Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail m... |
ORPHA:2930 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Non-Hodgkin lymphoma, Multiple cafe-au-lait spots, Adenomatous colonic polyposis, Gl... |
OMIM:619101 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, T... |
OMIM:269200 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Myasthenia Gravis |
|
Thymoma, Limb muscle weakness, Fatigable weakness, Proximal muscle weakness, Abnormality of the e... |
OMIM:254200 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Birt-Hogg-Dube Syndrome 1 |
|
Sebaceous hyperplasia, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipo... |
OMIM:135150 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Lymphoid nodular hy... |
ORPHA:210548 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Fatigable weakness, Abnormal leukocyte morphology, Dys... |
ORPHA:169105 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, Thromb... |
OMIM:616435 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Addison Disease |
|
Adrenal calcification, Hypoparathyroidism, Celiac disease, Thymoma, Androgen insufficiency, Vitil... |
ORPHA:85138 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:617243 |
Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Villous atrophy, Chronic hepatitis, Woolly hair, Cirrhosis, Uncombable hair... |
OMIM:614602 |
N Syndrome |
|
Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Alopecia, Nail ... |
OMIM:175500 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate can... |
ORPHA:157794 |
Alpha-Heavy Chain Disease |
|
Alopecia, Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lym... |
ORPHA:100025 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Villous a... |
OMIM:304790 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... |
OMIM:214450 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... |
OMIM:616050 |
Desmoid Tumor |
|
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Abnormality of retinal p... |
ORPHA:873 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... |
ORPHA:251992 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Thymoma, Ophthalmoparesis, Neoplasm, Fatigable weakness, Hashimoto thyroiditis |
OMIM:159400 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia |
ORPHA:2274 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Alope... |
OMIM:606367 |
Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypopigmented skin patches, Cryptorchidism, Hemangioma, Gait disturbance, Curly hair, Intestinal ... |
ORPHA:457485 |
Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... |
ORPHA:388 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... |
ORPHA:480536 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... |
ORPHA:2722 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
Thymoma, Familial |
|
Thymoma, Neoplasm |
OMIM:274230 |
Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... |
ORPHA:71505 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Lymphoma, Jejunitis, Microcytic anemia, Abnormal s... |
ORPHA:398063 |
Lynch Syndrome |
|
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... |
ORPHA:144 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphoma, Panc... |
OMIM:614700 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... |
ORPHA:247806 |
Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... |
ORPHA:99818 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Villous atrophy, Recurrent infection of the gastrointestinal ... |
OMIM:256500 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Abnormal large intestine morphology, Irregular hyperpigmentation, Lymphoma, Cap... |
ORPHA:109 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Alopecia, Central heterochromia, Decreased response to growth hormone sti... |
OMIM:275400 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Juvenile Polyposis Syndrome |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... |
ORPHA:2929 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Colon cancer, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, ... |
OMIM:608615 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... |
ORPHA:247798 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... |
ORPHA:90362 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair |
OMIM:601553 |
Syndromic Diarrhea |
|
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Abnormality of the liver, Vil... |
ORPHA:84064 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... |
ORPHA:1818 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Joint contracture of the hand, Small nail, Villous atrophy, Nail dysplasia, High pal... |
OMIM:601110 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... |
ORPHA:2869 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Sparse hair, Lipoatrophy, Intestinal hypoplasia |
ORPHA:2301 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morpholo... |
ORPHA:95427 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Villous atrophy, Splenomegaly, Lipodystrophy, Hepatomegaly |
OMIM:608776 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Hypermelanoti... |
OMIM:175200 |
Familial Adenomatous Polyposis 1 |
|
Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Keloids, Adrenocortical ade... |
OMIM:175100 |
Piebald Trait-Neurologic Defects Syndrome |
|
Neoplasm of the skin, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow m... |
ORPHA:2885 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Hyperinsu... |
OMIM:602579 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Onychogryposis, Duodenitis, Paronychia |
OMIM:614328 |
Dystonia 31 |
|
Difficulty walking, Dysphagia, Abnormal posturing |
