Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Short thumb |
OMIM:274205 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Squamous Cell Carcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99977 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Satoyoshi Syndrome |
|
Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Genu varum, Abnormal ... |
ORPHA:3130 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:300510 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo... |
OMIM:601076 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Tetralogy of Fallot |
ORPHA:250994 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... |
ORPHA:1381 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Long thumb, Bone marrow hypocellularity, Adrenal hypoplasia |
OMIM:619151 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy |
OMIM:312500 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus,... |
OMIM:614851 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital... |
ORPHA:2377 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... |
ORPHA:2470 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Short metacarpal, Cataract, Short thumb |
ORPHA:2489 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Adenocarcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99976 |
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 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Abnormal rib morphology... |
ORPHA:2772 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Satoyoshi Syndrome |
|
Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges of the han... |
OMIM:600705 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... |
ORPHA:100083 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Secondary ... |
ORPHA:3085 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t... |
OMIM:616258 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Mal... |
OMIM:240950 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d... |
OMIM:613730 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... |
OMIM:137920 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital adrenal hyper... |
ORPHA:96181 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Cataract, Hydroureter, Limited mobilit... |
OMIM:222300 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Martsolf Syndrome 2 |
|
Cataract, Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ... |
OMIM:619420 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Abnormal lymph n... |
ORPHA:54251 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... |
ORPHA:90790 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Hypo... |
OMIM:309801 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... |
OMIM:273395 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ... |
ORPHA:1867 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu... |
ORPHA:564 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thu... |
OMIM:618419 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... |
ORPHA:97289 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Hepatitis, Lymphadenopathy |
ORPHA:444463 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Hip cont... |
OMIM:616651 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy |
ORPHA:100024 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... |
ORPHA:85450 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal meta... |
ORPHA:465508 |
Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect... |
ORPHA:3097 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Vaginal hernia, Broad thumb, Cataract |
ORPHA:3173 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis |
OMIM:603552 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Ventricular septal defect, Splenom... |
ORPHA:290 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis |
OMIM:611812 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, S... |
OMIM:615559 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola... |
OMIM:247410 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Hypogona... |
ORPHA:127 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Clubbing of fingers, Lymphadenopathy |
OMIM:618982 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Congenital hip dislocation, Ulnar deviation of the 3rd finger, P... |
ORPHA:456312 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Finger syndactyly, Abnormality of the p... |
ORPHA:3376 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperins... |
ORPHA:79237 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Cardiomegaly, Lymphadenopathy |
ORPHA:858 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:280679 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia... |
OMIM:211890 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Pro... |
ORPHA:449432 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Abnormal reproductive system morphology, Abnormality of... |
ORPHA:1666 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... |
OMIM:615866 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Cl... |
ORPHA:99812 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Rena... |
OMIM:229850 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing... |
OMIM:305400 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones,... |
OMIM:614376 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,... |
ORPHA:887 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyly, P... |
OMIM:263520 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Trisomy 8P |
|
Short fourth metatarsal, Abnormal atrioventricular connection, Nephrocalcinosis, Aplasia/Hypoplas... |
ORPHA:264450 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Cataract, Hypospadias, Ventricular septal defect, Supernumerary... |
ORPHA:217346 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi... |
ORPHA:3301 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract |
ORPHA:523 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Clinodactyly of... |
ORPHA:709 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Abnormality of the spleen, Deviation of the 2nd finger, Clinodacty... |
ORPHA:1305 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... |
ORPHA:464329 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, He... |
OMIM:209950 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep... |
ORPHA:2035 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Chemos... |
OMIM:614034 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Overlapping toe, Cryptorchidism, Developmental cataract, Hypoplastic lab... |
OMIM:614225 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Missing ribs, Cryptorchidism, Microcornea, Clitoral hypop... |
OMIM:147791 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Renal insuffic... |
ORPHA:93111 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... |
ORPHA:1333 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Mul... |
ORPHA:2308 |
Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Short thumb, Hypopl... |
OMIM:244300 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia... |
OMIM:227646 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Cataract, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated circu... |
OMIM:103580 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Cryptorchidism, Abnormal sho... |
ORPHA:2115 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Short... |
OMIM:612462 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... |
ORPHA:231580 |
H Syndrome |
|
Hallux valgus, Diabetes mellitus, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Azoosperm... |
ORPHA:168569 |
Oeis Complex |
|
11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Cryptorchidism, Epispadi... |
OMIM:258040 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Metaphyseal scleros... |
ORPHA:2905 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis |
OMIM:613987 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Short toe, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Abnormal... |
ORPHA:39041 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... |
