Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Abnormal odontoid tissue morphology, Neoplasm of the rectum, Colon cancer, ... |
ORPHA:401911 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Cronkhite-Canada Syndrome |
|
Generalized hyperpigmentation, Neoplasm, Hepatomegaly, Furrowed tongue, Splenomegaly, Sparse body... |
ORPHA:2930 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Good Syndrome |
|
Thymoma, Anemia, Bronchiectasis, Aplasia/Hypoplasia of the thymus, Fatigable weakness, Diabetes m... |
ORPHA:169105 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Birt-Hogg-Dube Syndrome |
|
Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Sebaceous h... |
OMIM:135150 |
Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Colon cancer, Multiple cafe-au-lait spots, Glioblastoma multiforme, Adenomatous colo... |
OMIM:619101 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine panc... |
OMIM:269200 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Myasthenia Gravis |
|
Thymoma, Proximal muscle weakness, Fatigable weakness, Dysphagia, Abnormality of the endocrine sy... |
OMIM:254200 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypogly... |
ORPHA:276152 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Alopecia, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-caseating epithelioid c... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Biliary cirrhosis, Primary adrenal insufficiency, Celiac disease, Graves disease, Vitiligo, Aplas... |
ORPHA:227982 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Breast carcinoma, Colorectal polyposis, Bladder ... |
ORPHA:157798 |
Hypotrichosis 1 |
|
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... |
OMIM:605389 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by c... |
OMIM:616435 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in... |
ORPHA:85138 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:652 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Trichorrhexis nodosa, Villous atrophy, Brittle hair, Woolly hair, Chronic hepatitis, U... |
OMIM:614602 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:617243 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Thymoma, Familial |
|
Thymoma, Respiratory insufficiency, Neoplasm |
OMIM:274230 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anemia, Malabsorption, Gastrointestinal carcinoma, Glossitis, Muscle weakness, Nail dys... |
OMIM:175500 |
Netherton Syndrome |
|
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Villous atrophy, Brittle hair, Asthma, Brit... |
OMIM:256500 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Alopecia, Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestin... |
ORPHA:100025 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
Ganglioneuroma |
|
Colorectal polyposis, Multiple intestinal neurofibromatosis, Ganglioneuroma, Neoplasm of the adre... |
ORPHA:251992 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Asthma, Gait disturbance, Hemangioma, Hypopigmented skin patches, ... |
ORPHA:457485 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Desmoid Tumor |
|
Fibroma, Malabsorption, Neoplasm of the skin, Intestinal polyposis, Abnormality of retinal pigmen... |
ORPHA:873 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules, Villous atrophy |
OMIM:619445 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... |
ORPHA:157794 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Vitili... |
OMIM:614700 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Lymphadenopathy, Cou... |
ORPHA:70482 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Pancytopenia, Thromboc... |
OMIM:616050 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Hypothyroidism, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, T... |
OMIM:304790 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Thymoma, Ophthalmoparesis, Fatigable weakness, Hashimoto thyroiditis, Neoplasm |
OMIM:159400 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Villous atrophy, Hemolytic anemia, B ... |
OMIM:606367 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Flexion contracture, Ur... |
ORPHA:144 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Colorectal polyposis, Astrocytoma, Adenocar... |
ORPHA:220460 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Refractory Celiac Disease |
|
Lymphoma, Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Abnormal spleen physiolog... |
ORPHA:398063 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal polyposis... |
ORPHA:388 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Anemia, Multiple gastric polyps, Small intestinal polyposis, Rectal polyposis... |
ORPHA:329971 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid... |
ORPHA:79665 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Stomach cancer, Colorectal polyposis, Astrocytoma, Multiple gastric polyps, Neoplasm o... |
ORPHA:480536 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... |
ORPHA:71505 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis |
OMIM:246470 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... |
ORPHA:2929 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... |
ORPHA:90362 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea... |
ORPHA:247806 |
Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Lymphoma, Irregular hyperpigmentation, Narrow palate, Neoplasm of the adrenal cortex, Thyroid car... |