OMIM:619565 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... |
ORPHA:733 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... |
OMIM:614162 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Inguinal hernia, Cryptorchidism, Gait disturbance, Ataxia, Sparse hair |
ORPHA:1174 |
Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Abnormality of the liver, Intestinal polyposis, Vestibular sch... |
ORPHA:252164 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Cryptorchidism, Muscle weakness, Sparse body hair |
ORPHA:85274 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... |
ORPHA:1008 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Multiple cafe-au-lait spots, Colon... |
OMIM:619096 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Trichohepatoenteric Syndrome 1 |
|
Bifid uvula, Hepatic fibrosis, Fine hair, Trichorrhexis nodosa, Cholestasis, Villous atrophy, Cur... |
OMIM:222470 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Kondoh Syndrome |
|
Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture, Sparse hair... |
OMIM:606242 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair |
OMIM:619692 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Cowden Syndrome 7 |
|
Trichilemmoma, Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Hem... |
OMIM:616858 |
Cowden Syndrome 1 |
|
Thyroiditis, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Lymph... |
OMIM:158350 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Familial Melanoma |
|
Abnormal hair morphology, Neoplasm of the pancreas, Abnormality of the lymphatic system, Melanoma... |
ORPHA:618 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Hypopigmentation of the skin,... |
OMIM:276300 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogona... |
ORPHA:3363 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes |
OMIM:227260 |
Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Apnea, Stomach cancer, Myelodysplasia, Nephroblastom... |
ORPHA:1052 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... |
OMIM:615108 |
Cowden Syndrome 6 |
|
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of th... |
OMIM:615109 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... |
ORPHA:92050 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a... |
OMIM:619510 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, ... |
OMIM:557000 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatic fibrosis, Muscle weakness, Villous atrophy, Hepatic steatosis, Dysmetria, Abnorma... |
OMIM:212065 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Atrophic scars, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, ... |
ORPHA:79402 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Fatigable weakness, Diaphragmatic paralysis |
ORPHA:99868 |
Cowden Syndrome |
|
Neoplasm of the skin, Follicular thyroid carcinoma, Hypopigmented skin patches, Melanoma, Adenoma... |
ORPHA:201 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Abnormal posturing, Inguinal hernia, Cryptorchidism, Tachypnea, Lethargy... |
OMIM:614857 |
Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Spotty hyperpigmentation, Atrophic scars, Low anterior hairline, Absent e... |
ORPHA:79133 |
Griscelli Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,... |
ORPHA:381 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Apocrine hidrocystoma, Small nail, Sparse body hair, Ridged nail, Narrow nail, Nail dystr... |
OMIM:224750 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... |
ORPHA:97261 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma |
ORPHA:289596 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... |
ORPHA:1808 |
Ataxia-Telangiectasia |
|
Ataxia, Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Neoplasm, Type ... |
ORPHA:100 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... |
ORPHA:2221 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Villous atrophy, Hypogonadotropic hypogonadism, De... |
OMIM:600955 |
Gaucher Disease Type 2 |
|
Respiratory distress, Splenomegaly, Ophthalmoplegia, Hepatomegaly, Flexion contracture, Dysphagia |
ORPHA:77260 |
Immunodeficiency 54 |
|
Chromosome breakage, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Camptodact... |
ORPHA:2251 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... |
ORPHA:895 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... |
OMIM:114500 |
Familial Adenomatous Polyposis 3 |
|
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... |
OMIM:616415 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Nephroblastoma, Pretibial hyperpigm... |
OMIM:617174 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Chronic noninfectious lymphade... |
ORPHA:97290 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... |
ORPHA:2198 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... |
OMIM:617100 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Exosto... |
ORPHA:113 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Ungual fibroma, Abnormal fingernail morpholog... |
ORPHA:1433 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villo... |
ORPHA:391487 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
Mhc Class Ii Deficiency 1 |
|
Villous atrophy, Biliary tract abnormality, Cholangitis, Neutropenia, Colitis, Viral hepatitis |
OMIM:209920 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased intestinal transit time, Villous atroph... |
OMIM:619377 |
Piebaldism |
|
Neoplasm of the skin, Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglion... |
ORPHA:2884 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... |
ORPHA:59303 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Spastic gait, Adenomatous colonic polyposis, Duodenal polyposis, Low posteri... |
