicystic kidney dysplasia, Small na... |
ORPHA:1596 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplastic female external genitalia, Hypoplasia of penis, Long eyelashes, Hydronephrosis, Finge... |
ORPHA:1507 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Hyperpigmentation of the skin, Cafe-au-lait spot, Thrombocytopenia, Leukopenia |
OMIM:603467 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchi... |
OMIM:601186 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Renal cyst, Hypothyroidism, Nephrocalcinosis, Renal insufficiency |
ORPHA:445038 |
| Transketolase Deficiency |
|
Secondary amenorrhea, Type I diabetes mellitus, Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Hypospadias, Generalized hypertrichosis, Nephrolithiasis, Renal cyst, Abnormali... |
ORPHA:798 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Fair hair |
OMIM:614613 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Hirsutism, Leukopenia, Small nail |
OMIM:301056 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... |
ORPHA:158048 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:267700 |
| Branchiootorenal Syndrome 1 |
|
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... |
OMIM:113650 |
| Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto... |
OMIM:603553 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia |
ORPHA:2686 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Broad eyebrow, Thrombocytopenia, Sacral hypertrichosis |
ORPHA:457351 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:251000 |
| Floating-Harbor Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Precocious puberty, Varicocele, Dilatation ... |
ORPHA:2044 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Simpson-Golabi-Behmel Syndrome |
|
Nail dysplasia, Ureteral duplication, Hydroureter, Hypospadias, Supernumerary nipple, Hypoplasia ... |
ORPHA:373 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:540 |
| Joubert Syndrome 14 |
|
Highly arched eyebrow, Renal cyst |
OMIM:614424 |
| Branchio-Oculo-Facial Syndrome |
|
Premature graying of hair, Renal agenesis, Hydronephrosis, Fingernail dysplasia, Multicystic kidn... |
ORPHA:1297 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Periorbital hyperpigmentation, Anemia, Small nail, Hypoplastic nipples, Thrombocy... |
ORPHA:261323 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Nail dystrophy, Anemia, Acute myeloid leukemia, Ridged nail, Hyperpigm... |
OMIM:305000 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Polycystic kidney dysplasia, Uncomb... |
ORPHA:84064 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Thrombocytopenia, Coarse hair |
OMIM:612394 |
| Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation |
OMIM:603194 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Webbed neck, Aplasia of the uterus, Renal hypoplasia, Micropenis |
OMIM:614083 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, male, External genital hypoplasia, Cystic renal dysplasia, Webbed neck, Poly... |
OMIM:249000 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly... |
OMIM:610377 |
| Tangier Disease |
|
Thrombocytopenia, Nail dystrophy, Hepatosplenomegaly, Anemia |
ORPHA:31150 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Polycystic ovaries, Renal cyst |
ORPHA:137675 |
| Congenital Erythropoietic Porphyria |
|
Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Hypopigmentation of... |
ORPHA:79277 |
| Khan-Khan-Katsanis Syndrome |
|
Trichiasis, Ureteral duplication, Highly arched eyebrow, Vesicoureteral reflux, Renal cyst, Renal... |
OMIM:618460 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adren... |
ORPHA:892 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:614576 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczematoid dermatitis |
OMIM:619774 |
| Fliedner-Zweier Syndrome |
|
Obesity, Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:620511 |
| Hajdu-Cheney Syndrome |
|
Delayed puberty, Hypospadias, Synophrys, Failure to thrive, Abnormal fingernail morphology, Gener... |
ORPHA:955 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Dark urine, Renal cyst |
ORPHA:79303 |
| Lysinuric Protein Intolerance |
|
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Sparse hair, Thrombocytopenia, Fine hair |
OMIM:222700 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Hypoplastic nipples, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation |
OMIM:611134 |
| Mirage Syndrome |
|
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:617053 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... |
OMIM:557000 |
| Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Multicystic kidney dysplasia, Oligohydramnios, Stage 5 chronic kidney ... |
