Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... |
OMIM:618963 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... |
OMIM:608971 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necr... |
OMIM:231100 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... |
ORPHA:33402 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis, Anemia |
ORPHA:158014 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Sandhoff Disease, Adult Form |
|
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... |
ORPHA:309169 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections,... |
OMIM:615285 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Right ventricular fa... |
ORPHA:100093 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... |
OMIM:251880 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Increased circulating... |
ORPHA:139507 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration... |
OMIM:616050 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... |
ORPHA:169160 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Prolonged QT interval, E... |
ORPHA:71212 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:605911 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr... |
ORPHA:64743 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... |
OMIM:209950 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:201475 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Neut... |
ORPHA:79312 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Neutropenia,... |
ORPHA:289916 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Jaun... |
OMIM:603552 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... |
OMIM:620357 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... |
ORPHA:79124 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Tremor, Splenomegaly, Rigidity, Feeding difficulties,... |
OMIM:615010 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia... |
OMIM:607594 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... |
OMIM:613101 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Microvesicular hepatic steatosis, Hepatocellular necrosis, Chronic hemolytic anemia... |
OMIM:618278 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Ataxia, Failure t... |
ORPHA:263501 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, Arthritis... |
OMIM:601457 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chro... |
OMIM:616740 |
Preeclampsia |
|
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo... |
ORPHA:275555 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... |
ORPHA:99828 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Recurr... |
OMIM:229050 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage... |
ORPHA:507 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... |
OMIM:618495 |
Rabies |
|
Nausea and vomiting, Cerebral palsy, Sudden cardiac death, Anorexia, Recurrent pharyngitis, Diarr... |
ORPHA:770 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Ataxia, Abnormal cytokine signaling... |
ORPHA:158048 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholesterolemia, Anem... |
OMIM:610539 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytop... |
OMIM:610329 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... |
OMIM:603554 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hype... |
ORPHA:27 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial in... |
OMIM:240500 |
Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated ... |
ORPHA:91547 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opport... |
ORPHA:277 |
Ollier Disease |
|
Osteolysis, Anemia, Joint stiffness |
ORPHA:296 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... |
ORPHA:2774 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Rhabdoid Tumor |
|
Nausea and vomiting, Cerebral palsy, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopen... |
ORPHA:69077 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis |
ORPHA:668 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... |
OMIM:616100 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Diarrhea, Sepsis, Decrea... |
ORPHA:33355 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... |
OMIM:618805 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Respir... |
OMIM:121300 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Thrombocytope... |
OMIM:606054 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Feeding difficulties, Limb dystonia, Intermittent diarrhea, Hypertrophic... |
OMIM:620270 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... |
OMIM:612964 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho... |
ORPHA:75234 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Meningitis, Inf... |
OMIM:267700 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage |
ORPHA:1980 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, S... |
OMIM:613280 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abdo... |
ORPHA:2494 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... |
OMIM:230400 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Ataxia, Tremor, ... |
ORPHA:99745 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... |
ORPHA:67 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Severe varicella zos... |
OMIM:616433 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp... |
ORPHA:673 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Abnormal bl... |
ORPHA:90062 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pure red cell aplasia, Recurrent viral infections, Tremor, Otitis media, Hypouricemia,... |
OMIM:613179 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... |
OMIM:618108 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepat... |
OMIM:603553 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia |
OMIM:189800 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, ... |
ORPHA:247691 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level, Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Failure to t... |
OMIM:615207 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... |
OMIM:615592 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Intracranial hem... |
ORPHA:49566 |
Leigh Syndrome |
|
Ataxia, Hepatocellular necrosis, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
OMIM:607765 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Abdominal... |
ORPHA:2070 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Diarrhea, Decreased cir... |
OMIM:226300 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:454836 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... |
OMIM:231530 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... |
OMIM:601847 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failu... |
OMIM:615863 |
Babesiosis |
|
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Myocardial infarction, Anorexia, Congestive ... |
ORPHA:108 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... |
OMIM:610333 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... |
ORPHA:276435 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis... |
OMIM:127550 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... |
OMIM:615617 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Failure to thrive, Bleeding requiring red cell transfusion, Conjug... |
OMIM:619484 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Severe... |
OMIM:615387 |
Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow... |
ORPHA:47612 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Recurrent skin infections, Tremor, Decreased circulating IgA level, Decreased ... |
OMIM:617744 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... |
OMIM:618048 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive,... |
OMIM:613489 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Elevated circulatin... |
OMIM:614576 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Atopic dermatitis, Retinal neovascularization |
OMIM:619074 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... |
OMIM:615767 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... |
ORPHA:247598 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema... |
OMIM:619510 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopeni... |
OMIM:301080 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... |
ORPHA:39812 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thromboc... |
ORPHA:292 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin... |
ORPHA:542323 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Abdominal pain, Thrombocytopen... |
ORPHA:83313 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... |
ORPHA:75564 |
Brunner Syndrome |
|
Diarrhea, Kinetic tremor |
OMIM:300615 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Diarrhea, Vestibular areflexia, At... |
ORPHA:3240 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia |
ORPHA:324964 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
B4Galt1-Cdg |
|
Abnormal bleeding, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transamin... |
ORPHA:79332 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase ... |
ORPHA:54057 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Elevated hepatic transaminase, Methylmalonic acidemia, Vomiting, Dystonia,... |
ORPHA:289504 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Shigellosis |