OMIM:261540 |
Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy |
ORPHA:654 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Conjunctivitis, Lymphadenopathy |
OMIM:607594 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ... |
OMIM:271520 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Brachydactyly, Cataract, Renal insufficiency, Mitral valve prolapse, Nephropa... |
ORPHA:1563 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Iris hypopigmentation |
ORPHA:79477 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal... |
OMIM:616263 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism... |
ORPHA:2879 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Cataract, Postaxial polydactyly, Nephrogenic diabetes insipidus, P... |
OMIM:209900 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib mor... |
ORPHA:991 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro... |
ORPHA:116 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Long fingers, ... |
OMIM:614527 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Pancreatic steatosis, Cryptorchidism, Astigmat... |
OMIM:617052 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy |
ORPHA:142 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... |
ORPHA:549 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... |
OMIM:614377 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre... |
ORPHA:2588 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Development... |
OMIM:610199 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Delayed puberty, Nephrolithiasis, F... |
OMIM:232220 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Nephrocalcinosis, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Polysplenia, Cys... |
OMIM:200995 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:26790 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... |
ORPHA:36412 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Bicuspid aortic valve, Parachute mitral valve, Ventricular septal defec... |
OMIM:265380 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ir... |
ORPHA:381 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Rhabdoid Tumor |
|
Hematuria, Neoplasm of the liver, Lymphadenopathy |
ORPHA:69077 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Atelosteogenesis Type I |
|
Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog... |
ORPHA:1190 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Atrial s... |
OMIM:269150 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Multicystic kidney dysplasia, Pancreatic cysts, Abnormali... |
ORPHA:1318 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Cataract, Ventricular septal defect, Congenital hip dislocation,... |
OMIM:600373 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... |
OMIM:276820 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... |
OMIM:619644 |
Bohring-Opitz Syndrome |
|
Syndactyly, Ventricular septal defect, Overlapping toe, Supernumerary nipple, Tapered finger, Sho... |
OMIM:605039 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Congenital hip dislocation, Cryptorchidism, Short thumb, Small hand, Microcornea, Short... |
OMIM:268400 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Cataract, Ventricular septal defect, Increased level of ribos... |
ORPHA:488618 |
Doors Syndrome |
|
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasi... |
ORPHA:79500 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Conjunctivitis, Hepato... |
OMIM:300755 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe syndactyly, Annular... |
ORPHA:488642 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux... |
OMIM:107480 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosp... |
OMIM:618935 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Broad hallux, Maturity-onset diabetes of the young,... |
ORPHA:96149 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Bowed humerus, Hypoplastic iliac wing, Ulnar bowing, Hypoplastic acetabulae, Femora... |
OMIM:620076 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia... |
ORPHA:322 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, 2-3 toe syndactyly, Delayed pubic bone ossification... |
OMIM:618162 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Cryptorchidism, Ureterocele... |
ORPHA:261265 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Cataract, Abnormal heart valve morphology, Hypospadias, Short hallux, T... |
ORPHA:90652 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... |
ORPHA:730 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Anterior rib cupping, Exocrine pancreatic insufficiency, Metaphyseal widening, Hype... |
OMIM:617941 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Renal insufficiency, Abnormality of the endocrine system... |
ORPHA:228123 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Abnormal perica... |
ORPHA:284 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Jaundice, Absent tonsils, Hepatomegaly |
ORPHA:276 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Iris coloboma, Accessory spleen, Hypospadias, Pseudoepiphyses of the metaca... |
OMIM:194190 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... |
OMIM:616307 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Thyroid ... |
ORPHA:653 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti... |
ORPHA:100093 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Ventricular septal defect, Cryptorchidism, Vesicoureteral reflux, Renal ... |
OMIM:616975 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Lesch-Nyhan Syndrome |
|
Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy |
OMIM:300322 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Lymphadenopathy |
OMIM:257200 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphadenopathy |
OMIM:308240 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Orchitis, Splenomegaly, Peritonitis, Abnormal sacroiliac joint morphology, Lymphade... |
ORPHA:32960 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... |
ORPHA:449395 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Cholestasis, Lymphadenopathy, ... |
OMIM:615895 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Mevalonic Aciduria |
|
Cataract, Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly... |
OMIM:610377 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis... |
ORPHA:342 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Chronic irritative conjunctivitis, Toe syndactyly, 3-4 finger cutaneou... |
ORPHA:69085 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Lymphadenopat... |
ORPHA:809 |
Holoprosencephaly |
|
Microphthalmia, Anophthalmia |
ORPHA:2162 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Annular panc... |
OMIM:615710 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Cataract, Portal hypertension, Tapered finger, Cryptorchidism... |
OMIM:620005 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Pericardial effusion, Lymphadenopathy |
OMIM:613011 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Splenomegaly, Myocarditis, Hepatitis, Bo... |
ORPHA:829 |
Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... |
ORPHA:959 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... |
ORPHA:2729 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Short thumb, Short toe... |
OMIM:164280 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Neonatal insulin... |
ORPHA:2255 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... |
OMIM:157640 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nep... |
ORPHA:139402 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Urina... |
ORPHA:556 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re... |
OMIM:118450 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly, Lymphadenopathy |
OMIM:618048 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Hepatitis, Lymphadenopathy, Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... |
ORPHA:100080 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Clubbing of fingers, Con... |