OMIM:267010 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Polycystic kidney dysplasia, Sparse scalp hair, Renal cyst, Sparse eyelashes, Renal hypoplasia, S... |
OMIM:210710 |
| Microphthalmia, Syndromic 2 |
|
Hypospadias, Decreased body weight, Hypothyroidism, Thick eyebrow, Laterally curved eyebrow, Sept... |
OMIM:300166 |
| Smith-Lemli-Opitz Syndrome |
|
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hypopigmentation of hair, Hypoplasia... |
ORPHA:818 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... |
ORPHA:93271 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... |
OMIM:107480 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... |
OMIM:203300 |
| Radio-Renal Syndrome |
|
Renal hypoplasia/aplasia, Chylothorax, Pleural effusion, Renal agenesis, Renal dysplasia, Multicy... |
ORPHA:3015 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal female external genitalia morphology, Renal hypoplasia/aplasia, Vaginal fistula, Persist... |
ORPHA:1112 |
| Jacobsen Syndrome |
|
Annular pancreas, Webbed neck, Hydronephrosis, Aplasia/Hypoplasia of the eyebrow, Cryptorchidism,... |
ORPHA:2308 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Meckel Syndrome |
|
Ureteral duplication, Pancreatic cysts, Pancreatic fibrosis, Male pseudohermaphroditism, True her... |
ORPHA:564 |
| Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Lymphopenia |
ORPHA:319218 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Gaucher Disease Type 1 |
|
Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Hepatospleno... |
ORPHA:77259 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Enlarged kidney, Pancreatic cysts, Multiple renal cysts |
ORPHA:464329 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, Hepatosplenomeg... |
OMIM:612541 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Phocomelia, Schinzel Type |
|
Nail dysplasia, Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Chronic Graft Versus Host Disease |
|
Nail dystrophy, Hematuria, Abnormal vagina morphology, Phimosis, Onycholysis, Weight loss, Urinar... |
ORPHA:99921 |
| Genitopatellar Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Spa... |
OMIM:606170 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
OMIM:308230 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Unilateral renal agenesis, Hypospadias, A... |
OMIM:308205 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Abnormal hair morphology, Abnormal hair quantity, Lo... |
ORPHA:647 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Hypothyroidism, Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia |
ORPHA:1052 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... |
ORPHA:157 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair |
ORPHA:53271 |
| Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Synophrys, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia |
OMIM:616737 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomega... |
OMIM:259720 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Trisomy 10P |
|
Abnormality of the kidney, Rectovaginal fistula, Multiple renal cysts, Absent gallbladder, Small ... |
ORPHA:171929 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... |
OMIM:608836 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Avian Influenza |
|
Thrombocytopenia, Leukopenia, Lymphopenia |
ORPHA:454836 |
| Dubowitz Syndrome |
|
Anemia, Sparse scalp hair, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abnormal fin... |
ORPHA:235 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
| Alveolar Echinococcosis |
|
Abnormal adrenal morphology, Abnormal bladder morphology, Renal cyst, Weight loss, Hepatic cysts,... |
ORPHA:284 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Focal Dermal Hypoplasia |
|
Renal hypoplasia/aplasia, Abnormality of the nail, Thin skin, Hydronephrosis, Multicystic kidney ... |
ORPHA:2092 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Toenail dysplasia, Polycystic kidney dysplasia, Vesicoureteral reflux,... |
OMIM:606232 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Polycystic kidney dysplasia, Panc... |
OMIM:610199 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Beckwith-Wiedemann Syndrome |
|
Large for gestational age, Enlarged kidney, Ureteral duplication, Abnormal pancreas morphology, C... |
ORPHA:116 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Castleman Disease |
|
Thrombocytopenia, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
| Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Pancreatic endocrine tumor, Polycystic kidney dysplasia, Pheochromocyt... |
ORPHA:805 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... |
OMIM:618280 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Thick hair, Long eyelashes, Abnormality of retinal pigmentation, Leukopenia, Hepatospleno... |