ORPHA:261584 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... |
OMIM:277580 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Classic Mycosis Fungoides |
|
Neoplasm of the skin, Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Lymphoma... |
ORPHA:2584 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, S... |
OMIM:618625 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... |
OMIM:613265 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Irregular hyperpigmentation, Neoplasm of the colon, Abnormality of t... |
ORPHA:44890 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Abnormality of chromosome stability |
ORPHA:2268 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Sparse hair, Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic a... |
OMIM:127550 |
Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
Fg Syndrome 3 |
|
Fine hair, Frontal upsweep of hair, Cryptorchidism, Joint contracture, Sparse hair, Pyloric stenosis |
OMIM:300406 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... |
ORPHA:2585 |
Cartilage-Hair Hypoplasia |
|
Basal cell carcinoma, Anal stenosis, Sparse eyebrow, Fair hair, Lymphoma, Fine hair, Lymphopenia,... |
OMIM:250250 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... |
ORPHA:447877 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... |
ORPHA:50944 |
Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy, Bradykinesia |
OMIM:619063 |
Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal... |
ORPHA:1807 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R... |
OMIM:615631 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... |
ORPHA:567983 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro... |
OMIM:614470 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... |
OMIM:619375 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Chromosome breakage |
OMIM:617883 |
Aicardi Syndrome |
|
Precocious puberty, Gastroesophageal reflux, Sparse lateral eyebrow, Intestinal polyposis, Abnorm... |
ORPHA:50 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... |
OMIM:613244 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Perianal derm... |
OMIM:619573 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, Giant melanosomes i... |
OMIM:214500 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ... |
ORPHA:319487 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Reduced subcutaneous adipose tissue,... |
OMIM:612526 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Cholestasis,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Cholestasis,... |
ORPHA:71526 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho... |
OMIM:619164 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair,... |
ORPHA:2183 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... |
ORPHA:2890 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
Medulloblastoma |
|
Ataxia, Total ophthalmoplegia, Medulloblastoma, Dysmetria, Lethargy, Adenomatous colonic polyposi... |
ORPHA:616 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Sparse body hair |
ORPHA:261483 |
Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... |
ORPHA:202 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Hyperpigmentation of the skin, Pili torti, Ba... |
OMIM:301845 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Inability to walk, Hepatic steatosis, Ataxia, Hypopigmentation of hair, ... |
ORPHA:70472 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Abnormal hair whorl, Contracture of the proximal interphalangea... |
ORPHA:2872 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... |
OMIM:613101 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Jejunoileal ulceration, Rectal abscess, Hepatitis, ... |
ORPHA:436252 |
Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchi... |
ORPHA:3051 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... |
ORPHA:99889 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Anemia |
ORPHA:71272 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
High, narrow palate, Sparse hair, Cryptorchidism, Umbilical hernia |
OMIM:273390 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424019 |
Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gr... |
ORPHA:3322 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Immunodeficiency 84 |
|
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Pol... |
ORPHA:116 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Absence of subcuta... |
OMIM:601675 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair |
OMIM:269600 |
Moynahan Syndrome |
|
Hypogonadism, Alopecia, Sparse hair |
ORPHA:2574 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Tip-toe gait, Abnormal posturing, Inability to walk, Gait disturbance, Dy... |
ORPHA:216866 |
Dyskeratosis Congenita |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spars... |
ORPHA:1775 |
Alg9-Cdg |
|
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Villous atrophy, Hepat... |
ORPHA:79328 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Sparse hai... |
ORPHA:261304 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Absent eyebrow, Curly hair, High palate, Sparse hair |
OMIM:615278 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... |
OMIM:300635 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... |
OMIM:619381 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Mandibuloacral Dysplasia |
|
Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa... |
ORPHA:2457 |
Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... |
OMIM:600901 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Abnormal fingernail morphology, Supernumerary nipple, Abnormal toenail morpholo... |
ORPHA:1809 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... |
OMIM:614931 |
Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
X-Linked Sideroblastic Anemia |
|
Anemia, Hyperpigmentation of the skin, Splenomegaly, Muscle weakness |
ORPHA:75563 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Lymphoma, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, In... |
ORPHA:397596 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
Carney Complex, Type 1 |
|
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... |
OMIM:160980 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
Immunodeficiency 115 With Autoinflammation |
|
Verrucae, Lower limb muscle weakness, Intestinal lymphangiectasia, Splenomegaly, Decreased propor... |
OMIM:620632 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Vascular Hyalinosis |
|
Chorioretinal scar, Protein-losing enteropathy, Hematochezia, Premature graying of hair |
OMIM:277175 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Breast aplasia, Intestinal polyposis |
ORPHA:276413 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Anorectal anomaly, Sparse hair |
ORPHA:1839 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... |
OMIM:620367 |
Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Anal atresia, Sparse hair |
OMIM:119580 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobi... |
OMIM:617052 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Elbow flexion contracture, Hypogonadism, Lipodystrophy, Sparse hair, H... |
OMIM:616200 |
Wolman Disease |
|
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m... |
ORPHA:75233 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Trichodental Dysplasia |
|
Fine hair, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia |
OMIM:601453 |
Progeroid Syndrome, Petty Type |
|
Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Redu... |
ORPHA:2963 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... |
OMIM:158320 |
Aredyld Syndrome |
|
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... |
ORPHA:1133 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Werner Syndrome |
|
Neoplasm of the oral cavity, Premature graying of hair, Type II diabetes mellitus, White forelock... |
ORPHA:902 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... |
OMIM:227650 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutr... |
ORPHA:79312 |
Hypotrichosis 9 |
|
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... |
OMIM:614237 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... |
ORPHA:523 |
Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow... |
ORPHA:163746 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... |
OMIM:607626 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Loss of ambulation, Neutropenia, Sparse hair, Dysphagia |
OMIM:618253 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... |
ORPHA:440437 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Multiple lentigines, Cryptorchidism, Low posterior hairline, Cu... |
OMIM:613224 |
Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Flexion contrac... |
ORPHA:2850 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Pancytopenia, Chromosomal breakage induced by crosslinking age... |
OMIM:620133 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Sparse eyebrow, Fine hair, Inability to walk, Gait ataxia, Dysmetria, Sparse ey... |
OMIM:617988 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Harderoporphyria |
|
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Hyperpigmentation ... |
OMIM:618892 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph nodes in presence o... |
ORPHA:98813 |
Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
Mismatch Repair Cancer Syndrome 3 |
|
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, Multiple cafe-au-lait spots, Axilla... |
OMIM:619097 |
Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Enamel hypoplasia, Thrombocytopenia, Curly hair, Camptodactyly, Sparse ha... |
OMIM:619980 |
Anauxetic Dysplasia 2 |
|
Small nail, Nail dysplasia, Macroglossia, Flexion contracture, Sparse hair |
OMIM:617396 |
Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
Even-Plus Syndrome |
|
Highly arched eyebrow, High palate, Anal atresia, Sparse hair, Synophrys |
OMIM:616854 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... |
OMIM:615234 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Sparse eyebrow, Reduced hair sulfur content, Panhypopituitarism, Decreased test... |
OMIM:300953 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Abnormality of chromosome stability |
ORPHA:99812 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Bradykinesia |
ORPHA:157941 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Hemochromatosis, Type 1 |
|
Alopecia, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepato... |
OMIM:235200 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Hepatomegaly, Visceromegaly, Polycythemia, Ascites... |
ORPHA:2905 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Thick hair, Ataxia, H... |
OMIM:613489 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Bone marrow hypocellularity, Alopecia, Oral leukoplakia, Nail dystrophy, Abnormality of skin pigm... |
OMIM:616353 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Sézary Syndrome |
|
Neoplasm of the skin, Alopecia, Irregular hyperpigmentation, Lymphoma, Abnormal lymphocyte morpho... |
ORPHA:3162 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Multiple lentigines, Alopecia of scalp, Sp... |
OMIM:615280 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair, Enamel hypoplasia |
OMIM:613576 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... |
ORPHA:848 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Inability to walk, Dysmetria, Hirsutism, Ataxia, Poor head control, Sparse hair |
OMIM:618087 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix |
ORPHA:75234 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anter... |
ORPHA:181 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven... |
OMIM:175050 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Mottled pigmentation, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, H... |
OMIM:608612 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Fine hair, Dorsocervical fat pad, Low anterior hairline, Hypothyroidism, Delaye... |
ORPHA:391408 |
Piebald Trait |
|
Partial albinism, Neoplasm, White forelock, Absent pigmentation of the ventral chest, Heterochrom... |
OMIM:172800 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Head titubation, Sparse hair |
OMIM:619691 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Umbilical hernia, Hypersplenism, Absent toenail, Inguinal hernia, Splenomegal... |
OMIM:616028 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Lethargy, Cirrhosis, Hyperpigmentation ... |
OMIM:602390 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Inability to walk, Multiple joint contractures, Facial palsy, Dysphagia |
OMIM:128100 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Umbilical hernia, Type II dia... |
ORPHA:870 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
Lelis Syndrome |
|
Yellow nails, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpigmentation, Nail... |
ORPHA:140936 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Bloom Syndrome |
|
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Sparse eyelashes, Abnormal proportio... |
ORPHA:125 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis |
OMIM:612591 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy, Tachypnea, Nailfold capillary to... |
OMIM:615934 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... |
OMIM:104100 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Muscle weakness, Splenomegaly, ... |
OMIM:613470 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Decreased testicular size, High palate, Sparse hair, Cleft palate |
ORPHA:251019 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... |
OMIM:227645 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Revesz Syndrome |
|
Bone marrow hypocellularity, Broad-based gait, Ridged fingernail, Aplastic anemia, Oral leukoplak... |
OMIM:268130 |
Filippi Syndrome |
|
Frontal hirsutism, Sparse hair, Cryptorchidism, Hypertrichosis |
OMIM:272440 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Thick eyebrow, Achilles tendon contracture, Sparse hair, Synophrys |
OMIM:611091 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Colorectal polyposis |
ORPHA:160148 |
Proteus Syndrome |
|
Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Visceral angiomat... |
ORPHA:744 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Gait ataxia, Titubation, Gait disturbance, Bradykinesia, Dysphagia |
ORPHA:225147 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair |
ORPHA:1810 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... |
OMIM:601847 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Omenn Syndrome |
|
Alopecia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eos... |
ORPHA:39041 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
Alg6-Cdg |
|
Protein-losing enteropathy, Puberty and gonadal disorders, Abnormality of the liver, Jaundice, At... |
ORPHA:79320 |
Dermoodontodysplasia |
|
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp... |
ORPHA:1660 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Prolonged neonatal jaundice, Sparse hair, Delayed puberty, Anterior hypopituitarism |
ORPHA:631 |
Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, Ma... |
ORPHA:284180 |
Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hernia, Hepatomegaly, Dysphagia, Synophrys |
OMIM:252930 |
Immunodeficiency 7 |
|
Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphade... |
OMIM:615387 |
Woolly Hair Nevus |
|
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... |
ORPHA:79414 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphoma, Lymp... |
ORPHA:436159 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophilia, Hepatom... |
ORPHA:98849 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... |
OMIM:612714 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Hypoplastic fingernail, Ascites, Leukopenia, Portal hypert... |
ORPHA:974 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Ataxia, Hypopigmentation o... |
ORPHA:411515 |
Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Coarse hair, Respiratory distress, Inability to walk, Leukopenia, Lo... |
OMIM:617303 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Hypogonadism, Absent eyelashes, Facial palsy, Absent eyebrow, Multiple cafe-au-lait spo... |
ORPHA:2316 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Muscle weakness, Respiratory distress, Splenomegaly, Macrocyti... |
OMIM:615512 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Ataxia, Sparse hair |
OMIM:616819 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Generalized lipodystrophy, Sparse facial hair, Sparse axillary hair, Congenital generalized lipod... |
OMIM:608154 |
Kasabach-Merritt Phenomenon |
|
Neoplasm of the skin, Hypopnea, Microangiopathic hemolytic anemia, Capillary hemangioma, Respirat... |
ORPHA:2330 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... |
OMIM:300048 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse body hair, Ascites, Abnormality of the lymphatic system, Absent eyelashes, Absen... |