ORPHA:109 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Long eyeb... |
OMIM:275400 |
Thymic Tumor |
|
Neoplasm of the thymus, Fatigable weakness, Neuroendocrine neoplasm, Diaphragmatic paralysis, Dys... |
ORPHA:100100 |
Immunodeficiency 31C |
|
Hypothyroidism, Villous atrophy, Bronchiectasis, Intussusception, Lymphopenia, Impaired lymphocyt... |
OMIM:614162 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... |
ORPHA:95427 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hypotrichosis 9 |
|
Sparse body hair, Sparse scalp hair |
OMIM:614237 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyelashes, Sparse eyebrow |
OMIM:614238 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Fatigable weakness, Diaphragmatic paralysis, Dyspnea, Cough, Mediastinal ... |
ORPHA:99868 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse body hair, Breast carcinoma, Sparse scalp hair, Sparse axillary hair, Fundic gland polypos... |
OMIM:608615 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegaly, Colitis, Splen... |
ORPHA:84064 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Melanocytic nevus, Abnormal eyelash morpholo... |
ORPHA:1818 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Bronchiectasis, Wheezing, Hepatocellular carcinoma, Chronic pulmonary obstruction, Dys... |
OMIM:613490 |
Congenital Disorder Of Glycosylation, Type Id |
|
Small nail, High palate, Flexion contracture, Villous atrophy, Joint contracture of the hand, Bif... |
OMIM:601110 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Lipoatrophy, Sparse hair, Intestinal hypoplasia |
ORPHA:2301 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea, Hyperinsulinemic hyp... |
OMIM:602579 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, B-cell lymphoma, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Neoplasm of the ... |
ORPHA:2885 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Onychogryposis, Paronychia, Villous atrophy, Duodenitis |
OMIM:614328 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... |
ORPHA:2869 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Dysphagia |
OMIM:619565 |
Peutz-Jeghers Syndrome |
|
Breast carcinoma, Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple... |
OMIM:175200 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Hepatoblastoma, Papillary thyroid carcinoma, Multiple lipomas, Astrocytoma, Colon cancer... |
OMIM:175100 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Muscle weakness, Hypogonadism, Cryptorchidism |
ORPHA:85274 |
Familial Adenomatous Polyposis |
|
Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ... |
ORPHA:733 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Gait disturbance, Fine hair, Ataxia, Inguinal hernia, Cryptorchidism, Sparse hair |
ORPHA:1174 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... |
OMIM:174800 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia |
OMIM:614931 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Gaucher Disease Type 2 |
|
Flexion contracture, Ophthalmoplegia, Respiratory distress, Abnormal pattern of respiration, Coug... |
ORPHA:77260 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... |
ORPHA:1008 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, H... |
ORPHA:158057 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Anal atresia, Distichiasis, Sparse hair, Low anterior hairline |
OMIM:227260 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Curly hair, Trichorrhexis nodosa, Cirrhosis, Villous atrophy, Brittle hair, Abn... |
OMIM:222470 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinom... |
ORPHA:97290 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... |
OMIM:617294 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Ataxia, Sparse hair, High, narrow palate, Nail dystrophy |
OMIM:619692 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... |
OMIM:605724 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Heman... |
OMIM:616858 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Villous atrophy, Reticulocytopenia, Malabsorption, Refractory sideroblastic anemia, Sider... |
OMIM:557000 |
Schopf-Schulz-Passarge Syndrome |
|
Apocrine hidrocystoma, Small nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Thin na... |
OMIM:224750 |
Cowden Syndrome 1 |
|
Breast carcinoma, Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis,... |
OMIM:158350 |
Juvenile Nasopharyngeal Angiofibroma |
|
Epistaxis, Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Knee flexion contracture, Widow's peak, Interphalangeal joint contracture of finger, Thick eyebro... |
OMIM:606242 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Multiple cafe-au-lait spots, Glioblastoma mul... |
OMIM:619096 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Synophrys, White e... |
ORPHA:897 |
Cowden Syndrome 5 |
|
Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis,... |
OMIM:615108 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Cowden Syndrome 6 |
|
Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis,... |
OMIM:615109 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
Familial Melanoma |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Freckling, Abnormal hair morphology,... |
ORPHA:618 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Stomach cancer, Hypothyroidism, Abnormality of skin pigmentation, Myelodysplasia,... |
ORPHA:1052 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Hypopigmentation of the skin, Adenocarcinoma of the small intestine, A... |