ORPHA:505248 |
| Okamoto Syndrome |
|
Urinary incontinence, Webbed neck, Extension of hair growth on temples to lateral eyebrow, Ureter... |
ORPHA:2729 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Pancytopenia, Reticulocytopenia, Cafe-au-lait spot, Abnormality of skin pigmentation, Thr... |
OMIM:227646 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Anemia, Pancytopenia, Sparse eyebrow, Leukopenia, Thrombocytopenia, Lymphopenia |
OMIM:620654 |
| Senior-Boichis Syndrome |
|
Tubular luminal dilatation, Chronic kidney disease, Ascites, Renal hypoplasia, Hyperechogenic kid... |
ORPHA:84081 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Decreased hemoglobin concentration, Thrombocytopenia, Long eyelashes |
OMIM:619005 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hydrometrocolpos, Alopecia of scalp, Vesicoureteral reflux, Sparse scalp hair, Bilateral cryptorc... |
OMIM:150230 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopig... |
ORPHA:79430 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Pilomatrixoma, Infertility, Oligozoospermia, Hydronephrosis, ... |
ORPHA:3310 |
| Coffin-Siris Syndrome 1 |
|
Lumbosacral hirsutism, Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of... |
OMIM:135900 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Renal cyst, Bile duct proliferation, Nephritis, Proteinuria, Chronic kidney dis... |
OMIM:208500 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Sepsis In Premature Infants |
|
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:90051 |
| Joubert Syndrome 1 |
|
Highly arched eyebrow, Nephropathy, Renal cyst |
OMIM:213300 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:600740 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| D-Bifunctional Protein Deficiency |
|
Failure to thrive, Primary adrenal insufficiency, Renal cyst, Bile duct proliferation |
OMIM:261515 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Proteus Syndrome |
|
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Abnormali... |
ORPHA:744 |
| Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow, Abnormality of the hypo... |
ORPHA:1454 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Anemia, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... |
ORPHA:228308 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... |
ORPHA:274 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cholelithiasis, Polycystic kidney dysplasia, Vesicoureteral refl... |
ORPHA:567 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis |
ORPHA:90038 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
| Neuroblastoma |
|
Thrombocytopenia, Anemia |
ORPHA:635 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Multicystic kidney dysplasia |
ORPHA:261197 |
| Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Peters Plus Syndrome |
|
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Anteri... |
ORPHA:709 |
| Overlap Myositis |
|
Thrombocytopenia, Leukopenia |
ORPHA:206572 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
| Branchiooculofacial Syndrome |
|
Premature graying of hair, Hypoplastic fingernail, Hypospadias, Renal cyst, Low posterior hairlin... |
OMIM:113620 |
| Ogden Syndrome |
|
Enlarged kidney, Maternal diabetes, Polycystic kidney dysplasia, Long eyelashes, Decreased testic... |
OMIM:300855 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Brittle hair, Hydronephrosis, Proteinuria, Spa... |
ORPHA:2750 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p... |
ORPHA:273 |
| Arima Syndrome |
|
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... |
OMIM:243910 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism, Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Down Syndrome |
|
Acute megakaryocytic leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Sparse hair, Leukemia |
ORPHA:870 |
| Ulbright-Hodes Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Polycystic kidney dysplasia, Abno... |
ORPHA:3404 |
| Lathosterolosis |
|
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology |
ORPHA:46059 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:616546 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Multiple renal cysts |
ORPHA:1190 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... |
ORPHA:26791 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Hydronephrosis, Micropenis, Multicystic kidney dysplasia |
OMIM:615287 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad... |
ORPHA:2152 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Cafe-au-lait spot, Progressive... |
OMIM:251260 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Webbed neck, Hyperconvex fingernails, Highly arched eyebrow, Aplasia of the uterus, ... |
OMIM:194190 |
| Farber Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:333 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
| Williams Syndrome |
|
Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Abnormal tubulointerstitial morpholo... |
ORPHA:904 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Webbed neck, Labial hypoplasia, Alopecia, Sparse anteri... |
OMIM:601803 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Generalized edema, Renal insufficiency, Renal cyst |
OMIM:617478 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Ureteral duplication, Hypospadias, Webbed neck, Decreased body weight, Clit... |
OMIM:261540 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad eyebrow, Pelvic kidney, Ve... |
ORPHA:261537 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma, Pedal edema |
OMIM:617107 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Sparse hair, Lymphopenia |
OMIM:620005 |
| Cranioectodermal Dysplasia 2 |
|
Renal cyst, Bile duct proliferation, Sparse eyelashes, Sparse eyebrow, Sparse hair, Renal insuffi... |
OMIM:613610 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Vaginal stricture, Renal tubular epithelial necrosis, Vaginal dryness, Hemat... |
ORPHA:95455 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
| Gaisböck Syndrome |
|
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Renal cyst, Hypothyroi... |
ORPHA:699 |
| Congenital Syphilis |
|
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
ORPHA:499009 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis |
OMIM:236680 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hypospadias, Renal cyst, Short nail, Hydronephrosis, Nephroblastoma, Duplication... |
OMIM:312870 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:300972 |
| Gaucher Disease Type 3 |
|
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu... |
ORPHA:447 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Abnormality of neutrophils, Anemia |
ORPHA:36426 |
| Shigellosis |
|
Splenic abscess, Thrombocytopenia, Leukocytosis, Microangiopathic hemolytic anemia |
ORPHA:810 |
| Alg12-Cdg |
|
B lymphocytopenia, Thrombocytopenia, Low posterior hairline, Small nail |
ORPHA:79324 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Duplication of renal pelvis, Multicystic kidney dysplasia, Bro... |
ORPHA:261552 |
| Vici Syndrome |
|
Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, T lymphocytopenia, Decreased... |
OMIM:242840 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Weight loss, Cholelithiasis |
ORPHA:53035 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Maternal diabetes, Polycystic kidney dysplasia, Rena... |
OMIM:134780 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Pancreatic fibrosis, Cystic renal dysplasia |
OMIM:200995 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Neutropenia |
OMIM:277400 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Insulin-Resistance Syndrome Type B |
|
Thrombocytopenia, Hirsutism, Leukopenia, Alopecia |
ORPHA:2298 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Polycystic kidney dysplasia... |
OMIM:268300 |
| Lujo Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Leukocytosis, Lymphopenia |
ORPHA:319213 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, High anterior hairline, Polycystic kidney dysplasia, Vesicoureteral re... |
DECIPHER:81 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly |
OMIM:251880 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Renal malrotation, Ureteral duplication, Aplasia of the uterus, Vesicoureteral reflux, Axial malr... |
OMIM:274000 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Q Fever |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
ORPHA:781 |
| Kikuchi-Fujimoto Disease |
|
Anemia, Lymphocytosis, Alopecia, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia |
ORPHA:50918 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia, Alopecia |
ORPHA:536 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Bacterial Toxic-Shock Syndrome |
|
Thrombocytopenia, Increased circulating metamyelocyte count, Increased circulating myelocyte count |
ORPHA:36234 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Alopecia of scalp, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine r... |
OMIM:130050 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline |
OMIM:619004 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Synophrys, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia |
ORPHA:487796 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
| Primary Sjögren Syndrome |
|
Abnormality of the kidney, Vaginal dryness, Thyroiditis, Parotitis, Renal insufficiency, Tubuloin... |
ORPHA:289390 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Aplasia/Hypoplasia of the nails, Anemia |