|
Anorexia, Abnormal blood ion concentration, Uveitis, Sepsis, Paralytic ileus, Bloody diarrhea, Hy... |
ORPHA:810 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... |
OMIM:615758 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... |
ORPHA:79085 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Tubulointerstitial n... |
OMIM:251000 |
Snakebite Envenomation |
|
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardio... |
ORPHA:449285 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Ataxia, Poor appetite, Reye syndrome-like episodes, Hyperglut... |
ORPHA:927 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Short stature, Primary amenorrhea |
OMIM:617690 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures |
ORPHA:52430 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... |
OMIM:616719 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Abdominal distention, Elevated circulat... |
OMIM:608104 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Leukopen... |
ORPHA:319213 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Chroni... |
OMIM:614602 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abn... |
ORPHA:3226 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased beta-glucocerebrosidase le... |
OMIM:231000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... |
OMIM:615895 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... |
OMIM:619203 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... |
ORPHA:37042 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... |
OMIM:614307 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ... |
OMIM:619665 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Diarrhea, An... |
ORPHA:858 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... |
OMIM:615846 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Cache... |
ORPHA:298 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Tremor, Ton... |
OMIM:159950 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammonemia, Vomiting,... |
OMIM:620137 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Nasogastric tube feeding in infancy, ... |
ORPHA:90117 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... |
ORPHA:167 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Overlap Myositis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Raynaud phenom... |
ORPHA:206572 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... |
ORPHA:264580 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... |
ORPHA:398124 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Thrombocyt... |
ORPHA:905 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... |
ORPHA:90045 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... |
OMIM:193670 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia... |
OMIM:617718 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Elevated circulating ... |
ORPHA:99901 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Neonatal sepsis, Small for gestational age, Abdominal distention, Peritoniti... |
ORPHA:391673 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Malnutrition, Decreased LDL cholesterol concentration, Steatorrhea, ... |
OMIM:246700 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Decreased liver function, Spasticity, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Chr... |
OMIM:617053 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... |
OMIM:301078 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip... |
OMIM:231680 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility |
OMIM:619518 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin |
OMIM:614962 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopenia, Abnormally ... |
OMIM:602450 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... |
OMIM:615673 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... |
ORPHA:1304 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Thrombocytop... |
OMIM:170100 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of th... |
OMIM:614129 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Pericarditis, Ataxia, Anorexia, Abdominal pain, Myocarditis, J... |
ORPHA:549 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Nasogastric tube feeding in infancy, Chorea, Feeding difficulties, Hemiballismus, Frequen... |
ORPHA:494526 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Low alkaline phosphatase, Re... |
OMIM:201100 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Failure to thrive, Diarrhea, Steatorrhea, Hypoalbuminemia, Hepat... |
OMIM:602579 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Skin ... |
OMIM:277380 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Feeding difficulties in infancy, Increased circulating interferon-gamma concentration... |
OMIM:612952 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine concentratio... |
ORPHA:101028 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Sepsis, V... |
ORPHA:94093 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Ataxia, Tremor, Congestive heart failure, Recurrent pneumonia, Neutropenia, Op... |
OMIM:616271 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate de... |
OMIM:210250 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Large vessel vasculitis, Iron deficiency anemia, Inflammation of the la... |
OMIM:301000 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Reduced beta-hexosaminidase activity, Ataxia, Diarrhea, Abnormal pyramidal sign, ... |
ORPHA:309162 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... |
ORPHA:100085 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, D... |
OMIM:275350 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... |
OMIM:208900 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect... |
OMIM:619573 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Increased circulating lactate dehydrogenase concen... |
ORPHA:824 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Dysphagia, Feeding d... |
OMIM:261640 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... |
ORPHA:103909 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased ci... |
ORPHA:381 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... |
ORPHA:71 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus |
OMIM:614018 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia |
OMIM:618387 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Feeding difficultie... |
OMIM:251100 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... |
ORPHA:101330 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Ataxia, Myocardi... |
ORPHA:3452 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Abno... |
ORPHA:263455 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukopenia, Hepatomegaly, Ataxia, Spastic hemiparesis, Leukocytosis, Dilated cardiomyop... |
ORPHA:20 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... |
OMIM:214500 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, Malnutrition, Spastic tetraplegia, Feeding difficulties, Gastroesophageal reflux, Myoclon... |
OMIM:619971 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal circulating enzyme concentration or activity, Tremor, Clumsiness, Hepatosplenomegaly, Ey... |
ORPHA:2590 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Vomiting, Abno... |
ORPHA:470 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dystonia, Clums... |
ORPHA:216873 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Nausea and vomiti... |
ORPHA:525731 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat... |
OMIM:222700 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... |
OMIM:159550 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep... |
OMIM:557000 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal bleeding, Acute myeloid leukemia, Anemia of ... |
ORPHA:86839 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... |
ORPHA:3392 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Increased circulating IgE level, Secretory diarrhea, Hypertension, ... |
OMIM:616069 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Obesity, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of... |
OMIM:615300 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... |
ORPHA:85450 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition... |
ORPHA:95427 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Func... |
ORPHA:90362 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Thrombocytopenia |
ORPHA:2123 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting |
OMIM:260005 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... |
OMIM:619693 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Thrombocytop... |
OMIM:251110 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha... |
OMIM:606159 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Chronic infect... |
ORPHA:520 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal diste... |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Feeding difficulties in infancy, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Vomiting, ... |
OMIM:212065 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... |
ORPHA:254881 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Feeding dif... |
OMIM:613839 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive, Telangiectasi... |