OMIM:276300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Granulo... |
ORPHA:75564 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Villous atrophy |
OMIM:600955 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Myelodysplasia, Bone marrow hypocellularity, Thrombocytopenia, Aplasti... |
OMIM:127550 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Abnormal intestine morphology, Esophageal ... |
ORPHA:391487 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Hepatomega... |
OMIM:133180 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Abnormal posturing, Inguinal hernia, Cr... |
OMIM:614857 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Neopl... |
ORPHA:454840 |
Autoimmune Hemolytic Anemia, Cold Type |
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Hemolytic anemia, Muscle weakness, Dyspnea, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopenia, Decreased pro... |
OMIM:619510 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Sparse body hair, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Atrophic scars, Sc... |
ORPHA:79402 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:608971 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Ileoileal intussusception, Anemia, Microvesicular hepatic steatosis, Villous at... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypothyroidism, Hepatic fibrosis, Flexion contracture, Villous atrophy, Abnormal subcutaneous fat... |
OMIM:212065 |
Juvenile Polyposis Of Infancy |
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Anemia, High, narrow palate, Intussusception, Hematochezia, Hemangioma, Subcutaneous lipoma, Inte... |
ORPHA:79076 |
Hodgkin Lymphoma |
|
Lymphoma, Ataxia, Lymphadenopathy, Neoplasm, Dyspnea, Hepatomegaly, Cough, Splenomegaly |
ORPHA:98293 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Cirrhosis, Visceral angiomatosis, Intestinal... |
ORPHA:774 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... |
ORPHA:381 |
Grfoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97261 |
Cowden Syndrome |
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Fibroma, Melanocytic nevus, Neoplasm of the central nervous system, Melanoma, Neoplasm of the ski... |
ORPHA:201 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... |
ORPHA:42665 |
Focal Facial Dermal Dysplasia Type I |
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Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Atrophic scars, Spotty hyperpi... |
ORPHA:79133 |
Bare Lymphocyte Syndrome, Type Ii |
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Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Colitis,... |
OMIM:209920 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
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Duodenal polyposis, High palate, Spastic gait, Osteoma, Hepatoblastoma, Colon cancer, Airway obst... |
ORPHA:261584 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Glossitis, Macroglossia, Fine hair, Neoplasm of the respiratory syst... |
ORPHA:2221 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Neoplasm of head ... |
ORPHA:319487 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Gastroesophageal reflux, Inability to walk, Central sleep apnea, Ataxia, Hepatic steatosis, Muscl... |
ORPHA:70472 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Ataxia-Telangiectasia |
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Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
Pyropoikilocytosis, Hereditary |
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Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
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Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... |
ORPHA:1808 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Benign Schwannoma |
|
Abnormality of the liver, Abnormal parotid gland morphology, Facial palsy, Schwannoma, Intestinal... |
ORPHA:252164 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, Hypopigmentation of... |
ORPHA:895 |
Immunodeficiency 54 |
|
Chromosome breakage, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
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Camptodactyly of finger, Alopecia, Fingernail dysplasia, Ridged fingernail, Hypopigmented skin pa... |
ORPHA:2251 |
Familial Adenomatous Polyposis 3 |
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Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... |
OMIM:616415 |
Diamond-Blackfan Anemia 3 |
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Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Bazex-Dupré-Christol Syndrome |
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Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Basal cell carcinoma, Sparse... |
ORPHA:113 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Piebaldism |
|
Piebaldism, White eyelashes, Aganglionic megacolon, Synophrys, White eyebrow, Neoplasm of the ski... |
ORPHA:2884 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute leukemia, Splenomeg... |
ORPHA:231401 |
Cartilage-Hair Hypoplasia |
|
Lymphoma, Sparse eyebrow, Congenital hypoplastic anemia, Anemia, Esophageal atresia, Malabsorptio... |
OMIM:250250 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Classic Mycosis Fungoides |
|
Lymphoma, Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Neoplasm of the skin, H... |
ORPHA:2584 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Colorectal Cancer |
|