ORPHA:163979 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia, Recurrent... |
ORPHA:731 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615846 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Neutropenia |
ORPHA:79282 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Anonychi... |
OMIM:276820 |
| Degcags Syndrome |
|
Premature graying of hair, Anemia, Iron deficiency anemia, Hypopigmentation of hair, Pancytopenia... |
OMIM:619488 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ... |
OMIM:619573 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Hyperpigmentation of the skin, Thrombocytopenia, Splenomegaly, Sparse ... |
OMIM:256040 |
| Norrie Disease |
|
Delayed puberty, Erectile dysfunction, Uterine rupture, Cachexia, Cryptorchidism, Failure to thri... |
ORPHA:649 |
| Jacobsen Syndrome |
|
Abnormal eyelash morphology, Thrombocytopenia |
OMIM:147791 |
| Neu-Laxova Syndrome 1 |
|
Renal agenesis, Absent eyelashes, Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Multicystic kidney dysplasia, Webbed neck |
OMIM:300373 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia |
OMIM:620423 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Anemia, Pancytopenia, Elliptocytosis, Thrombocytopenia, Leukopenia |
ORPHA:2785 |
| Fanconi Anemia |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Anemia, Multiple cafe-au-lait spots, Abn... |
ORPHA:84 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... |
OMIM:118450 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom... |
OMIM:620376 |
| Caroli Syndrome |
|
Hypersplenism, Thrombocytopenia, Leukopenia, Leukocytosis |
ORPHA:480520 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Horseshoe kidney, Ectopic kidney, Renal cyst |
OMIM:117650 |
| Tick-Borne Encephalitis |
|
Thrombocytopenia, Leukopenia, Leukocytosis |
ORPHA:297 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Abnormal eyelash morphology, Abnormality of hair texture, Uterine p... |
ORPHA:286 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Alkaptonuria |
|
Irregular hyperpigmentation, Abnormality of the nail, Abnormality of skin pigmentation, Hemolytic... |
ORPHA:56 |
| Gaucher Disease |
|
Anemia, Pancytopenia, Splenic infarction, Abnormality of skin pigmentation, Splenic rupture, Leuk... |
ORPHA:355 |
| Brucellosis |
|
Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis, Hypersplenism |
ORPHA:1304 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Mult... |
ORPHA:500095 |
| Loeys-Dietz Syndrome |
|
Thin skin, Uterine rupture |
ORPHA:60030 |
| Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia |
ORPHA:2072 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Leukocytosis, Hemolytic anemia |
ORPHA:544482 |
| Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:340 |
| Sarcoidosis |
|
Anemia, Hyperpigmentation of the skin, Hypopigmentation of the skin, Increased T cell count, Leuk... |
ORPHA:797 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Webbed neck |
ORPHA:1393 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak |
ORPHA:1974 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly, Hemolytic anemia |
OMIM:277900 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Elevated circulating thyroid-stimulating hormone concentration,... |
ORPHA:79318 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... |
ORPHA:177907 |
| Lysinuric Protein Intolerance |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Hepatosplenomegaly |
ORPHA:470 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis, Leukopeni... |
ORPHA:99826 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
| Hardikar Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism, Pigmentary retinopathy |
OMIM:301068 |
| Liver Disease, Severe Congenital |
|
Nail dystrophy, Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Dry hair |
OMIM:619991 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Autoimmune thrombocytopenia, Hypers... |
ORPHA:77293 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytopenia |
ORPHA:99827 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Woolly hair, Low posterior ha... |
OMIM:163950 |
| Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia |
ORPHA:51 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, Retinal pigment epithelial ... |
OMIM:219800 |
| Yellow Fever |
|
Neutrophilia, Thrombocytopenia, Leukocytosis |
ORPHA:99829 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Digeorge Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly |
OMIM:188400 |
| Acute Liver Failure |
|
Thrombocytopenia |
ORPHA:90062 |
| Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
| Craniofacial Microsomia 1 |
|
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... |
OMIM:164210 |