ORPHA:100 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss,... |
ORPHA:79242 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Patent ductus ... |
OMIM:614857 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... |
OMIM:617916 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Tremor, Increased circulating Ig... |
ORPHA:297 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Secretory diarrhea, Bloody diarrhea, Gastroint... |
ORPHA:544482 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating ... |
ORPHA:343 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... |
ORPHA:435651 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit... |
ORPHA:32960 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Chronic infection, Thrombocytopenia, Hepatosplenomegaly, Elevated circulating alka... |
ORPHA:210110 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Chronic infection, High-output cong... |
ORPHA:231226 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Leukocyt... |
OMIM:260920 |
Rift Valley Fever |
|
Anorexia, Uveitis, Increased circulating IgG level, Decerebrate rigidity, Infectious encephalitis... |
ORPHA:319251 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Skin rash, Ataxia, Tremor, Diarrhea, Arrhythmia |
ORPHA:29822 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Hyperglutamatemia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Pa... |
OMIM:620358 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Recurrent ear infections, Tremor, Oromotor apraxia, Gastroesophage... |
ORPHA:300536 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Increased serum zinc |
OMIM:601979 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Alg1-Cdg |
|
Chronic diarrhea, Sepsis, Recurrent infections, Cardiomyopathy, Hypoalbuminemia, Decreased liver ... |
ORPHA:79327 |
Atelis Syndrome 1 |
|
Eczema, Bronchiectasis, Recurrent infections, Anemia, Leukopenia, Feeding difficulties, Hypertoni... |
OMIM:620184 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentra... |
OMIM:185070 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Chorea, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Nausea and vomiting, Cerebral palsy, Skin rash, Ataxia, Abdominal pai... |
ORPHA:36412 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Abdominal pain, Tremor, Abno... |
ORPHA:69665 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Jaundice, Schistocytos... |
OMIM:274150 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Dilated cardiomyopat... |
ORPHA:352447 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Fasciculations |
OMIM:313200 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... |
OMIM:601495 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... |
ORPHA:90153 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocard... |
ORPHA:182050 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abnormal ery... |
ORPHA:100924 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Feeding difficulties, Bloody diarrhea, Cardiomyopathy, Hypertrophic cardio... |
OMIM:615119 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Ataxia, Small for gestational age, Diarrhea, Feeding... |
ORPHA:79325 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Hypertension... |
ORPHA:134 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Small for gestational age... |
OMIM:208085 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... |
OMIM:158330 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Feeding diffic... |
OMIM:253260 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Pneumonia, Thrombocytopenia, Giant platelets, Neutrop... |
ORPHA:238459 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Hyperk... |
OMIM:264350 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100082 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Subcutaneous hemorrhage, Ataxia, Macrothrombocytopenia, Recurrent bacterial... |
OMIM:603585 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo... |
OMIM:177735 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... |
ORPHA:340 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilit... |
ORPHA:35858 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjun... |
ORPHA:533 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis |
ORPHA:809 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Ch... |
ORPHA:231214 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Failure to thrive, Thrombocytopenia, Splenomegaly, Ele... |
OMIM:259700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Decreased liver func... |
OMIM:614867 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Feeding difficulties, Leukopenia, H... |
OMIM:613845 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Increased body weight, Hyperphosphatemia |
ORPHA:94086 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia... |
ORPHA:209964 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Thrombocytopenia, Meningitis, Arthri... |
ORPHA:448237 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... |
ORPHA:240103 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, Thrombocytopenia, Recur... |
OMIM:617303 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Abscess, Ovarian cyst, Splenic cyst, Peritoneal abs... |
ORPHA:400 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... |
OMIM:618093 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Apla... |
OMIM:266810 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Rigidity, Splenomegaly, Oculomotor apraxia, Feeding difficulties, Anemia, Hypertoni... |
OMIM:230900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Abdominal pain, Thrombocytopenia, Peritonit... |
ORPHA:90038 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase co... |
OMIM:614921 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Di... |
ORPHA:1842 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... |
OMIM:608233 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, Dystonia, Decreased body... |
OMIM:607906 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent vir... |
OMIM:617443 |
Glutathionuria |
|
Eczema, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Constipation, Action... |
OMIM:231950 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Hepatomeg... |
ORPHA:100075 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Minimal change glomerulonephritis, Decreased proportion of naive CD8 T cells, Ischem... |
ORPHA:1830 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat... |
ORPHA:79259 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:606528 |
Kaposi Sarcoma |
|
Recurrent herpes, Skin rash, Abnormality of the spleen, Diarrhea, Weight loss, Abnormality of the... |
ORPHA:33276 |
Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Nausea and vomiting,... |
ORPHA:199299 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Spastic diplegia, Anem... |
ORPHA:290 |
Castleman Disease |
|
Nausea and vomiting, Increased circulating interleukin 6 concentration, Intestinal obstruction, E... |
ORPHA:160 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditis, Conges... |
ORPHA:3386 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Gait ataxia, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
H Syndrome |
|
Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodactyly, Histiocytosis |
ORPHA:168569 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100080 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... |
OMIM:142680 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Reduced 3-phosphoglycerate dehydrogenase activity, Spastic tetraplegia, Hyp... |
OMIM:601815 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Hyperlipid... |
ORPHA:31825 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Patent duc... |
OMIM:251290 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... |
ORPHA:388 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Truncal ataxia, Limb ... |
OMIM:208920 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Chronic diarrhea, Rec... |
OMIM:615084 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Congestive heart failure, Dysphagia, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Feeding difficulties, Athetosis, Cardiomyopathy, ... |
OMIM:617710 |
Leptospirosis |
|
First degree atrioventricular block, Anorexia, Uveitis, Meningitis, Hepatomegaly, Abdominal pain,... |
ORPHA:509 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Ataxia, Epistaxis, Abnormality of n... |
ORPHA:33226 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Intention tr... |
ORPHA:221139 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Feeding difficulties in infancy, Thrombo... |
OMIM:225750 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Encephalopathy, Ethylmalonic |
|
Ataxia, Elevated circulating butyrylcarnitine concentration, Babinski sign, Chronic diarrhea, Fee... |
OMIM:602473 |
Noonan Syndrome 12 |
|
Feeding difficulties in infancy, Atopic dermatitis, Lymphopenia, Thrombocytopenia, Supravalvular ... |
OMIM:618624 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... |
ORPHA:677 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... |
ORPHA:49827 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Blephari... |
ORPHA:158029 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619790 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Bowel incontinence, Abdominal pa... |
ORPHA:3299 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Feeding difficulties, Chronic constipation, Hypertonia, Gastroesophageal reflux, Spasticity, Fail... |
OMIM:616577 |
Lassa Fever |
|
Abnormal bleeding, Shock, Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Sepsis, Increa... |
ORPHA:99824 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... |
ORPHA:567983 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Hypermanganesemia, Elevated circulating creatine kinase conc... |
OMIM:617013 |
Familial Dysautonomia |
|
Acrocyanosis, Recurrent fractures, Osteolysis |
ORPHA:1764 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... |
OMIM:608643 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... |
ORPHA:435660 |
Atypical Hemolytic Uremic Syndrome |
|
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Hyperphenylalanin... |
OMIM:233910 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:420741 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, H... |
OMIM:618886 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysp... |
OMIM:607426 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Short stature, Hyp... |
ORPHA:90796 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619473 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Abdominal pain, Microvesicular hepatic steatosis, Secretory di... |
OMIM:619377 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D... |
OMIM:235400 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hemiparesis, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocyto... |
OMIM:615750 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli... |
OMIM:614162 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Decreased circulating total IgM, Ischemic stroke, Hemi... |
OMIM:182410 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Chorea, Dysmetria, Clumsin... |
ORPHA:79263 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Hypoalbuminemia, Hepatic fibrosi... |
ORPHA:14 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... |
OMIM:617765 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Abdominal pain, Discoid lupus rash, Raynaud phenomenon, Diarrhe... |
ORPHA:93552 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hy... |
OMIM:175500 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Dysphagia, Intenti... |
OMIM:254900 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal splee... |
ORPHA:464329 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Right ven... |
ORPHA:90363 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... |
ORPHA:469 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Feeding difficulties, Anemia, Myoclonus, Elevated hepatic iron conc... |
OMIM:614946 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM leve... |
OMIM:242860 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis |
ORPHA:678 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... |
ORPHA:96180 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower... |
OMIM:169400 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology,... |
ORPHA:247768 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... |
OMIM:260400 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia |
OMIM:274240 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstruction, Gastroparesis, Ca... |
OMIM:603041 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Hyp... |
ORPHA:85212 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Decreased small... |
ORPHA:103907 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Ataxia, Elevated circulating C-reactive p... |
ORPHA:50918 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, V... |
OMIM:619991 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... |
ORPHA:853 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Vomiting, Prominent U... |
ORPHA:466677 |
Enteric Anendocrinosis |
|
Diarrhea, Cholestatic liver disease, Vomiting, Portal hypertension |
ORPHA:83620 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Thrombocytopenia, Reticulocytopenia, Neutr... |
ORPHA:101096 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Nausea and vomiting, Paralysis, Leukocytosis, Hashimoto thyroi... |
ORPHA:83601 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Steatorrhea, Recurrent infections, ... |
OMIM:617941 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Decreased mucosal sucrase-isomaltase activity, Abdominal pain |
OMIM:222900 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Syndromic Diarrhea |
|
Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia of the thymus, H... |
ORPHA:84064 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... |
ORPHA:324636 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, First degree atrioventricular block, Abdominal pain, Patent ... |
ORPHA:589821 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Alg12-Cdg |
|
Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Partial abse... |
ORPHA:79324 |
Japanese Encephalitis |
|
Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Vomiting, Men... |
ORPHA:79139 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatin... |
OMIM:615356 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Vomiting, Thrombocytopenia |
OMIM:243500 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Nausea, Tremor, Congestive heart failure, Vocal cord paralysi... |
ORPHA:94080 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Abdominal distention, Hepatosplenomegaly, Neut... |
OMIM:246400 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti... |
ORPHA:97283 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti... |
ORPHA:97278 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia |
ORPHA:85447 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
OMIM:301056 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... |
OMIM:300048 |
Satoyoshi Syndrome |
|
Short stature, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Severe short stature, Primary amenorrhea |
OMIM:614851 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta... |
OMIM:613385 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Chronic diarrhea, Leukopenia, Hepatic fibr... |
OMIM:613989 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology |
OMIM:611890 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Nipah Virus Disease |
|
Nausea and vomiting, Anorexia, Tremor, Recurrent pharyngitis, Myoclonus, Hypotension, Infectious ... |
ORPHA:99825 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp... |
ORPHA:36426 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh... |
ORPHA:188 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Erythroderma, Abnormal lymphoc... |
ORPHA:3162 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Hyperprolinemia Type 2 |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Diarrhea, Hyperprolinemia,... |
ORPHA:79101 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Exaggerated startle response, Incoordinati... |
ORPHA:845 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anorexia, Abdominal pain, Cachexia, Splenomegaly, Diarrhea, Anemia |
ORPHA:2930 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Skin rash, Pancytopenia, Ataxia, Chorea, Dilated cardiomyopath... |
OMIM:618321 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Ataxia, Myocardial infarction, Diarrhea, Babinski sign, Abnormal pyramidal sign,... |
OMIM:213700 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Hyperkalemia, ... |
ORPHA:427 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Cardiomy... |
OMIM:105210 |
Porphyria, Acute Intermittent |
|
Tachycardia, Paralysis, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Respiratory para... |
OMIM:176000 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Ataxia, Tremor, Diarrhea, Uve... |
ORPHA:90321 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Sepsis, Vom... |
ORPHA:2552 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308700 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Clonus, Thrombocytopenia, Leukocytosis,... |
OMIM:259720 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... |
ORPHA:330001 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Recurrent infec... |
ORPHA:88 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... |
ORPHA:454831 |
Acute Intermittent Porphyria |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Tachycardia, Nausea and vomi... |
ORPHA:79276 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Small for gestational age, Abnormal immunoglobulin level... |
OMIM:242900 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Diarrhea, Vomiting, Myoclonus, Failure to thrive |
OMIM:560000 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea |
ORPHA:56425 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Nausea and vomiting, Hypercalcemia, Myo... |
ORPHA:95409 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi... |
ORPHA:99657 |
Scrub Typhus |
|
Abnormal bleeding, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Tremor, Myoc... |
ORPHA:83317 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Diarrhea, Hyperkalemia, Tetraplegia, ... |
ORPHA:361 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Postural tremor, Ataxia, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosi... |
OMIM:301072 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel... |
ORPHA:35710 |
Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Diarrhea, Hypertension, Hypertonia, Myoclonus, Hypotension... |
ORPHA:43116 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277400 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Gastroeso... |
OMIM:249270 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Abnormality of body weight, Incre... |
ORPHA:2298 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Elevated... |
ORPHA:79455 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Bowel incontinence, Tremor, Cardiomyopathy, Fasciculations, Frequent falls, Mildly ... |
ORPHA:329478 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Diarrhea, Vomiting, Elevated total serum tryptase, Nausea |
ORPHA:79457 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-... |
ORPHA:1333 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Gastrointestinal dysmotility, Abnormal pyram... |
ORPHA:2131 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Positive ferric chloride test |
OMIM:250900 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:606002 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase |
ORPHA:397744 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
ORPHA:209335 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... |
ORPHA:447 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Juvenile Polyposis Syndrome |
|
Abdominal pain, Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level, Diarrhea |
OMIM:223000 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia, Recurrent opportunistic infections, Cirrhosis |
OMIM:613987 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... |
OMIM:230800 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Hemiparesis, Leuko... |
ORPHA:974 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia |
ORPHA:35687 |
Adult Intestinal Botulism |
|
Diarrhea, Cerebral palsy, Diaphragmatic paralysis |
ORPHA:178487 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Failure to thrive, Thrombocytosis, Small for gestational age,... |
OMIM:222470 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Bron... |
OMIM:620233 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Reduced beta-hexosaminidase ... |
OMIM:268800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Incoordination, Recurrent infections due to aspiration, Fee... |
OMIM:223900 |
Ethylmalonic Encephalopathy |
|
Ataxia, Diarrhea, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Failure ... |
ORPHA:51188 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Focal dystonia, ... |
ORPHA:52368 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Failure to thrive, Small for gestational age |
OMIM:613217 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Episodic abdominal pain, Hypertension, Interstitial pneumonitis, H... |
ORPHA:330021 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Tremor, Jaundice, Hypertonia, Hypoproteinemia |
OMIM:608093 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature |
OMIM:601076 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Short stature, Amenorrhea |
OMIM:600705 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Classic Phenylketonuria |
|
Nausea and vomiting, Eczema, Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia |
ORPHA:79254 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism, Abnormal upper m... |
OMIM:215470 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Recurrent urina... |
ORPHA:99843 |
Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Failure to thrive, Poor m... |
ORPHA:2203 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Feeding difficulties in infancy, Hyperammonemia, Hypertonia, Vomiting, Thrombocytopenia |
OMIM:253270 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou... |
ORPHA:90060 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Head titubation, Rigidity, Truncal ataxi... |
OMIM:618877 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive |
OMIM:618168 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Diarrhea, Dila... |
OMIM:610768 |
Incontinentia Pigmenti |
|
Eosinophilia, Spina bifida occulta, Camptodactyly of finger, Osteolysis |
ORPHA:464 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti... |
ORPHA:97261 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... |
OMIM:252920 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:505248 |
Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:79330 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Nausea and vomiting, Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Feeding difficul... |
OMIM:616539 |
Foodborne Botulism |
|
Nausea and vomiting, Cerebral palsy, Paralysis, Abdominal pain, Diarrhea, Diaphragmatic paralysis... |
ORPHA:228371 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nep... |
ORPHA:289390 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Chronic constipation, Progressive spasticity... |
OMIM:210000 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Arthritis, Increased... |
ORPHA:228123 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Myoc... |
ORPHA:342 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... |
OMIM:252900 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Functional intestinal obstruction, Tricuspid stenosis, Right ventr... |
ORPHA:100078 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, A... |
ORPHA:77293 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Cardiomyopathy, Dysphagia, Thrombocyt... |
OMIM:222300 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... |
ORPHA:2575 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... |
ORPHA:955 |
Lymphatic Filariasis |
|
Orchitis, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis, Abnormality of th... |
ORPHA:2035 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic movements, Dystonia, Ac... |
OMIM:619738 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp... |
ORPHA:537 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries, Primary amenorrhea, Delayed puberty |
OMIM:615363 |
Cryptococcosis |
|
Lymphoid leukemia, Osteolysis, Osteomyelitis |
ORPHA:1546 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Pancreatic cysts, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Abnormality of the liver... |
ORPHA:254892 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, A... |
OMIM:615710 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology |
ORPHA:353 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis |
OMIM:615122 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... |
OMIM:212350 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Poor appet... |
ORPHA:97287 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Bloody diarrhea, Erythroderma, Failure to thrive, Bleph... |
OMIM:614328 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Botulism |
|
Nausea and vomiting, Cerebral palsy, Abdominal pain, Diarrhea, Diaphragmatic paralysis, Xerostomi... |
ORPHA:1267 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, Pate... |
ORPHA:79076 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Osteoarthritis, Diarrhea, Hand tremor, Constipation, Septic arthritis |
OMIM:608654 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of... |
ORPHA:449432 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic... |
ORPHA:309108 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Pulmonary embolism, Megaloblastic anemia, Jaun... |
ORPHA:79282 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Patent ductus... |
OMIM:617397 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentrat... |
ORPHA:466650 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Small for gestational ag... |
OMIM:606593 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated circulating creatinine concentration, R... |
ORPHA:230 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea... |
OMIM:617052 |
Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp... |
OMIM:308300 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... |
OMIM:252930 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612926 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Hyperlipidemia, Gout, Hypertensio... |
OMIM:232200 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Anemia |
ORPHA:3042 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Constipatio... |
OMIM:619743 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Gastrostomy tube feeding in infancy, Constipation, High nonceruloplasmin-bound serum copper, Limb... |
ORPHA:457351 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, Decerebrate rigidity, Asp... |
ORPHA:354 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Hypoalbuminemia, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation, Dystonia, Spasticity, Nausea |
ORPHA:2828 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Diarrhea, Weight loss, Hypertension, Myoclonus, Failure to thrive, Anemia |
OMIM:256700 |
Cholera |
|
Hyponatremia, Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentrati... |
ORPHA:173 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Spina bifida, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia o... |
OMIM:274000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612924 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... |
OMIM:617788 |
Aa Amyloidosis |
|
Hepatomegaly, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomiting, Hypotension,... |
ORPHA:85445 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia, Feeding difficulties |
ORPHA:370924 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthot... |
OMIM:608013 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Congestive heart failu... |
ORPHA:2331 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Arthritis, Cholestatic l... |
ORPHA:92050 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... |
ORPHA:508542 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia, Feeding difficulties |
OMIM:615597 |
Aicardi-Goutières Syndrome |
|
Myositis, Tremor, Abnormal pyramidal sign, Increased circulating interferon-gamma concentration, ... |
ORPHA:51 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... |
OMIM:616457 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Anemia, Leukopenia, Prol... |
ORPHA:2330 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612925 |
Plague |
|
Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumonia, Inflam... |
ORPHA:707 |
Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea, Bronchiectasis, Vom... |
OMIM:619445 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Glutaric Aciduria Iii |
|
Diarrhea, Hypertension, Vomiting, Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to t... |
OMIM:231690 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Periodic paralysis, Tremor, Weight loss, Hypokalemia |
OMIM:613239 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, D... |
ORPHA:456312 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Spastic tetraplegia, Dysme... |
ORPHA:572798 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Failure to thrive, Tremor, Cong... |
OMIM:615512 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumoni... |
OMIM:219700 |
Smith-Kingsmore Syndrome |
|
Feeding difficulties, Large for gestational age, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... |
ORPHA:99027 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation |
OMIM:614171 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Flexion contracture, Progressive clavicular acroosteol... |
OMIM:608612 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infe... |
OMIM:251260 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous sto... |
OMIM:612782 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-depen... |
OMIM:612132 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... |
ORPHA:168558 |
Mednik Syndrome |
|
Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a... |
OMIM:609313 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... |
ORPHA:67044 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Nausea and vomiting, Hypercalcemia, Ano... |
ORPHA:85138 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Hypercalcemia, Anorexia, Poor appeti... |
ORPHA:97282 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Vomiting, Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, H... |
OMIM:619525 |
Chime Syndrome |
|
Osteolysis, Acute leukemia |
ORPHA:3474 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... |
ORPHA:289548 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrhea, Chronic mucocuta... |
OMIM:240300 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Diarrhea, Bronchiectasis, Weight loss, Disseminated ... |
ORPHA:411703 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Intestinal pseudo-obstruction, Congestive hear... |
OMIM:309900 |
Congenital Disorder Of Glycosylation, Type Id |
|
Spastic tetraparesis, Diarrhea, Hypertonia, Vomiting, Failure to thrive |
OMIM:601110 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... |
OMIM:301220 |
Perry Syndrome |
|
Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension |
ORPHA:178509 |
Melas |
|
Wolff-Parkinson-White syndrome, Abnormal central motor function, Ataxia, Intestinal pseudo-obstru... |
ORPHA:550 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal colic, Nausea and vomiting, Functional int... |
ORPHA:100079 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hypogonadotropic hypogonadism, Short stature, Abnormal external genitalia, Ab... |
ORPHA:90794 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyper... |
ORPHA:79102 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, F... |
OMIM:610505 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Recurrent infections, N... |
OMIM:617827 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul... |
OMIM:248370 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circu... |
ORPHA:2785 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Nausea, Tremor, Congestive heart failure, Vocal cord paralysi... |
ORPHA:276621 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... |
ORPHA:797 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:214700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Intestinal ble... |
OMIM:612199 |
Lathosterolosis |
|
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet... |
ORPHA:46059 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Parotitis |
ORPHA:449427 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progre... |
ORPHA:646 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Iron deficiency anemia, Hypocalcemia, Prominent U wave, Abnormal T-... |
ORPHA:358 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... |
ORPHA:1454 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations |
OMIM:133020 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... |
OMIM:600376 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Failure to t... |
ORPHA:3008 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Secretory diarr... |
OMIM:618183 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Steatorrhea, Recurrent in... |
OMIM:618268 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Spasticity, Diarrhea |
OMIM:300215 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, T... |
ORPHA:2072 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Subarachnoid hemorrhage |
OMIM:277175 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Autoimmune hemolytic anemia, Diarrhea, Coo... |
ORPHA:90035 |
Rapadilino Syndrome |
|
Diarrhea, Feeding difficulties |
OMIM:266280 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Jaundice, Diarrhea, Extrahepa... |
ORPHA:913 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Telangiectasia of the skin, Skin rash, Small for gestational age, Na... |
ORPHA:2909 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Neoplasm of the pan... |
ORPHA:2929 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea |
OMIM:251850 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Ab... |
ORPHA:3385 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Abnormal circulating enzyme concentration or activity, Ataxia, Poor motor coordina... |
ORPHA:25 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Chronic diarr... |
OMIM:619005 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr... |
ORPHA:1578 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Gait ataxia, Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections |
OMIM:300953 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Sialaden... |
ORPHA:449563 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Incoordination, Bowel in... |
ORPHA:512 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea |
OMIM:606824 |
Tangier Disease |
|
Hypertriglyceridemia, Abdominal pain, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocyt... |
ORPHA:31150 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Gastroparesis, Small for gestational age, Tremor, Hyperammonemia, Hypertension, Arrhythmi... |
OMIM:614052 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal ... |
ORPHA:29207 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, Hypertonia, Vo... |
OMIM:300855 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Limitation of joint mobility, Osteolysis, Joint hyperflexibility, Acrocyanosis |
ORPHA:285 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Cerebral palsy, Angina pectoris, Splenomegaly, Ch... |
ORPHA:93473 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Constipation, Dystonia |
OMIM:168600 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, As... |
OMIM:252940 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:614520 |
Inhalational Botulism |
|
Nausea and vomiting, Paralysis, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ... |
OMIM:202010 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Blepharos... |
ORPHA:240071 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Giant platelets, Recurrent infecti... |
OMIM:611209 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Cerebral arteriovenous malformation, High-output congestive heart failure, Congestive ... |
ORPHA:137667 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Clonus, Diarrhea, Babin... |
OMIM:606721 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Hypertriglyceridemia |
ORPHA:280365 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive, Frequent falls |
OMIM:620310 |
Encephalitis Lethargica |
|
Parkinsonism, Bowel incontinence, Recurrent viral infections, Tremor, Increased circulating antib... |
ORPHA:83600 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Hepatic fibrosis, Thrombocytopenia |
OMIM:224230 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Nausea, Tremor, Congestive heart failure, Vocal cord paralysi... |
ORPHA:29072 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Nk-Cell Enteropathy |
|
Abdominal pain, Increased T cell count, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipa... |
ORPHA:263665 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Radiation Proctitis |
|
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia, Rectal abscess, Arteritis |
ORPHA:70475 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... |
ORPHA:1775 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Dysphagia, Feeding difficulties, Hy... |
OMIM:617248 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Large for gestational age, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bru... |
OMIM:610733 |
Alexander Disease |
|
Nausea and vomiting, Ataxia, Clonus, Sudden cardiac death, Bowel incontinence, Tremor, Chorea, Ab... |
ORPHA:58 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... |
OMIM:187300 |
Braddock-Carey Syndrome 1 |
|
Spastic diplegia, Thrombocytopenia |
OMIM:619980 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Increased mean corpuscular vo... |
ORPHA:261250 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Chorea, Cheilitis, Art... |
ORPHA:536 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Dia... |
OMIM:601678 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the g... |
ORPHA:221008 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruisi... |
OMIM:600901 |
Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:257220 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia... |
ORPHA:436252 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thrombocytopenia, Patent ductus arteriosus, Heart murmur, Intracranial hemorr... |
ORPHA:163979 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Chronic diarrhea, Recurrent infections, Telang... |
OMIM:601675 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia |
OMIM:617914 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Paralysis, Diarrhea, Hypokalemia, Vomiting, Constipation, Failur... |
ORPHA:18 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Patent ductus arteriosus, Recurrent infections, Pulmonic ... |
OMIM:616737 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruisi... |
OMIM:227650 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Elevated maternal serum alpha-fetoprotein |
OMIM:226730 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Disproportionate short-limb short statu... |
OMIM:609441 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Tremor, Splenomegaly, Hypophosphatemia, Hypocalce... |
ORPHA:667 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones |
ORPHA:97685 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Patent ductus arteriosus, Dysmetria, Supravalvar pulmonary stenosis, Vitreous h... |
OMIM:620185 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, Low-to-n... |
OMIM:241200 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections,... |
OMIM:223370 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Diarrhea... |
ORPHA:139411 |
Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Chronic diarr... |
OMIM:619004 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Turcot Syndrome With Polyposis |
|
Ataxia, Abdominal pain, Diarrhea, Hematochezia, Melena, Vomiting, Constipation, Hepatoblastoma, L... |
ORPHA:99818 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Severe postnatal growth retardation, Aplasia of the uterus, Vag... |
ORPHA:2237 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux,... |
ORPHA:567 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Anemia, Recurrent otitis media, Th... |
ORPHA:261323 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder... |
ORPHA:99921 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Prostatitis, Eosinophilia |
ORPHA:449395 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Ataxia, Aplastic anemia, Leukopenia, Thrombocytopenia |
OMIM:613990 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite, Weight loss |
ORPHA:2221 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Patent ductus arteriosus, Annular pancreas, Reticulocyto... |
OMIM:227646 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Cerebral arteriovenous malformation, High-output congestive heart failur... |
ORPHA:90307 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the g... |
ORPHA:221016 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Vocal cord paresis, Ataxia, Splenomegaly, Recur... |
ORPHA:581 |
Rett Syndrome |
|
Increased serum leptin |
ORPHA:778 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... |
OMIM:608594 |
Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Patent ductus a... |
OMIM:188400 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia, Recurrent infections |
OMIM:620370 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Protuberant abdomen |
OMIM:608022 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruisi... |
OMIM:227645 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Bloody diar... |
OMIM:175200 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:881 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, Otitis media, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia |
OMIM:616258 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the uterus |
ORPHA:785 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Hand tremor, Weight loss |
ORPHA:99819 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Clonus, Feeding difficulties in in... |
ORPHA:534 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abnormal spermat... |
ORPHA:3464 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... |
ORPHA:95455 |
Niemann-Pick Disease, Type C2 |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:607625 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:164310 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Diarrhea, Insulinoma, Esophagitis |
OMIM:131100 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit... |
OMIM:269700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Acrodermatitis Enteropathica |
|
Anorexia, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Weight loss, Conjunctivitis, Failu... |
ORPHA:37 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Chronic diarrhea, Feeding difficulties, Recurrent bacterial infection... |
ORPHA:2176 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity |
OMIM:600955 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Myelomeningocele, Vesicova... |
OMIM:258040 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis... |
ORPHA:79474 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Lower limb spasticity, Diarrhea, Periportal f... |
ORPHA:79328 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Parkinso... |
ORPHA:909 |
Dubowitz Syndrome |
|
Eczema, Abnormality of neutrophils, Chronic diarrhea, Recurrent infections, Acute lymphoblastic l... |
ORPHA:235 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Feeding difficulties in i... |
OMIM:234200 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Telangiectasia, Hematochezia, Mitral regurgitation |
OMIM:175050 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea, Gait ataxia |
OMIM:616355 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Abdominal distention, Diarrhea, Neoplasm of the liver, Constipation, Palpitations,... |
ORPHA:653 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Phace Syndrome |
|
Retinal vascular malformation, Optic nerve hypoplasia, Cerebral arteriovenous malformation |
ORPHA:42775 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Diarrhea, Insulinoma, Extrahepatic cholestasis, Episodic abdominal pain, Esophagit... |
ORPHA:276152 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... |
ORPHA:273 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Spasticity, Annular pancreas, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Growth delay, Hypoplasia of the uterus, Delayed puberty, Intrauterine growth retar... |
OMIM:615866 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Mitral re... |
OMIM:208400 |
Mosaic Trisomy 9 |
|
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation |
ORPHA:99776 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Thrombocytopenia, Leukopenia, Conjunctivitis, Cirrh... |
OMIM:305000 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Diarrhea, Op... |
ORPHA:217253 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Hypovolemia |
ORPHA:2290 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Anterior pituitar... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... |
ORPHA:500055 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Bruising susceptibility, Arterial rupture, Thrombocytopenia |
OMIM:612394 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... |
OMIM:602782 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Eczema, Feeding difficulties in infancy, Annular pancreas, Cons... |
ORPHA:2308 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Woodhouse-Sakati Syndrome |
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Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
Malakoplakia |