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... |
OMIM:114500 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... |
ORPHA:59303 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Abnormality of retinal pigmentation, Abnormal fingernail morphol... |
ORPHA:1433 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Ataxia, Hypopig... |
OMIM:277580 |
X-Linked Sideroblastic Anemia |
|
Anemia, Muscle weakness, Dyspnea, Hyperpigmentation of the skin, Splenomegaly |
ORPHA:75563 |
Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Pleur... |
OMIM:619573 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Cafe-au-lait spot, Absent eyelashes, Thin nail, Male hypogonadism, Absent eyebrow... |
OMIM:618625 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Aspiration pneumonia, Inability to walk, Gait disturbance, Coug... |
ORPHA:216866 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... |
OMIM:613265 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Iris hypopigmentation, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnormal ... |
OMIM:214500 |
Aicardi Syndrome |
|
Gastroesophageal reflux, Multiple lipomas, Precocious puberty, Sparse lateral eyebrow, Abnormalit... |
ORPHA:50 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Gait disturbance, Pancytopenia, Ab... |
ORPHA:2585 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcinoma, Basal cell carcinoma, Spars... |
ORPHA:50944 |
Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lateral eyebrow, Anal atresia, Hypopigmented skin patches, Multiple cafe-au-lait spots, Ab... |
ORPHA:1807 |
Icf Syndrome |
|
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro... |
OMIM:613101 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Biliary hyperplasia, Hepatic fibrosis, Cirrhosis, Villous atrophy, Jaundice, Hepati... |
ORPHA:567983 |
Trichothiodystrophy 1, Photosensitive |
|
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Malabsorption, Hy... |
OMIM:601675 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Small nail, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
OMIM:615631 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... |
OMIM:617100 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease... |
ORPHA:79301 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni... |
OMIM:614470 |
Coproporphyria, Hereditary |
|
Respiratory paralysis, Jaundice, Increased fecal coproporphyrin 3, Hepatomegaly, Increased fecal ... |
OMIM:121300 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of C... |
OMIM:300853 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Abnormal hemoglo... |
ORPHA:846 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Bradykinesia, Increased mitochondrial number |
OMIM:619063 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Li... |
OMIM:612526 |
Lynch Syndrome 8 |
|
Endometrial carcinoma, Colon cancer, Adenomatous colonic polyposis, Hereditary nonpolyposis color... |
OMIM:613244 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... |
OMIM:617514 |
Fanconi Anemia, Complementation Group S |
|
Breast carcinoma, Anemia, Narrow palate, Long eyelashes, Ataxia, Ovarian carcinoma, Sparse hair, ... |
OMIM:617883 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Keloids, Alopecia universalis, Tricho... |
ORPHA:2890 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Dyspnea, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, ... |
OMIM:607616 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma |
OMIM:615593 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Hypopigmentation of the skin, Decreased response to growth hormone stimulation ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Hypopigmentation of the skin, Decreased response to growth hormone stimulation ... |
ORPHA:71526 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Gonadoblastoma, Melanocytic nevus, Large intestinal polyposis, Hepatoblastoma, Ne... |
ORPHA:116 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho... |
ORPHA:202 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Azoospermia, Absent facial hair, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:2183 |
Bazex Syndrome |
|
Trichorrhexis nodosa, Pili torti, Basal cell carcinoma, Trichoepithelioma, Coarse hair, Furrowed ... |
OMIM:301845 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Vascular Hyalinosis |
|
Premature graying of hair, Malabsorption, Chorioretinal scar, Protein-losing enteropathy, Hematoc... |
OMIM:277175 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Increased B cell count, Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenom... |
OMIM:615559 |
Alg9-Cdg |
|
Gastroesophageal reflux, Periportal fibrosis, Villous atrophy, Asthma, Enlarged kidney, Bifid uvu... |
ORPHA:79328 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Crohn's disease, Reduced natural killer cell count, Duodenal ulcer, Villous atrophy, T ly... |
OMIM:619381 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Type I diabete... |
ORPHA:436252 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Medulloblastoma |
|
Cerebellar ataxia associated with quadrupedal gait, Medulloblastoma, Cerebellar medulloblastoma, ... |
ORPHA:616 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Episodic tachypnea, Bifid uvula, Contracture of the proximal interph... |
ORPHA:2872 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... |
ORPHA:79477 |
Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Sparse body hair, Hypogonadism, Cryptorchidism |
