Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Stomach cancer, Furrowed tongue, Intestinal polyposis, Generalized hyperp... |
ORPHA:2930 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Anemia, Fatigable weakness, Me... |
ORPHA:169105 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Sebaceous hyperpl... |
OMIM:135150 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Multi... |
OMIM:619101 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Alopecia,... |
OMIM:269200 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Myasthenia Gravis |
|
Thymoma, Abnormality of the endocrine system, Fatigable weakness, Limb muscle weakness, Proximal ... |
OMIM:254200 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune thrombocyto... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoim... |
ORPHA:227982 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormality of the small intestine... |
ORPHA:100025 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Immunodeficiency 31C |
|
Lymphopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Autoimmune hemo... |
OMIM:614162 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Malabsorption, Alopecia, Xerostomia, Hematochezia, Glossitis, Protein-losing ente... |
OMIM:175500 |
Thymoma, Familial |
|
Thymoma, Neoplasm, Respiratory insufficiency |
OMIM:274230 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Woolly hair, Sparse hair, Brittle hair, Hepatomegaly, Cirrhosis, Chronic hepatitis, Tric... |
OMIM:614602 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Melena, Intestinal car... |
ORPHA:652 |
Netherton Syndrome |
|
Sparse scalp hair, Asthma, Intestinal atresia, Brittle hair, Sparse eyebrow, Brittle scalp hair, ... |
OMIM:256500 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Central hypoventilation, Abnormality of the adrenal glands, Multip... |
ORPHA:251992 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
N Syndrome |
|
Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Desmoid Tumor |
|
Malabsorption, Abnormality of retinal pigmentation, Desmoid tumors, Intestinal obstruction, Fibro... |
ORPHA:873 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability |
ORPHA:859 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Hypopigmented skin patches, Hemangioma, Intestinal polyp, Gait disturbance, Cafe-au-lait ... |
ORPHA:457485 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis |
OMIM:619445 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Hereditary Mixed Polyposis Syndrome |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Type I diabetes mellitus, Pneumonia, Pancytopeni... |
OMIM:614700 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... |
OMIM:214450 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Dysphagia, Abnormal intes... |
ORPHA:70482 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thr... |
OMIM:304790 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... |
OMIM:616050 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Thymoma, Neoplasm, Fatigable weakness, Ophthalmoparesis, Hashimoto thyroiditis |
OMIM:159400 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia, Enlarged tonsils, Cellulitis, Hepatosplenomegaly, B lympho... |
OMIM:606367 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Malabsorption, Ovarian neopl... |
ORPHA:144 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Hirschsprung Disease |
|
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... |
ORPHA:388 |
Refractory Celiac Disease |
|
Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Lymphoma, Iron deficie... |
ORPHA:398063 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... |
ORPHA:263665 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Sparse hair, Alopecia |
OMIM:212835 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Thymic Tumor |
|
Neuroendocrine neoplasm, Fatigable weakness, Mediastinal lymphadenopathy, Neoplasm of the thymus,... |
ORPHA:100100 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Chol... |
ORPHA:95427 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... |
ORPHA:109 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Sparse hair, Alopecia, Hypogonadotropic hy... |
OMIM:275400 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Turcot Syndrome With Polyposis |
|
Melena, Ataxia, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intesti... |
ORPHA:99818 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abnormal lymp... |
ORPHA:90362 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Adenomatous colonic polyposis, Fundic gland polyposis, Absent eyebrow, Breast ... |
OMIM:608615 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Thymic Carcinoma |
|
Fatigable weakness, Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Diaphragmatic par... |
ORPHA:99868 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Congenital Disorder Of Glycosylation, Type Id |
|
Nail dysplasia, High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Vil... |
OMIM:601110 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Gastritis, Generalized hypopigmentation, Colitis, Splenomegaly, Cir... |
ORPHA:84064 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... |