OMIM:614700 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H... |
ORPHA:538 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Cinca Syndrome |
|
Hepatomegaly, Splenomegaly, Brachydactyly, Lymphadenopathy |
ORPHA:1451 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy |
ORPHA:79456 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the iris, Lymphadenopathy |
ORPHA:169090 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... |
OMIM:619418 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... |
ORPHA:781 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Overlapping toe, Overlapping fingers, Hypoplastic pubic bone, Abnormal... |
ORPHA:798 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis... |
OMIM:266920 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus |
OMIM:301078 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula... |
OMIM:614083 |
Farber Disease |
|
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Short toe, Lymphadenopathy, Hep... |
ORPHA:333 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia |
OMIM:142680 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl... |
ORPHA:139411 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Hepatitis, C... |
OMIM:308230 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus |
ORPHA:436159 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... |
OMIM:606367 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... |
ORPHA:457284 |
Behçet Disease |
|
Pericarditis, Cataract, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopath... |
ORPHA:117 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... |
ORPHA:100082 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy |
ORPHA:2686 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5... |
OMIM:135900 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Cholestatic liver disease, Abnormal renal ... |
ORPHA:540 |
Sarcoidosis |
|
Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly, Hyperthyroidism, Po... |
ORPHA:797 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly |
ORPHA:98850 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... |
OMIM:256040 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Unilater... |
ORPHA:1521 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Rocker bottom foot, Bifid... |
OMIM:256520 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N... |
ORPHA:93552 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno... |
ORPHA:100079 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Orchi... |
ORPHA:1304 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterior pituitary... |
ORPHA:449563 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Finger swelling, Conjunctivitis |
OMIM:617591 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular cirrhosis, 3-Methylglutaric acidu... |
OMIM:557000 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... |
OMIM:214800 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Jaundice, Hepatosplenom... |
ORPHA:79124 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Lymphadeno... |
OMIM:607944 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy |
ORPHA:158061 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Ectopic kidney, Cryptorchidism, Slender toe, Abnormality o... |
ORPHA:3063 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of th... |
OMIM:268300 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Oliguria, Central hypothyroidism |
ORPHA:514 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, A... |
ORPHA:50918 |
Orofaciodigital Syndrome I |
|
Syndactyly, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Short 2nd toe... |
OMIM:311200 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Metacarpophalangeal joint co... |
ORPHA:97297 |
Norrie Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Sclerocornea, Cataract, Ectop... |
ORPHA:649 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Small intestine carcinoid, Increas... |
ORPHA:100078 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Ocular albinism, Lymphadenopathy, Iris hypopigmentation |
OMIM:214500 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosi... |
ORPHA:93271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:138 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Orchitis, Splenomegaly, Jaundice, Epididymitis, Pe... |
ORPHA:99827 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... |
ORPHA:100075 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... |
OMIM:304120 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, P... |
ORPHA:2136 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy |
ORPHA:199241 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Mitral valve... |
OMIM:130050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy |
OMIM:267700 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:79126 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Conjunctivitis, Cholestasis, Lymphadenopathy |
ORPHA:293173 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Splenomegaly, Stage 5 chronic kidney ... |
ORPHA:90340 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Hepatitis, Thyroiditis, Lymph... |
ORPHA:37042 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... |
ORPHA:31150 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Cholestasis, Mitral valve prolapse, Hilar lymph node e... |
OMIM:620233 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Cutaneous Neuroendocrine Carcinoma |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia |
OMIM:300166 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm... |
ORPHA:667 |
Acute Promyelocytic Leukemia |
|
Hematuria, Metrorrhagia, Lymphadenopathy |
ORPHA:520 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Acute hepatitis |
ORPHA:39812 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... |
OMIM:260920 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy... |
OMIM:613159 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Biliary cirrhosis, Thyroiditis... |
ORPHA:289390 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Atypical or prolonged hepatitis, Thyroiditis, Lymphadenopathy, Hypothyroidism |
ORPHA:83471 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Chronic noninfectious lymphad... |
ORPHA:3261 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Lymphadenopathy, Hepatos... |
OMIM:615688 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, A... |
ORPHA:85408 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... |
ORPHA:79078 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:33226 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy... |
ORPHA:2331 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru... |
ORPHA:3385 |
Selective Igm Deficiency |
|
Keratitis, Lymphadenitis, Lymphadenopathy, Thyroid carcinoma, Hashimoto thyroiditis |
ORPHA:331235 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha... |
OMIM:181000 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Iris hypopigme... |
ORPHA:167 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury |
ORPHA:29073 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy |
OMIM:620232 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa... |
OMIM:601803 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Renal insufficiency, Orchitis, Jaundice, Lymphadenopathy, Conjunctival hyperemia, P... |
ORPHA:99826 |
Common Variable Immunodeficiency |
|
Splenomegaly, Abnormality of the liver, Lymphadenopathy |
ORPHA:1572 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Congenital hip dislocation, Hypospadias, Abnormal heart valve morphology, Cryptorchi... |
ORPHA:286 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Conjunc... |
ORPHA:509 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Immunodeficiency 82 With Systemic Inflammation |
|
Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphadenopathy, Anoperineal fistula |
OMIM:619381 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria |
ORPHA:536 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |