Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm of the oral cavity, Hyperuric... |
ORPHA:543 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia |
ORPHA:251393 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Immunodeficiency 104 |
|
Splenomegaly, Oral ulcer, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Hypophosphatemic rickets, Abnormality of dental color |
OMIM:163200 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, O... |
OMIM:602450 |
Usher Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Decreased fertilit... |
ORPHA:886 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... |
ORPHA:1031 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:603552 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic... |
ORPHA:54251 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Recurrent sinusiti... |
OMIM:620282 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Cryptorchidism, Hypospadias |
OMIM:101805 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Elevated circulating uroporphyrin concentration, C... |
OMIM:263700 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... |
OMIM:614736 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Cervical lymphaden... |
ORPHA:2686 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Advanced eruption ... |
ORPHA:769 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... |
OMIM:235200 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... |
OMIM:611762 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:300510 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia, Thrombocytopenia |
OMIM:613987 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ... |
OMIM:619750 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, Micrognathia, ... |
OMIM:170390 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth |
OMIM:253000 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate ut... |
OMIM:601076 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... |
ORPHA:2975 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnormal circulatin... |
ORPHA:79277 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... |
ORPHA:231632 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Splenomegaly, Thro... |
ORPHA:507 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... |
ORPHA:97289 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym... |
ORPHA:83469 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth |
OMIM:253010 |
Lig4 Syndrome |
|
Pancytopenia, Hypoplasia of penis, Micrognathia, Cryptorchidism, Leukocytosis, Lymphadenopathy, A... |
ORPHA:99812 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Pfapa Syndrome |
|
Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy |
ORPHA:42642 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen... |
ORPHA:277 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Roifman Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Downturne... |
ORPHA:353298 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Lymphadenopathy |
OMIM:240500 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ... |
OMIM:150550 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Abnormal circulating porphyrin concentration, Eryt... |
ORPHA:95159 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... |
OMIM:619151 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... |
ORPHA:534 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... |
OMIM:618165 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar... |
OMIM:615300 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... |
OMIM:613179 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Th... |
OMIM:617053 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556037 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... |
ORPHA:666 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Chronic sinusitis |
ORPHA:397596 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon... |
OMIM:154230 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat... |
OMIM:305400 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Anemia |
OMIM:611489 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis, Anemia |
OMIM:175500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Hem... |
OMIM:615122 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556030 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Thyroid... |
OMIM:619375 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Immunodeficiency 54 |
|
Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insufficiency, Reduced... |
OMIM:609981 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... |
OMIM:614034 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... |
ORPHA:369929 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Increased circula... |
ORPHA:465508 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi... |
ORPHA:2237 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Cleft upper lip, Gingival overgrowth,... |
ORPHA:168569 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel, Thrombocytop... |
ORPHA:169090 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Roifman Syndrome |
|
Thin upper lip vermilion, Eosinophilia, Splenomegaly, Lymphadenopathy, Downturned corners of mout... |
OMIM:616651 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Micrognathia, Splenomegaly, Hypokalemia, High palate, Hypocalcemia |
OMIM:617913 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Increased serum testo... |
ORPHA:247768 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recurrent aphthous... |
OMIM:301078 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:858 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... |
ORPHA:100026 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypothyroidism,... |
ORPHA:699 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... |
ORPHA:98848 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... |
ORPHA:171876 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:603909 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... |
ORPHA:169154 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re... |
ORPHA:98813 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m... |
ORPHA:213 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:618495 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... |
OMIM:610600 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy... |
OMIM:618935 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... |
OMIM:603553 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase |
ORPHA:681 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... |
ORPHA:64 |
East Syndrome |
|
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... |
ORPHA:1332 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy,... |
ORPHA:520 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hypoplasia of t... |
OMIM:615866 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatosplen... |
OMIM:619644 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow hypocellularit... |
ORPHA:381 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... |
ORPHA:824 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy |
ORPHA:142 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Increased c... |
ORPHA:231625 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... |
ORPHA:2136 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, N... |
OMIM:300755 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:98850 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, ... |
ORPHA:320 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... |
ORPHA:508 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, An... |
OMIM:617591 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Persistence of primary teeth, Carious teeth, Hypocalcemic seizures, Hyperpho... |
ORPHA:93325 |
Felty Syndrome |
|
Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutrope... |
ORPHA:47612 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Hypokalemia, Increased circulating ACTH level, Oligomenorrhea |
OMIM:219090 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal lymphocyte morph... |
ORPHA:39041 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... |
OMIM:602782 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Thyroiditis, Lymphadenop... |
ORPHA:83471 |
Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis |
OMIM:257200 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
ORPHA:540 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Limb-Mammary Syndrome |
|
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Primary amenorrhea, Bilateral breast h... |
ORPHA:69085 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Reduced blood ur... |
OMIM:219800 |
Helix Syndrome |
|
Hypokalemia, Hyperparathyroidism, Hypermagnesemia |
OMIM:617671 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... |
ORPHA:199299 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... |
ORPHA:100093 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Abnormal upper lip morphology, Ovarian cyst,... |
OMIM:614527 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula, Micrognathia |
OMIM:616258 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... |
OMIM:304790 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Oral ulc... |
OMIM:308230 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph... |
ORPHA:284339 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea |
OMIM:600705 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th... |
ORPHA:167 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni... |
OMIM:214500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus, Cleft palate, Micrognathia |
ORPHA:3320 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Adult-Onset Still Disease |
|
Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:829 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus,... |
OMIM:601186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism... |
OMIM:603457 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Graft Versus Host Disease |
|
Trismus, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia, S... |
ORPHA:39812 |
Pancreatoblastoma |
|
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Castleman Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
ORPHA:160 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... |
ORPHA:514 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
OMIM:616100 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Cleft palate, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Anemia |
OMIM:614083 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Hypospadias, Cryptorchidism, Thick lower lip vermilion, C... |
ORPHA:3063 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:50918 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia of ... |
ORPHA:2879 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... |
ORPHA:2905 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Anemia |
ORPHA:97362 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Aplasia of the uterus, Ambiguous genitalia, Retrognathia |
OMIM:619879 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... |
OMIM:607364 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo... |
ORPHA:1521 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Iron deficiency ane... |
ORPHA:358 |
Malakoplakia |
|
Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Abnormality of the tongue, ... |
ORPHA:556 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin ... |
OMIM:203400 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia |
ORPHA:549 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Microretrognathia, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Lymp... |
OMIM:619418 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... |
ORPHA:37042 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Aphthous ulcer... |
OMIM:615688 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p... |
ORPHA:449432 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Anemia |
OMIM:619377 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Lymphadenopathy |
ORPHA:343 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma |
ORPHA:1333 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... |
ORPHA:293978 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Enanthema, Thyroiditis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer... |
ORPHA:653 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... |
ORPHA:331235 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Leukocytosis, Ly... |
OMIM:615895 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen... |
OMIM:260920 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Hypospadias, Premature loss of primary teeth, Abnormality of the dentition, Car... |
ORPHA:286 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thromboc... |
ORPHA:93552 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma... |
ORPHA:449563 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Delayed puberty |
OMIM:263800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Neoplasm of the thymu... |
ORPHA:744 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... |
ORPHA:275761 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Lymphadenopathy, Hypoca... |
ORPHA:667 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... |
ORPHA:95409 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Carney Triad |
|
Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical adenoma, Pheoc... |
ORPHA:139411 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingival bleeding, ... |
ORPHA:33226 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia |
ORPHA:809 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Lymp... |
ORPHA:32960 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
ORPHA:89938 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Hypospadias, Micrognathia, Bifid uterus, Cleft palate, Adrena... |
OMIM:236680 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis |
OMIM:608885 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Micrognathia, Cleft upper lip, Cryptorchidism, Precocious puberty,... |
OMIM:194190 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Increas... |
ORPHA:97287 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus... |
OMIM:618280 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Oral leukoplakia, Lymphadenopathy |
ORPHA:342 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Micrognathia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepat... |
OMIM:274000 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal... |
ORPHA:538 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent sinusitis, Neutropenia... |
OMIM:607944 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hyperactive renin-angiotensin ... |
OMIM:241200 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Tented upper lip vermilion, Diabetes mellitus, Decreased response to growt... |
ORPHA:273 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Enamel hypomineralization, Bicarbonaturia |
ORPHA:47159 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233710 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Conical tooth, Cryptorchidism, ... |
OMIM:135900 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati... |
OMIM:137920 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, Abnormality of the endocrine system, Abnormality of the ... |
ORPHA:228123 |
Neuroendocrine Neoplasm Of Appendix |
|
Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adrenocorticotropic hormone excess, Incr... |
ORPHA:100079 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Sarcoidosis |
|
Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Eosinophilia, Hypercalcemia, Abnormal repr... |
ORPHA:797 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233690 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Bifid uterus, Open bite, Splenomega... |
ORPHA:2729 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hypersplenism, Splenomegaly, Leukocytosis,... |
ORPHA:1304 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... |
ORPHA:100080 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... |
OMIM:614162 |
Farber Disease |
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Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Distal Renal Tubular Acidosis |
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Hemolytic anemia, Hypokalemia |
ORPHA:18 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Leukocytosis, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Thin upper lip vermilion |
OMIM:620233 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Open mouth, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Thin vermilion border, Periodontitis, Uterine ... |
OMIM:130050 |
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 |
Scorpion Envenomation |
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Hypokalemia, Increased circulating NT-proBNP concentration, Priapism, Increased circulating creat... |
ORPHA:466677 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Orchitis, Splenom... |
ORPHA:99827 |
Familial Hypoaldosteronism |
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Hyponatremia, Hyperkalemia, Adrenal insufficiency, Increased circulating renin level, Decreased c... |
ORPHA:427 |
Loeys-Dietz Syndrome |
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Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula |
ORPHA:60030 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Pulmonary Capillary Hemangiomatosis |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hyp... |
OMIM:309801 |
Igg4-Related Kidney Disease |
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Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Prostatitis, ... |
ORPHA:449395 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos... |
ORPHA:536 |
Birk-Landau-Perez Syndrome |
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Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Primary Sjögren Syndrome |
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Normocytic anemia, Vaginal dryness, Thrombocytopenia, Thyroiditis, Lymphadenopathy, Leukopenia, N... |
ORPHA:289390 |
Behçet Disease |
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Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Recurrent aphthous stomatitis |
ORPHA:117 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
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Generalized lymphadenopathy |
OMIM:620232 |
Neu-Laxova Syndrome 1 |
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Cleft upper lip, Swollen lip, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Bifid uter... |
OMIM:256520 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia |
OMIM:618426 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... |
ORPHA:79078 |
Q Fever |
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Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:781 |
Peters-Plus Syndrome |
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Thin upper lip vermilion, Hypoplasia of the vagina, Short lingual frenulum, Bilateral cleft lip, ... |
OMIM:261540 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:306400 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Ileal Neuroendocrine Tumor |
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Iron deficiency anemia, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy |
ORPHA:100078 |
Peters Plus Syndrome |
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Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Cleft upper lip, Micrognathia, Cr... |
ORPHA:709 |
Norrie Disease |
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Diabetes mellitus, Cryptorchidism, Thin vermilion border, Erectile dysfunction, Uterine rupture, ... |
ORPHA:649 |
Gallbladder Neuroendocrine Tumor |
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Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Chikungunya |
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Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy |
ORPHA:324625 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... |
ORPHA:544482 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Enlarged la... |
OMIM:181000 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Sma... |
OMIM:601803 |
Malignant Hyperthermia Of Anesthesia |
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Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Ethylene Glycol Poisoning |
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Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Blau Syndrome |
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Splenomegaly, Abnormal salivary gland morphology, Anemia, Lymphadenopathy |
ORPHA:90340 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
African Trypanosomiasis |
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Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomegaly, Hepatosple... |
ORPHA:3385 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Leptospirosis |
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Hyperproteinemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:509 |