Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Striate Palmoplantar Keratoderma |
|
Abnormal hair morphology, Abnormality of the nail |
ORPHA:50942 |
Keratosis Palmoplantaris Striata Iii |
|
Abnormal hair morphology, Abnormality of the nail |
OMIM:607654 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... |
OMIM:133180 |
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis, Congenital Generalized, 2 |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy |
|
Hypertrichosis |
OMIM:620470 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia |
OMIM:608898 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615703 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ... |
ORPHA:443167 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... |
ORPHA:1808 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... |
OMIM:614470 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Increased LDL cholestero... |
OMIM:278000 |
N Syndrome |
|
Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... |
OMIM:616871 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia |
OMIM:614743 |
Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin |
OMIM:235900 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... |
ORPHA:98827 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... |
ORPHA:79140 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... |
OMIM:620044 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... |
OMIM:619151 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund... |
OMIM:603552 |
Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Acute myeloid leukemia |
OMIM:616604 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... |
ORPHA:2969 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... |
OMIM:614931 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... |
OMIM:300635 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ... |
OMIM:276300 |
Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... |
ORPHA:404 |
Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... |
ORPHA:403 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plas... |
ORPHA:79237 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Myelodyspla... |
OMIM:614742 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... |
ORPHA:263501 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N... |
ORPHA:486 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... |
ORPHA:3318 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, H... |
ORPHA:412 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Testicular seminoma, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit... |
ORPHA:77296 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis |
OMIM:254450 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Cirrhosis... |
ORPHA:528 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:264580 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... |
ORPHA:158061 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t... |
OMIM:616005 |
Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi... |
OMIM:616222 |
Laron Syndrome |
|
Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary ... |
ORPHA:251274 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, ... |
ORPHA:99812 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... |
OMIM:300972 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated... |
ORPHA:79240 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... |
ORPHA:99818 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertr... |
OMIM:615812 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:275761 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... |
OMIM:308240 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... |
OMIM:619858 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... |
OMIM:201400 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon... |
ORPHA:90790 |
Ataxia-Telangiectasia |
|
Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count... |
OMIM:208900 |
Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... |
ORPHA:507 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa... |
ORPHA:90674 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Thromboc... |
OMIM:606593 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C... |
ORPHA:470 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Abnormal circulating renin, Hyperaldosteronism, Adrenal hyperplasia |
ORPHA:369929 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Thrombocyto... |
ORPHA:96181 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceri... |
OMIM:151660 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis |
ORPHA:79456 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut... |
OMIM:601399 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... |
OMIM:603553 |
Proteus Syndrome |
|
Rib exostoses, Exostosis of the external auditory canal, Visceral angiomatosis, Neoplasm of the c... |
ORPHA:744 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... |
OMIM:202010 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia, Cryptorchidism, Supernumerary nipple |
OMIM:619951 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Pancreatic hypoplasia, Increased... |
ORPHA:811 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia |
ORPHA:71493 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia |
ORPHA:48104 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Hyperinsulinemi... |
ORPHA:2457 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Increased hepa... |
ORPHA:79259 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:613224 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he... |
OMIM:619644 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemi... |
ORPHA:292 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Lymphadenopat... |
ORPHA:33226 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia |
ORPHA:404443 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... |
ORPHA:636 |
Bloom Syndrome |
|
Neoplasm of the skin, Recurrent tonsillitis, Lymphoma, Malignant genitourinary tract tumor, Neopl... |
ORPHA:125 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia... |
OMIM:227645 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... |
OMIM:301078 |
Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... |
OMIM:619471 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... |
ORPHA:906 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder |
ORPHA:100924 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
Sweet Syndrome |
|
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas... |
ORPHA:3243 |
Down Syndrome |
|
Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Abnormality of the lympha... |
ORPHA:870 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... |
OMIM:257200 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Hypogonadism, Cryptorchidism, Melano... |
ORPHA:221008 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... |