ORPHA:261483 |
Dyskeratosis Congenita |
|
Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Neoplasm, Abnorm... |
ORPHA:1775 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Loss of ambulation, Dysph... |
OMIM:618253 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Ataxi... |
ORPHA:3322 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, Aganglionic megacolon, White eyelashes, White eyebrow, Hypo... |
ORPHA:894 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
High, narrow palate, Sparse hair, Umbilical hernia, Cryptorchidism |
OMIM:273390 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Anemia, Abnormal posturing, Hematemesis, Esophagitis, Hiatus hernia |
ORPHA:71272 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Hernia, Abnormal testis morphology, High, narrow palate, Long eyelashes, Abnormal hair ... |
ORPHA:3051 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Sialidosis Type 2 |
|
Flexion contracture, Ataxia, Muscle weakness, Inguinal hernia, Dyspnea, Hepatomegaly, Ascites, Sp... |
ORPHA:87876 |
Beta-Thalassemia |
|
Respiratory insufficiency, Anemia, Hepatitis, Muscle weakness, Hepatomegaly, Cholelithiasis, Hypo... |
ORPHA:848 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Cirrhosis, Absent axillary hair, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Papilloma, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, A... |
ORPHA:424019 |
Eosinophilic Gastroenteritis |
|
Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Asthma, Allergic rhinitis, Stea... |
ORPHA:2070 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Asthma, Jaundice, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency... |
OMIM:612714 |
Muir-Torre Syndrome |
|
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... |
ORPHA:587 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoi... |
ORPHA:99889 |
Moynahan Syndrome |
|
Alopecia, Sparse hair, Hypogonadism |
ORPHA:2574 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair |
OMIM:129490 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Chronic sinusitis, Recurrent pneumonia, Protein-losing enteropathy, N... |
OMIM:613502 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Anal atresia, Nail dysplasia, Distichiasis, Sparse hair |
OMIM:119580 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Respiratory distress, Lipoatroph... |
ORPHA:261304 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Allergic rhinitis,... |
ORPHA:90368 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Contractures of the large joints, High palate, Abnormality of skin pi... |
ORPHA:2457 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Breast carcinoma, Thyroid carcinoma, Renal cell carcinoma, Multiple trichilemmomata, M... |
ORPHA:306498 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy |
OMIM:158000 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, High palate, Fine hair, Absent eyebrow, Sparse hair |
OMIM:615278 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Inflammation of the large intestine, Hemophagocytosis, Hepatomegaly, Col... |
OMIM:300635 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Sparse scalp hair, Absent eyelashes, Trichodysplasia, Supernumerary nipple, Abn... |
ORPHA:1809 |
Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Hepatocellular carcinoma, Azoospermia, Hyperpigmentation of the skin, Pleura... |
OMIM:235200 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Alopecia, Fine hair, Tracheoesophageal fistula, Furrowed tongue, Sparse hair |
ORPHA:1839 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Neoplasm of the pancreas, Hepatocellular carcinoma, Neoplasm of the thyroid ... |
ORPHA:440437 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Respiratory distress, Chronic pulmonary... |
ORPHA:2414 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol... |
ORPHA:276399 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Wolman Disease |
|
Anemia, Adrenal insufficiency, Steatorrhea, Adrenal calcification, Bone-marrow foam cells, Hepato... |
ORPHA:75233 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... |
OMIM:256710 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Fine hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
Progeroid Syndrome, Petty Type |
|
Lipoatrophy, Brittle hair, Reduced subcutaneous adipose tissue, Long eyelashes in irregular rows,... |
ORPHA:2963 |
Classic Hodgkin Lymphoma |
|
Lymphoma, Respiratory insufficiency, Ataxia, Lymphadenopathy, Neoplasm, Bone marrow hypocellulari... |
ORPHA:391 |
Ruijs-Aalfs Syndrome |
|
Hypogonadism, Premature graying of hair, Elbow flexion contracture, Hepatocellular carcinoma, Lip... |
OMIM:616200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Hepatomegaly, Por... |
OMIM:619463 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Abnormality of skin pigmentation, Jaundice, Acholic stools, Biliary ... |
ORPHA:1414 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Type I diabetes m... |
ORPHA:1133 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Breast aplasia, Intestinal polyposis |
ORPHA:276413 |
Bloom Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Neopla... |
ORPHA:125 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Splenomegaly, Myelodysplasia |
ORPHA:721 |
Hawkinsinuria |
|
Hypothyroidism, Sparse hair, Fine hair |
ORPHA:2118 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Thyroid carcinoma, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Muir-Torre Syndrome |
|
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... |
OMIM:158320 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Curly hair, Camptodactyly, Anteriorly placed anus, Cleft palate, Thrombocytope... |
OMIM:619980 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Ataxia, Hepatomegaly, Splenomegaly, Recurrent infection of the gastrointestinal tract,... |
OMIM:613489 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Microcolon, Aganglionic meg... |
ORPHA:163746 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Flexion contrac... |
ORPHA:2850 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Inability to walk, Brittle hair, Choreoathetosis, Fine hair, Muscle ... |
OMIM:617988 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun... |
ORPHA:64743 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Dystrophic toenail, Hypoplastic toenails, Absent toenail, Hypers... |
OMIM:616028 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Choreoathetosis, Respiratory distress, Hepatomegaly, Lethargy, Thrombocytop... |
ORPHA:79312 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Hyperpigmentat... |
OMIM:618892 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231222 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Alopecia, Sparse eyebrow, Hepatic fibrosis, Enamel hypoplasia, Scle... |
OMIM:607626 |
Werner Syndrome |
|
Abnormal testis morphology, Premature graying of hair, Melanoma, White forelock, Neoplasm, Abnorm... |
ORPHA:902 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Noonan Syndrome 6 |
|
Curly hair, Cafe-au-lait spot, Long eyebrows, Multiple lentigines, Juvenile myelomonocytic leukem... |
OMIM:613224 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair |
OMIM:234030 |
Even-Plus Syndrome |
|
High palate, Synophrys, Anal atresia, Sparse hair, Highly arched eyebrow |
OMIM:616854 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Ataxia, Bone marrow hypocellularity, Oral leukoplakia... |
OMIM:616353 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Gait ataxia, Sparse eyebrow, Tiger tail banding, Brittle hair, Decreased testicular size, Panhypo... |
OMIM:300953 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Hemolytic anemia, Normocytic anemia, Jaundice, Respiratory distress, P... |
OMIM:615512 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Down Syndrome |
|
Hypothyroidism, Narrow palate, Acute megakaryocytic leukemia, Aganglionic megacolon, Type II diab... |
ORPHA:870 |
Anauxetic Dysplasia 2 |
|
Small nail, Flexion contracture, Macroglossia, Nail dysplasia, Sparse hair |
OMIM:617396 |
Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... |
OMIM:618534 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Ulcerative colitis, Anal fiss... |
OMIM:618935 |
Huntington Disease-Like 1 |
|
Gait ataxia, Abnormal posturing, Gait disturbance, Dysmetria, Bradykinesia |
ORPHA:157941 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Abnorma... |
ORPHA:3440 |
Proteus Syndrome |
|
Melanocytic nevus, Neoplasm of the central nervous system, Retinal hamartoma, Hamartoma, Abnormal... |
ORPHA:744 |
Autoimmune Hemolytic Anemia |
|
Lymphoma, Hemolytic anemia, Muscle weakness, Dyspnea, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Epistaxis, Juvenile gastr... |
OMIM:175050 |
Lig4 Syndrome |
|
Leukocytosis, Acute leukemia, Abnormality of chromosome stability, Pancytopenia |
ORPHA:99812 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Bronchiectasis, Lymp... |
OMIM:615513 |
Omenn Syndrome |
|
Lymphoma, Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Thyroiditis, Lymph... |
ORPHA:39041 |
Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair |
OMIM:607903 |
Hurler-Scheie Syndrome |
|
Rhinitis, Hernia, Abnormality of the tonsils, Hepatomegaly, Generalized hirsutism, Splenomegaly |
ORPHA:93476 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Pneumonia, Thrombocyto... |
OMIM:209950 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly, Sparse hair |
OMIM:613576 |
Sézary Syndrome |
|
Lymphoma, Alopecia, Splenomegaly, Irregular hyperpigmentation, Neoplasm of the skin, Lymphadenopa... |
ORPHA:3162 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Mismatch Repair Cancer Syndrome 3 |
|
Lymphoma, Astrocytoma, Neoplasm of the rectum, Colon cancer, Multiple cafe-au-lait spots, Lisch n... |
OMIM:619097 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Chromosomal breakage induced by crosslinkin... |
OMIM:620133 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Adrenal calcification, Splenomegaly |
ORPHA:75234 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Fat malabsorption, Jaundice, Wheezing, Epistaxis, Hepatomegaly, Cholelithiasis, Intrah... |
OMIM:211600 |
Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Decreased response to growth hormone stimulation test, Cafe-au-lait spot, Multiple le... |
OMIM:615280 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... |
OMIM:172800 |
Lymphoproliferative Syndrome 2 |
|
Lymphoma, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Lymphoprolifera... |
OMIM:615122 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Mottled pigmentation, Alopecia, Hyperinsulinemia, Flexion contracture, High palate, Brittle hair,... |
OMIM:608612 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... |
OMIM:614072 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Type I diabetes me... |