ORPHA:69735 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... |
OMIM:615122 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Neoplasm of the skin, Generalized hypopigmentation of hair, Actinic kerato... |
ORPHA:352731 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Gait ataxia, Cryptorchidism, Hypothyroidism, Delayed puberty, Truncal ataxia, Sparse hair |
OMIM:616817 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair |
OMIM:618535 |
Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Neoplasm of the skin, Hypopigmentation of the skin, White hair, Ocular alb... |
ORPHA:79435 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Cryptorchidism, Low posterior hairline, Hypoplastic nipples, E... |
ORPHA:3134 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... |
OMIM:613102 |
Vici Syndrome |
|
Albinism, Hypopigmentation of the skin, Abnormal posturing, Ocular albinism, Lymphopenia, Leukope... |
OMIM:242840 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Ileus, Splenomegaly, Hepatic steatosis, Hirsutism, Generalized muscle weakness,... |
OMIM:613327 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Sparse hair, Sparse eyebrow |
ORPHA:884 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... |
ORPHA:79501 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Abnormality of the... |
ORPHA:2070 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy |
ORPHA:66661 |
Rapp-Hodgkin Syndrome |
|
Sparse hair, Bifid uvula, Sparse eyebrow, Velopharyngeal insufficiency, Decreased number of sweat... |
OMIM:129400 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Flexion contracture, Sparse hair, Dysphagia, High palate |
OMIM:620001 |
Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Respiratory distress, Ascites, Splenomegaly, Hepatomegaly |
ORPHA:2414 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Portal ... |
ORPHA:774 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, ... |
OMIM:603909 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Cholestasis, Decreased circulating T4 concentration, Ascites, Cryptor... |
OMIM:608104 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... |
OMIM:618935 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm... |
OMIM:174900 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam... |
ORPHA:3253 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying ... |
OMIM:612199 |
Monosomy 22 |
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Contractures of the large joints, Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, A... |
ORPHA:96123 |
Oculocutaneous Albinism Type 1B |
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Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Squamous cell carcinoma of the ski... |
ORPHA:79434 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
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Sparse hair, Ankle flexion contracture, Coarse hair |
OMIM:619985 |
Sialuria |
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Inguinal hernia, Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplas... |
OMIM:269921 |
Oculocutaneous Albinism Type 2 |
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Iris hypopigmentation, Hypopigmentation of the skin, White hair, Cutaneous melanoma, Squamous cel... |
ORPHA:79432 |
Hypotrichosis 8 |
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Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Menkes Disease |
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Alopecia, Hypopigmentation of the skin, Brittle hair, Poor head control, Sparse hair |
OMIM:309400 |
Hypotrichosis 13 |
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Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Hypo... |
ORPHA:465508 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... |
OMIM:308240 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Iris hypopigmentation, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Hypopigmentation ... |
ORPHA:177910 |
Eem Syndrome |
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Absent eyebrow, Abnormality of retinal pigmentation, Sparse scalp hair, Sparse body hair |
ORPHA:1897 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... |
OMIM:616100 |
Hereditary Spherocytosis |
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Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Familial Pancreatic Carcinoma |
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Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... |
ORPHA:1333 |
Rothmund-Thomson Syndrome Type 1 |
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Neoplasm of the skin, Aplastic anemia, Alopecia totalis, Cryptorchidism, Melanoma, Neutropenia, B... |
ORPHA:221008 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Cellulitis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsutism, Lipodystr... |
ORPHA:2348 |
Adams-Oliver Syndrome 6 |
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Hepatic fibrosis, Portal hypertension, Splenomegaly, Hypoplastic toenails, Esophageal varix |
OMIM:616589 |
Carney Complex |
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Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Oculoskeletodental Syndrome |
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Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Cryptorchidism, Low anterior... |
OMIM:618440 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Inguinal hernia... |
OMIM:235255 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Premature grayi... |
OMIM:613989 |
Acrofacial Dysostosis, Palagonia Type |
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High, narrow palate, Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashe... |