OMIM:603554 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelodysplasia |
ORPHA:729 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... |
ORPHA:95699 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly |
OMIM:615122 |
Bloom Syndrome |
|
Lymphoma, Type II diabetes mellitus, Cryptorchidism, Squamous cell carcinoma, Leukemia, Elevated ... |
OMIM:210900 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration |
ORPHA:353 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Cryptorchidism, Melanoma, ... |
ORPHA:221016 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,... |
OMIM:620430 |
Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
Prader-Willi Syndrome |
|
Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone... |
OMIM:176270 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Embryonal rhabdomyosarcoma, Cryptorchidism, Nephroblastoma |
OMIM:257300 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Pulmonary carcinoid tumor, Hypercholesterolemia, Hype... |
ORPHA:363618 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperlipidemia, Hypercholesterolemia, Calc... |
OMIM:248370 |
Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... |
ORPHA:96253 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma |
OMIM:610832 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... |
ORPHA:2909 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... |
OMIM:118450 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo... |
ORPHA:647 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,... |
OMIM:305000 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... |
ORPHA:99889 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... |
ORPHA:1052 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:167 |
Idiopathic Hypereosinophilic Syndrome |
|
Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Myelody... |
ORPHA:3260 |
Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
Dubowitz Syndrome |
|
Lymphoma, Neoplasm, Cryptorchidism, Anemia, Thrombocytopenia, Hypoparathyroidism, Abnormality of ... |
ORPHA:235 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Lymphopenia, Abnormal natural killer cell count |
OMIM:612782 |
17Q11 Microdeletion Syndrome |
|
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... |
ORPHA:97685 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, B-cell lymphoma, Monoclonal immunoglobulin M proteinemia, Multiple my... |
ORPHA:91139 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... |
OMIM:102700 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice... |
OMIM:257220 |
H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Hypogonadism, Delayed puberty, ... |
ORPHA:168569 |
Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Graves ... |
ORPHA:227982 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Noonan Syndrome 2 |
|
Leukemia, Acute lymphoblastic leukemia, Cryptorchidism |
OMIM:605275 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Chalazion |
OMIM:613355 |
Dubowitz Syndrome |
|
Aplastic anemia, Lymphoma, Cryptorchidism, Neuroblastoma, Acute lymphoblastic leukemia |
OMIM:223370 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Cryptorchidism, Splenomegaly |
OMIM:613563 |
Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Type I ... |
ORPHA:227990 |
Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Hy... |
ORPHA:39812 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm, Mediastinal lymphadenopathy |
ORPHA:1546 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis |
ORPHA:86884 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Annular pancreas, Streak ovary, Ependymoma, Teratoma, Nephroblastoma, Fac... |
ORPHA:798 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Bilateral cryptorchidism, Capillary hemangioma, Neoplasm, Cryptorchidism, Prema... |
OMIM:180849 |
Ellis Van Creveld Syndrome |
|
Acute leukemia, Cryptorchidism |
ORPHA:289 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice, Bone-m... |
OMIM:607625 |
Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:273 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Hyperammonemia, Splen... |
OMIM:222700 |
Down Syndrome |
|
Hypothyroidism, Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... |
OMIM:612541 |
Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormality of the spleen, Delayed menarche, Cryptorchidism, Ab... |
ORPHA:648 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased serum insulin-like ... |
ORPHA:77293 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Hypothyroid... |
ORPHA:51 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:609942 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hypoplastic nipples, Hydrocele testis, Acute lymphoblastic leukemia |
OMIM:280000 |
Poland Syndrome |
|
Acute leukemia, Cryptorchidism, Diabetes mellitus, Neoplasm of the breast, Retinal hamartoma |
ORPHA:2911 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233710 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem... |
ORPHA:83471 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cryptorchidism |
OMIM:214110 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233690 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Type I diabetes mellitus, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Monosomy 22 |
|
Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic ... |
ORPHA:96123 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Adrenal gland dysgenesis |
OMIM:236680 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Cryptorchidism, Elevated circulating creatine kinase c... |
OMIM:309000 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hashimoto thyroiditis,... |
ORPHA:436252 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, ... |
OMIM:306400 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Listeriosis |
|
Brain abscess, Abscess, Cholecystitis, Peritonitis, Hepatic granulomatosis, Granulomatosis, Splen... |
ORPHA:533 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... |
ORPHA:2968 |
Doors Syndrome |
|
Congenital hypothyroidism, Adrenal hyperplasia, Thrombocytosis |
ORPHA:79500 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hepatoblastoma, Hypothyroidism, Thrombocytos... |
ORPHA:84064 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thrombocytopenia,... |
OMIM:163950 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Multiple enchondroma... |
ORPHA:861 |
Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cryptorchidism, Cholesteatoma, Astrocytoma, Hemangioma, Hypo... |
ORPHA:821 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Granulomatosis, Elevated circulating C-reactive protein concentration, Diabetes ins... |
ORPHA:900 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Hyperthyr... |
ORPHA:567 |
Granulomatosis With Polyangiitis |
|
Granulomatosis |
OMIM:608710 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Lymph... |
ORPHA:99646 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level |
OMIM:264090 |