OMIM:613490 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... |
ORPHA:1818 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Intestinal hypoplasia, Lipoatrophy, Sparse hair |
ORPHA:2301 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentation, Hypopigmented skin patches, Hyp... |
ORPHA:2885 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Cirrhosis, Villous atrophy, Hepatic fib... |
OMIM:602579 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... |
OMIM:175200 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Paronychia, Onychogryposis |
OMIM:614328 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Dystonia 31 |
|
Dysphagia, Difficulty walking, Abnormal posturing |
OMIM:619565 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... |
ORPHA:2869 |
Familial Adenomatous Polyposis 1 |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
OMIM:175100 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Cryptorchidism, Muscle weakness, Hypogonadism |
ORPHA:85274 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Sparse hair, Inguinal hernia, Gait disturbance, Fine hair, Cryptorchidism |
ORPHA:1174 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... |
ORPHA:77260 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Benign Schwannoma |
|
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morphology, Facial p... |
ORPHA:252164 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia, Low anterior hairline, Sparse hair, Distichiasis, Absent lower eyelashes |
OMIM:227260 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, High, narrow palate, Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy |
OMIM:619692 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... |
ORPHA:1008 |
Trichohepatoenteric Syndrome 1 |
|
Woolly hair, Sparse hair, Brittle hair, Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Generali... |
OMIM:222470 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Hypopigmentation of the skin, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... |
OMIM:605724 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... |
ORPHA:97290 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thick eyebrow, Sparse hair, Knee flexion contracture, Widow's peak, Interphalangeal joint contrac... |
OMIM:606242 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Intes... |
ORPHA:897 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Multiple cafe-au-lait spots, Colon cancer, Glioblastoma mul... |
OMIM:619096 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Ridged nail, Narrow nail... |
OMIM:224750 |
Cowden Syndrome 1 |
|
High palate, Thyroiditis, Hydrocele testis, Lymphopenia, Hyperthyroidism, Fibroadenoma of the bre... |
OMIM:158350 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... |
ORPHA:92050 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Epistaxis, Juvenile colonic polyposis |
ORPHA:289596 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Cowden Syndrome 5 |
|
High palate, Hydrocele testis, Hyperthyroidism, Breast carcinoma, Ovarian cyst, Hamartomatous pol... |
OMIM:615108 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cowden Syndrome 6 |
|
High palate, Hydrocele testis, Hyperthyroidism, Fibroadenoma of the breast, Breast carcinoma, Ova... |
OMIM:615109 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Muscle weakness, Dyspnea |
ORPHA:228312 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Abnormality of the lymphatic system, Neoplasm of the breast, ... |
ORPHA:618 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Neoplasm, Duodenal atresia, Multiple cafe-au-lait spots, Cleft palate, Stomach cancer, Nep... |
ORPHA:1052 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... |
OMIM:133180 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Inguinal hernia, Tachypnea, Pulmonary arterial hypertension, Neutropenia... |
OMIM:614857 |
Hodgkin Lymphoma |
|
Neoplasm, Ataxia, Hepatomegaly, Splenomegaly, Lymphoma, Cough, Dyspnea, Lymphadenopathy |
ORPHA:98293 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Si... |
ORPHA:381 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Adenomatous colonic polyposis, High palate, Airway obstruction, Intestinal bleeding, Hepatoblasto... |
ORPHA:261584 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorption, Villous atrophy |
OMIM:600955 |
Osteootohepatoenteric Syndrome |
|
Asthma, Microvesicular hepatic steatosis, Ileoileal intussusception, Cholestasis, Villous atrophy... |
OMIM:619377 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Bronchiectasis, Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil an... |
ORPHA:391487 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous atrophy, Cholangitis,... |
OMIM:209920 |
Grfoma |
|
Cholelithiasis, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97261 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hyperpigmentation, Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Atr... |
ORPHA:79133 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Cirrhosis, Pulmonary embolism, Cholecystitis, Microcytic anemia, Intestinal polyp... |
ORPHA:774 |
Cowden Syndrome |
|
High palate, Ataxia, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the th... |