ORPHA:181 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Inability to walk, Ataxia, Dysmetria, Hirsutism, Poor head control, Sparse hair |
OMIM:618087 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Hyperpigmentation of the ski... |
OMIM:602390 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Cafe-au-lait spot, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular ... |
OMIM:615234 |
Chronic Granulomatous Disease |
|
Malabsorption, Liver abscess, Pyloric stenosis, Chronic pulmonary obstruction, Abnormality of neu... |
ORPHA:379 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Leukopenia, Cirrhosis, Absent fingernail, Hypoplastic ... |
ORPHA:974 |
Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Alopecia, Flexion co... |
ORPHA:801 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... |
OMIM:616860 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Chromosomal bre... |
OMIM:600901 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Progressive hypotrichosis, Abnormality of hair texture, Brittle hair, Nail dyspla... |
OMIM:225060 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Pleural effusi... |
ORPHA:69735 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231226 |
Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Lymphadenopathy, Follicular h... |
OMIM:240500 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Synophrys, Fine hair, Dorsocervical fat pad, Diabetes mellitus, Distal muscle wea... |
ORPHA:391408 |
Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Head titubation, Sparse hair |
OMIM:619691 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Flexion contracture, Tracheobronchomalacia, Asthma, Macroglossia, Abnormality of re... |
OMIM:309900 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231214 |
Follicular Lymphoma |
|
Lymphoma, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphaden... |
ORPHA:545 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Autoimmune hemol... |
OMIM:613011 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Sialuria |
|
High palate, Synophrys, Macroglossia, Inguinal hernia, Hirsutism, Hepatomegaly, Low posterior hai... |
OMIM:269921 |
Prolidase Deficiency |
|
Anemia, High palate, Prolonged neonatal jaundice, Asthma, Chronic lung disease, Recurrent pneumon... |
OMIM:170100 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Multiple joint contractures, Inability to walk, Dysphagia, Facial palsy |
OMIM:128100 |
Whim Syndrome |
|
Papilloma, Verrucae, Lymphadenitis, Abnormality of neutrophil morphology, Cellulitis, Bronchiecta... |
ORPHA:51636 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cel... |
OMIM:613673 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Prolonged G2 pha... |
OMIM:227645 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes |
OMIM:616099 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Pro... |
OMIM:227650 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Impaired neutrophil bactericidal activity, Jaundice, Ataxia, Muscle... |
OMIM:613470 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Hyperpigmentation of the ski... |
OMIM:104100 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin... |
OMIM:263300 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Decreased testicular size, Absent eyelashes, Absent eyebrow, Multiple cafe-au-lait spot... |
OMIM:147770 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
Filippi Syndrome |
|
Hypertrichosis, Frontal hirsutism, Sparse hair, Cryptorchidism |
OMIM:272440 |
Whipple Disease |
|
Respiratory insufficiency, Hypothyroidism, Anemia, Malabsorption, Ataxia, Generalized hyperpigmen... |
ORPHA:3452 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Periungual erythema, Lymphopenia, Nailfold capillary tortuosity, Follicular h... |
OMIM:615934 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Synophrys, Achilles tendon contracture, Thick eyebrow, Sparse hair, Broad-based gait |
OMIM:611091 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Bronchiectasis, Lymphopenia, Autoimmune thrombocytopenia, Au... |
OMIM:616100 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Abnormal posturing, Titubation, Gait disturbance, Dysphagia, Bradykinesia |
ORPHA:225147 |
Typhoid |
|
Ataxia, Epistaxis, Cough, Gastrointestinal hemorrhage, Hepatomegaly, Lethargy, Splenomegaly |
ORPHA:99745 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Generalized hypopigmentation o... |
ORPHA:55 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Enamel hypoplasia, Aplasia/Hypoplasia of the eyebrow, Small nail, Hernia,... |
OMIM:617052 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... |
OMIM:602400 |
Lelis Syndrome |
|
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Perioral hyperpigmentation, Vitilig... |
ORPHA:140936 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia |
ORPHA:884 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Flexion contracture, Inability to walk, Coarse hair, Synophrys, Enlarged kidn... |
OMIM:617303 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Hypogonadism, Absent eyelashes, Absent eyebrow, Multiple cafe-au-lait spots, Cleft pala... |
ORPHA:2316 |
Dermoodontodysplasia |
|
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, ... |
ORPHA:1660 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole... |
OMIM:601847 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hemangioma, Poikilocytosi... |
ORPHA:824 |
Felty Syndrome |
|
Lymphoma, Anemia, Irregular hyperpigmentation, Rhinitis, Cellulitis, Generalized hyperpigmentatio... |