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Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Uri... |
ORPHA:556 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Aplasia of the uterus, Intra... |
ORPHA:2879 |
Ivic Syndrome |
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Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Hereditary Angioedema Type 1 |
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Abdominal pain, Diarrhea, Vomiting, Hypotension, Dysphagia, Nausea |
ORPHA:100050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ataxia, Small for gestational age, Tremor, Microvesicular hepatic steatosis, Truncal ataxia, Hype... |
OMIM:220111 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia |
ORPHA:75565 |
Beemer-Ertbruggen Syndrome |
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Thrombocytopenia |
ORPHA:1237 |
Parkinson Disease 20, Early-Onset |
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Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, D... |
OMIM:615530 |
Fanconi Anemia, Complementation Group L |
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Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Progressive Multifocal Leukoencephalopathy |
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Abnormal oligodendroglia morphology |
ORPHA:217260 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Angina pectoris, Ataxia, Abnormality of coordination... |
ORPHA:79318 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Lymphopenia, Pancreatic adenocarcinoma, Acne, Myocardial infarction, Pancreatoblastoma, Anorexia,... |
ORPHA:99889 |
Middle Ear Neuroendocrine Tumor |
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Chronic diarrhea |
ORPHA:100084 |
Cushing Disease |
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Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Decreased eosinophil cou... |
ORPHA:96253 |
Hutchinson-Gilford Progeria Syndrome |
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Limitation of movement at ankles, Cyanosis, Joint stiffness, Limited wrist movement, Osteoarthrit... |
ORPHA:740 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Occipital encephalocele, Aplasia of the uterus |
OMIM:619879 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Neoplasm of the gallbladder, Ch... |
ORPHA:171 |
Ivic Syndrome |
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Patent ductus arteriosus, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Patent ductus art... |
ORPHA:84 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology |
ORPHA:93941 |
Microphthalmia, Syndromic 9 |
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Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... |
OMIM:601186 |
Vascular Ehlers-Danlos Syndrome |
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Joint hyperflexibility, Osteoarthritis, Osteolysis |
ORPHA:286 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Cornelia De Lange Syndrome 1 |
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Pneumonia, Hypertonia, Gastroesophageal reflux, Otitis media, Thrombocytopenia |
OMIM:122470 |
Chromosome 17Q12 Deletion Syndrome |
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Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... |
OMIM:614527 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Short stature, Small for gestational age, Hypoplastic labia majora, Hypoplasia of the uterus, Gon... |
OMIM:618419 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Short stature, Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... |
OMIM:309801 |
Pseudoaminopterin Syndrome |
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Limited elbow movement, Sagittal craniosynostosis, Asplenia, Patchy reduction of bone mineral den... |
ORPHA:221120 |
Viss Syndrome |
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Umbilical hernia, Hypereosinophilia |
OMIM:619472 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Hemiplegia, Chronic diarrhea, Cachexia, Steatorrhea |
ORPHA:3217 |
Alport Syndrome 1, X-Linked |
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Hypertension, Nephritis, Thrombocytopenia |
OMIM:301050 |
Proximal Renal Tubular Acidosis |
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Diarrhea, Bicarbonaturia, Hypovolemia, Hypokalemia, Vomiting, Failure to thrive |
ORPHA:47159 |
Neonatal Inflammatory Skin And Bowel Disease |
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Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Bloody diarrh... |
ORPHA:294023 |
Angioedema, Hereditary, 1 |
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Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Myocardial infarction, Cerebral arteriovenous malformation, Recurrent pneumoni... |
OMIM:150230 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal circulating enzyme concentration or activity, Recurrent ear infections, Splenomegaly, Re... |
ORPHA:217085 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Primary amenorrhea, Aplasia of the ovary |
ORPHA:69085 |
Granulomatosis With Polyangiitis |
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Granulomatosis |
OMIM:608710 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Intestinal obstruction, Ataxia, Small for gestational age, Cerebral hemorrh... |
ORPHA:666 |
Wolf-Hirschhorn Syndrome |
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Short stature, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Growth... |
OMIM:194190 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal circulating enzyme concentration or activity, Recurrent ear infections, Splenomegaly, Re... |
ORPHA:217093 |
Keppen-Lubinsky Syndrome |
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Decreased serum leptin |
OMIM:614098 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Obesity, ... |
OMIM:615873 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume, Recurrent infections |
ORPHA:487796 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Chronic diarrhea, Ataxia |
ORPHA:457279 |
Occipital Horn Syndrome |
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Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormal upper motor neuron morphology |
OMIM:601162 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Patent urachus, Aplas... |
OMIM:618280 |
Mucopolysaccharidosis Type 2 |
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Hepatomegaly, Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infection... |
ORPHA:580 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Transient ischemic attack, Gastroparesis, Failure to thrive in infancy, Feedi... |
ORPHA:500150 |
Multiple Endocrine Neoplasia, Type Iib |
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Diarrhea, Constipation, Failure to thrive in infancy |
OMIM:162300 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Failure to thrive, Small for gestational age, Patent ductus arteriosus, Biliary atresia, Feeding ... |
ORPHA:2255 |
Fibular Hemimelia |
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Thrombocytopenia |
ORPHA:93323 |
Noonan Syndrome 1 |
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Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to... |
OMIM:163950 |
Zttk Syndrome |
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Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... |
OMIM:617140 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... |
OMIM:201750 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Recurrent skin infections, Recurrent pneumonia, Chronic diarrhea, Sepsis, Cheilitis,... |
ORPHA:158668 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Abdominal distention, Secretory diarrhea |
OMIM:270420 |
Granulomatosis With Polyangiitis |
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Granulomatosis, Prostatitis |
ORPHA:900 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Abnormal vagi... |
OMIM:236680 |
Coffin-Siris Syndrome 1 |
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Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Aplasia of the uterus, ... |
OMIM:135900 |
Norrie Disease |
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Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to thrive, Delayed puberty |
ORPHA:649 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis |
ORPHA:93126 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:261540 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Bifid uterus, Cryptorchidism, Short umbilical cord, Small placenta, Hydranencephaly |
OMIM:256520 |
Roberts Syndrome |
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Thrombocytopenia |
ORPHA:3103 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Anteriorly displaced ... |
OMIM:276820 |
Okamoto Syndrome |
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Severe postnatal growth retardation, Bifid uterus |
ORPHA:2729 |
Peters Plus Syndrome |
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Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hypoplasia ... |
ORPHA:709 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Meconium Ileus |
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Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
Pallister-Killian Syndrome |
|
Small scrotum, Rhizomelia, Hypospadias, Mesomelic/rhizomelic limb shortening, Cryptorchidism, Obe... |
OMIM:601803 |