ORPHA:201 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Enamel hypoplasia, Abnormality of skin pigmentation, Nail dystrophy,... |
ORPHA:79402 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Dysmetria... |
OMIM:212065 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Ataxia, Lymphopenia, Sparse hair, Reticular hyperpigmentation, Alopeci... |
OMIM:127550 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Neoplasm, Ovarian neoplasm, Macroglossia, Hyp... |
ORPHA:2221 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Azoospermia, Splenomegaly, Poikiloc... |
OMIM:615234 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease, Papi... |
ORPHA:319487 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Gastroesophageal reflux, Central sleep apnea, Hypopigmentation of hair... |
ORPHA:70472 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... |
ORPHA:1808 |
Ataxia-Telangiectasia |
|
Neoplasm, Type II diabetes mellitus, Lymphopenia, Multiple cafe-au-lait spots, Ataxia, Hypopigmen... |
ORPHA:100 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Camptodactyly of finger, Fingernail dysplasi... |
ORPHA:2251 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia iridis, White forelock, Prema... |
ORPHA:895 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Chromosome breakage, Splenomegaly |
OMIM:609981 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Exostoses, Coarse hair, Sparse or abs... |
ORPHA:113 |
Cartilage-Hair Hypoplasia |
|
Malabsorption, Fair hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Lymphopenia, Sparse faci... |
OMIM:250250 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocyt... |
ORPHA:231401 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Increased mitochondrial number, Bradykinesia |
OMIM:619063 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Lym... |
ORPHA:2584 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Piebaldism |
|
Ataxia, Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, White eyebrow... |
ORPHA:2884 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Meckel diverticulum |
OMIM:300864 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Splenomegaly... |
ORPHA:59303 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... |
ORPHA:1433 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... |
OMIM:114500 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Hypopigmented skin patches, Blue irides, White eyebrow, White eyelashes, Heterochromia ir... |
OMIM:277580 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Hyperpigmentation of the skin, Muscle weakness, Dyspnea, Anemia |
ORPHA:75563 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Wh... |
OMIM:613265 |
Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Hypothyroidism, Absent eyelashes, Nail dystrophy, Male hypogonadism,... |
OMIM:618625 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Chromosome breakage |
OMIM:617883 |
Chediak-Higashi Syndrome |
|
Ataxia, Hepatomegaly, Hemophagocytosis, Jaundice, Lymphadenopathy, Splenomegaly, Abnormal dense g... |
OMIM:214500 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Aspiration pneumonia, Pigmentary retinopathy, Cough, Gait distur... |
ORPHA:216866 |
Vascular Hyalinosis |
|
Malabsorption, Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Premature graying of... |
OMIM:277175 |
Aicardi Syndrome |
|
Malabsorption, Precocious puberty, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal ... |
ORPHA:50 |
Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Hypopigmented skin patches, Sparse hair, Abnormal hair pattern, Sparse lower eyelas... |
ORPHA:1807 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morp... |
ORPHA:2585 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Asthma, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Flexion contrac... |
OMIM:601675 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... |
OMIM:613101 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Irregular hyperpigmentation, ... |
ORPHA:44890 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... |
ORPHA:50944 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Abnormality of chromosome stability |
ORPHA:2268 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Cervical lymphadenopathy, Cholestasis, Jaundice, Necrotizing enteroco... |
OMIM:619573 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Generalized hyperpigmentation, Pr... |
ORPHA:33445 |
Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Villous atrophy, Hepatic fibrosis, Portal ... |
ORPHA:567983 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal... |
ORPHA:79301 |
Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... |
OMIM:257960 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Eosinophilic Gastroenteritis |
|
Asthma, Malabsorption, Leukocytosis, Steatorrhea, Eosinophilia, Abnormality of the gastrointestin... |
ORPHA:2070 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... |
OMIM:614470 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... |
OMIM:612526 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... |
OMIM:300853 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Neutropenia, Abnormal T cell ... |
OMIM:613502 |
Bazex Syndrome |
|
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Basal cell carcinoma, Furrowed tongue... |
OMIM:301845 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency 16 |
|
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... |
OMIM:613244 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, U... |
ORPHA:116 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Decreased DLCO, Dyspnea, An... |
OMIM:607616 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Alo... |
OMIM:615559 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Respiratory paralysis, Splenomegaly, Increased fecal coproporphyrin 3, Jaundice |
OMIM:121300 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Macroglossia, Long eyel... |
OMIM:614608 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Asthma, Hepatomegaly, Splenom... |
OMIM:612714 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hai... |
ORPHA:202 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Absent facial hair, Sparse facial hair, Abnormality of the hypothalamus-pitu... |
ORPHA:2183 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Sparse hair, Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus... |
ORPHA:436252 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Bannayan-Riley-Ruvalcaba syndrome |
|
High palate, Lipoma, Supernumerary nipple, Intussusception, Hemangioma, Multiple lipomas, Hematoc... |
OMIM:153480 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Alg9-Cdg |
|
Asthma, Hypertrichosis, Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Gastroesophag... |
ORPHA:79328 |
Medulloblastoma |
|
Adenomatous colonic polyposis, Ataxia, Medulloblastoma, Neuroblastoma, Progressive cerebellar ata... |
ORPHA:616 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea, Sparse hair, Abnormal hair whorl, High, narrow palate, Bifid uvula, Umbilical... |
ORPHA:2872 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, R... |
ORPHA:848 |
Sialidosis Type 2 |
|
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Muscle weakness, Umbili... |
ORPHA:87876 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair, Cryptorchidism, Decreased testicular size, Hypogonadism |
ORPHA:261483 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Colitis, Gastritis, Crohn's disease, Sple... |
OMIM:619381 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial alb... |
ORPHA:79477 |
Dyskeratosis Congenita |
|
Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Bone marrow hypocellularity, Anor... |
ORPHA:1775 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes |
OMIM:616901 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Sparse hair, Alopecia |
OMIM:617763 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism, High, narrow palate, Sparse hair, Umbilical hernia |
OMIM:273390 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Absent axillary hair, Thrombocytopenia |
OMIM:269600 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:86893 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Nicolaides-Baraitser Syndrome |
|
Sparse hair, High, narrow palate, Alopecia, Abnormal hair pattern, Curly eyelashes, Long eyelashe... |
ORPHA:3051 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Anal canal squamous cell carcinoma, Int... |
ORPHA:424019 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... |
OMIM:619350 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Hiatus hernia, Hematemesis, Esophagitis, Anemia, Abnormal posturing |
ORPHA:71272 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmented skin patches, Cleft palate, Hypopigmentation of hair, White eyebrow,... |
ORPHA:894 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Abnormal leukocyte morphology, Neoplasm, Ataxia, Anemia, Generalized hyperpigm... |
ORPHA:3322 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Moynahan Syndrome |
|
Hypogonadism, Sparse hair, Alopecia |
ORPHA:2574 |
Trigonocephaly 1 |
|
Meckel diverticulum, Synophrys, Omphalocele |
OMIM:190440 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair |
OMIM:129490 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Inflammation of the large... |
OMIM:300635 |
Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Sparse hair, Distichiasis, High anterior hairline, Small nail |
OMIM:119580 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... |
OMIM:235200 |
Mandibuloacral Dysplasia |
|
High palate, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Sparse hair... |
ORPHA:2457 |
Gaucher Disease, Type Ii |
|
Apnea, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, Anemia, Thrombocyto... |
OMIM:230900 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... |
ORPHA:1809 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hypopigmentati... |
ORPHA:261304 |
Cardiofaciocutaneous Syndrome 2 |
|
High palate, Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... |
ORPHA:306498 |
Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... |
ORPHA:801 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Fine hair, Anorectal anomaly |
ORPHA:1839 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Gastroesophageal reflux, Hepatomegaly, Chronic pulmonary obstruction, Splen... |
ORPHA:2414 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Adrenal calcification, Steatorrhea, Esophageal... |
ORPHA:75233 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Infantile Sialic Acid Storage Disease |
|
High palate, Fair hair, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Hypopigmentation of t... |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Enamel hypoplasia, Nail dystrophy, Melanocytic... |
OMIM:275450 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Breast aplasia, Intestinal polyposis |
ORPHA:276413 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphoma, Cough, Bone ma... |
ORPHA:391 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Flexion contracture, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eye... |
ORPHA:2850 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Fine hair, Odontodysplasia, Slow-growing hair |
OMIM:601453 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle h... |
ORPHA:2963 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... |
ORPHA:1414 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... |
OMIM:256710 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hirsutism, Poor head control, Inability to walk, Sparse hair, Ataxia, Dysmetria |
OMIM:618087 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the colon, Pituitary adenoma, Neuro... |
ORPHA:440437 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Stomach cancer, Pneumonia... |
ORPHA:125 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Cleft palate, Camptodactyly, Enamel hypoplasia, Anteriorly placed anus, Thrombocytop... |
OMIM:619980 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Ataxia, Recurrent infection of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Cirrhosis,... |
OMIM:613489 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Ileus, Heterochromia iridis, Hepatomegaly, Hypopigmented skin patche... |
ORPHA:163746 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Hepatomegaly, Lipoatrophy, Splenomegaly, Sparse body hair, Aplasia/Hyp... |
ORPHA:1133 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto... |
OMIM:603554 |
Whim Syndrome |
|
Papilloma, Sinusitis, Lymphopenia, Cellulitis, Cutaneous melanoma, Limb ataxia, Lymphadenitis, Ab... |
ORPHA:51636 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Fat malabsorption, Ja... |
OMIM:211600 |
Anauxetic Dysplasia 2 |
|
Nail dysplasia, Sparse hair, Macroglossia, Flexion contracture, Small nail |
OMIM:617396 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... |
OMIM:158320 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Hirsutism, Elevated circulating growth hormone concentration, Thyroid carcinom... |
OMIM:160980 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the small intestine, Lipodystrophy, Neoplasm of the oral cavity, Hy... |
ORPHA:902 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Normocytic anemia,... |
OMIM:615512 |
Noonan Syndrome 6 |
|
Sparse hair, Juvenile myelomonocytic leukemia, Multiple lentigines, Long eyebrows, Cafe-au-lait s... |
OMIM:613224 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Inability to walk, Sparse hair, Brittle hair, Sparse eyebrow, Sparse eyelashes,... |
OMIM:617988 |
Immunodeficiency 64 |
|
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... |
OMIM:618534 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Lymphoma, Hemolytic anemia, Muscle weakness, Dyspnea |
ORPHA:98375 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadeni... |
OMIM:618935 |
Alg6-Cdg |
|
Ataxia, Jaundice, Macroglossia, Protein-losing enteropathy, Puberty and gonadal disorders, Increa... |
ORPHA:79320 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Aplastic anemia |
OMIM:610832 |
Adams-Oliver Syndrome 5 |
|
Hypoplastic toenails, Inguinal hernia, Splenomegaly, Right ventricular hypertrophy, Dystrophic to... |
OMIM:616028 |
Down Syndrome |
|
Anal atresia, Type II diabetes mellitus, Narrow palate, Sparse hair, Macroglossia, Abnormality of... |
ORPHA:870 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Lig4 Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Leukocytosis, Pancytopenia |
ORPHA:99812 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Alopecia, Eosinophil... |
ORPHA:39041 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Neutropenia, Ane... |
ORPHA:79312 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmented skin patches, Aplasia/Hypoplasia of the colon, Hypopig... |
ORPHA:3440 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Generalized hyperpigmentation, Retinal ha... |
ORPHA:744 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Lym... |
ORPHA:3162 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Juvenile gastrointestinal polyposis, Hematochezia, Anemia, Ga... |
OMIM:175050 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Hypermelanotic macule, Chronic pulmonary obstruction, Spl... |
ORPHA:379 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Increased mean platelet volume, Pyloric stenosis, Intestinal pseudo-obstr... |
OMIM:300048 |
Huntington Disease-Like 1 |
|
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Abnormal posturing |
ORPHA:157941 |
Immunodeficiency 14A, Autosomal Dominant |
|
Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... |
OMIM:615513 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
Hurler-Scheie Syndrome |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Hernia, Rhinitis |
ORPHA:93476 |
Even-Plus Syndrome |
|
High palate, Anal atresia, Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Pseudoprogeria Syndrome |
|
Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Absent eyelashes |
ORPHA:2985 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Esophageal varix, Jaundice |
ORPHA:75234 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Type ... |
ORPHA:181 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Hawkinsinuria |
|
Hypothyroidism, Fine hair, Sparse hair |
ORPHA:2118 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes |
OMIM:607903 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... |
ORPHA:90291 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Hyperinsulinemia, Sparse hair, Flexion contracture, Brittle hair, Alopecia, Loss of ... |
OMIM:608612 |
Piebald Trait |
|
Neoplasm, Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Pieba... |
OMIM:172800 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reticulocytosis |
OMIM:612126 |
Adams-Oliver Syndrome |
|
Sparse hair, Alopecia, Cirrhosis, Leukopenia, Congenital hepatic fibrosis, Absent fingernail, Thr... |
ORPHA:974 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Sparse hair, Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypo... |
OMIM:616353 |
Mucopolysaccharidosis, Type Ii |
|
Asthma, Hypertrichosis, Abnormality of retinal pigmentation, Hepatomegaly, Airway obstruction, Fl... |
OMIM:309900 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... |
OMIM:600901 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Axillary freckling, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphom... |
OMIM:619097 |
Cardiofaciocutaneous Syndrome 4 |
|
Sparse hair, Absent eyebrow, Sparse eyelashes, Decreased response to growth hormone stimulation t... |
OMIM:615280 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hyperpigmentation of the sk... |
OMIM:602390 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Sparse hair, Cardiomegaly |
OMIM:613576 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Sponta... |
OMIM:614072 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Sialuria |
|
High palate, Sleep apnea, Generalized hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Hyp... |
OMIM:269921 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie... |
ORPHA:231226 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hyperpigmentation of the skin, Hypogonad... |
OMIM:613313 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Prolidase Deficiency |
|
High palate, Asthma, Hepatomegaly, Splenomegaly, Facial hirsutism, Chronic lung disease, Recurren... |
OMIM:170100 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Inflammation of... |
OMIM:203300 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... |
OMIM:240500 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... |
OMIM:225060 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Low anterior hairline, Sparse hair, Distal muscle weakness, Hypothyroidism, Fin... |
ORPHA:391408 |
Rosselli-Gulienetti Syndrome |
|
Nail dysplasia, Progressive hypotrichosis, Cleft palate, Sparse eyebrow, Sparse eyelashes |
OMIM:225000 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Ataxia, Splenomegaly, Spontaneous hemolytic cris... |
OMIM:613470 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Hydrocele testis, Absent eyebrow, Alopecia, Sparse body hair, Abnormality of t... |
ORPHA:69735 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... |
ORPHA:545 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa, Head titubation |
OMIM:619691 |
Vici Syndrome |
|
Ocular albinism, Cleft palate, Hypopigmentation of the skin, Left ventricular hypertrophy, Hypopi... |
OMIM:242840 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... |
OMIM:601847 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Cryptorchidism, Flexion contracture, Hypergonadotropic hypogonadism, Thrombocytopeni... |
OMIM:227645 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Inability to walk, Dysphagia, Facial palsy, Abnormal posturing |
OMIM:128100 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Sparse hair, Alopecia, Cleft palate, Hypogonadotropic hypogonadism, Facial palsy,... |
OMIM:147770 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... |
OMIM:613011 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Whipple Disease |
|
Malabsorption, Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Mediastinal lymphad... |
ORPHA:3452 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Abnormality of sk... |
OMIM:227650 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hirsutism, Low anterior hairline, Hepatomegaly, Inability to walk, Flexion ... |
OMIM:617303 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypertrichosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Cleft palate, Pulmonary... |
OMIM:235255 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:616099 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Sparse hair, Nailfold capillary tortuosity, Leukopenia, Follicular hyperplasia, Tach... |
OMIM:615934 |
Lysosomal Acid Lipase Deficiency |
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Adrenal insufficiency, Hepatomegaly, Periportal fibrosis, Splenomegaly, Adrenal calcification, Ci... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hepatomegaly, Cryptorchidism, Cholestasis, Thrombocytopenia, Camptodactyly, Hypothyroidism, Prote... |
OMIM:608104 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Atrophic gastritis, Autoimmune thromboc... |
OMIM:616100 |
Primary Myelofibrosis |
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Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Trichothiodystrophy 3, Photosensitive |
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Lymphopenia, Meckel diverticulum, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, Pyloric... |
OMIM:616395 |
Filippi Syndrome |
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Hypertrichosis, Cryptorchidism, Sparse hair, Frontal hirsutism |
OMIM:272440 |
Oculoskeletodental Syndrome |
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Low anterior hairline, Hepatomegaly, Macroglossia, Splenomegaly, Hypothyroidism, Protein-losing e... |
OMIM:618440 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati... |
OMIM:104100 |
Congenital Short Bowel Syndrome |
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Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... |
OMIM:615237 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
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Broad-based gait, Thick eyebrow, Sparse hair, Synophrys, Achilles tendon contracture |
OMIM:611091 |
Typhoid |
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Ataxia, Hepatomegaly, Splenomegaly, Cough, Gastrointestinal hemorrhage, Epistaxis, Lethargy |
ORPHA:99745 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Abnormal mast cell morphology, Spl... |
ORPHA:98849 |
Johnson Neuroectodermal Syndrome |
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Absent eyebrow, Sparse hair, Alopecia, Cleft palate, Facial palsy, Absent eyelashes, Hypogonadism... |
ORPHA:2316 |
Oculocutaneous Albinism |
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Ocular albinism, Cutaneous melanoma, Generalized hypopigmentation, Hypopigmentation of the skin, ... |
ORPHA:55 |
Tetrasomy 12P |
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Anal atresia, Abnormal soft palate morphology, Sparse hair, Sparse eyebrow |
ORPHA:884 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Ileus, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Pyloric sten... |
OMIM:613327 |
Felty Syndrome |
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Sinusitis, Hepatomegaly, Irregular hyperpigmentation, Cellulitis, Splenomegaly, Rhinitis, Abnorma... |
ORPHA:47612 |
Budd-Chiari Syndrome |
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Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intestinal obst... |
ORPHA:131 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Cryptorchidism, Hypergonadotropic hypogonadism, Tracheoesophageal ... |
OMIM:227646 |
Bile Acid Malabsorption, Primary, 1 |
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Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Lelis Syndrome |
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Yellow nails, Sparse hair, Furrowed tongue, Vitiligo, Perioral hyperpigmentation, Abnormal toenai... |
ORPHA:140936 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... |
OMIM:602400 |
Dermoodontodysplasia |
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Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, ... |
ORPHA:1660 |
2Q32Q33 Microdeletion Syndrome |
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High palate, Sparse hair, Cleft palate, Fine hair, Decreased testicular size |
ORPHA:251019 |
Mucopolysaccharidosis, Type Iiic |
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Hirsutism, Hypertrichosis, Hepatomegaly, Splenomegaly, Coarse hair, Hernia, Synophrys, Dysphagia |
OMIM:252930 |
Xp22.13P22.2 Duplication Syndrome |
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High palate, Congenital diaphragmatic hernia, Sparse hair, Umbilical hernia, Polycystic ovaries, ... |
ORPHA:284180 |
Schnitzler Syndrome |
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Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy |
ORPHA:37748 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Dysphagia, Abnormal posturing |
ORPHA:225147 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
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Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Ataxia, Long eyelashes |
OMIM:616819 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Bone Marrow Failure Syndrome 3 |
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Exocrine pancreatic insufficiency, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemi... |
OMIM:617052 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, White hair, H... |
ORPHA:79435 |
Gand Syndrome |
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