ORPHA:47612 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Esophageal atresi... |
OMIM:227646 |
Alg6-Cdg |
|
Abnormality of the liver, Increased circulating androgen concentration, Jaundice, Macroglossia, A... |
ORPHA:79320 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High anterior hairline, High palate, Congenital diaphragmatic hernia, Polycystic ... |
ORPHA:284180 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Generalized muscle weakness, Hyperinsulinemia, Proximal muscle weakness, Flexion contracture, Pyl... |
OMIM:613327 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Ataxia, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline |
OMIM:616819 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Congenital posterior occipital a... |
ORPHA:79414 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Colorectal polyposis |
ORPHA:160148 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Decreased testicular size, Fine hair, Cleft palate, Sparse hair |
ORPHA:251019 |
Oculocutaneous Albinism Type 1 |
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Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect... |
ORPHA:352731 |
Sarcoidosis, Susceptibility To, 2 |
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Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Emphysema, Pleural effu... |
OMIM:612387 |
Hypotrichosis And Recurrent Skin Vesicles |
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Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey... |
OMIM:613102 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... |
OMIM:300048 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Sparse axillary hair, Congenital generalized lipodystrophy, Sparse facial hair, Generalized lipod... |
OMIM:608154 |
Oculocutaneous Albinism Type 4 |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Neoplasm of the s... |
ORPHA:79435 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Gait ataxia, Hypothyroidism, Truncal ataxia, Fine hair, Delayed puberty, Cryptorchidism, Sparse hair |
OMIM:616817 |
Gaucher Disease, Type I |
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Pulmonary arterial hypertension, Anemia, Hypersplenism, Multiple myeloma, Pancytopenia, Epistaxis... |
OMIM:230800 |
Mucopolysaccharidosis, Type Iiic |
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Splenomegaly, Hernia, Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Dysphagia, Hypertrichosis |
OMIM:252930 |
Budd-Chiari Syndrome |
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Cirrhosis, Malabsorption, Ascites, Jaundice, Cholecystitis, Intestinal obstruction, Gastrointesti... |
ORPHA:131 |
Mast Cell Sarcoma |
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Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Sparse body hair, Sparse scalp hair, Sparse eyelashes, Sparse hair, Slow-growing hair |
OMIM:618535 |
Vici Syndrome |
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Leukopenia, Abnormal posturing, Hypopigmentation of the skin, High palate, T lymphocytopenia, Dec... |
OMIM:242840 |
Scarf Syndrome |
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Enamel hypoplasia, Hepatocellular adenoma, Inguinal hernia, Cryptorchidism, Low posterior hairlin... |
ORPHA:3134 |
Immunodeficiency 7 |
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Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Patchy alopecia, Hepatomegaly, V... |
OMIM:615387 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Broad-base... |
ORPHA:411515 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Colitis, Decreased proportion ... |
OMIM:618394 |
Chédiak-Higashi Syndrome |
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Inability to walk, Iris hypopigmentation, Large clumps of pigment irregularly distributed along h... |
ORPHA:167 |
Rapp-Hodgkin Syndrome |
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Sparse eyebrow, Enamel hypoplasia, Small nail, Velopharyngeal insufficiency, Bifid uvula, Supernu... |
OMIM:129400 |
Fanconi Anemia, Complementation Group B |
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Aplastic anemia, Thrombocytopenia, Abnormality of chromosome stability |
OMIM:300514 |
Immunodeficiency 97 With Autoinflammation |
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Reduced natural killer cell count, Enterocolitis, Monocytopenia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Rhinitis, Absent eyelashes, Absent n... |
OMIM:614941 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Apnea, Inguinal hernia, Meckel diverticulum, Cryptorchidism, Sparse hair |
OMIM:602613 |
Systemic Sclerosis |
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Pulmonary arterial hypertension, Gastroesophageal reflux, Gastrointestinal telangiectasia, Alopec... |
ORPHA:90291 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Hypothyroidism, Cirrhosis, Generalized bronze hyperpigmentation, Cholangiocarcinoma, Hepatocellul... |
ORPHA:465508 |
Rothmund-Thomson Syndrome Type 1 |
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Hypothyroidism, Myelodysplasia, Melanoma, Neoplasm of the skin, Alopecia totalis, Nail dysplasia,... |
ORPHA:221008 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Cirrhosis, Malabsorption, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasi... |
OMIM:602347 |
Fanconi Anemia, Complementation Group U |
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