Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Microphthalm... |
OMIM:615524 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly, Micropenis |
OMIM:613861 |
Adenomyosis |
|
Adenomyosis |
OMIM:600458 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Microphthalmia |
ORPHA:3434 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619874 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia |
ORPHA:2432 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Abnormality of the gallbladder, Biliary tract neoplas... |
ORPHA:2869 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism |
ORPHA:908 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Microphthalmia, Anemia, Ascites, J... |
ORPHA:858 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatoc... |
OMIM:235200 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Bicornuate uterus, Bifid scrotum, Hypospadias, Ventricular septal defect, E... |
ORPHA:2745 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Atrial septal defect, Long penis, Ventricular septal defect, Enlarged ovaries... |
ORPHA:769 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism |
OMIM:608540 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Polyembryoma |
|
Abdominal mass, Abnormality of the peritoneum, Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal salivary gland morphology, Thrombocytopenia, Enlarged ovaries, Polycystic ov... |
ORPHA:2298 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Ovarian Fibroma |
|
Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the... |
ORPHA:314473 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia |
OMIM:227320 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... |
ORPHA:64739 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Dilated cardiomyopathy, Azo... |
OMIM:602390 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Bilateral ... |
OMIM:618652 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Mitral valve prolapse, Unilateral microphthalmos, Macroorchidism |
OMIM:618874 |
Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Pancreatitis, Ovarian cyst... |
ORPHA:562 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Leprechaunism |
|
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... |
ORPHA:508 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affecting the eye |
ORPHA:1643 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... |
ORPHA:314478 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... |
OMIM:601186 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... |
ORPHA:8 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... |
ORPHA:370 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A... |
ORPHA:2470 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... |
OMIM:618805 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o... |
ORPHA:290 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Preeclampsia |
|
Polycystic ovaries, Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thromb... |
ORPHA:275555 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Cardiomyopathy, Cardio... |
OMIM:617713 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly |
OMIM:269920 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypogonadism, Pancytopenia, Hepatic steatosis |
OMIM:617872 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hepatomegaly, Thrombocytopenia, Anemia, Ascites |
ORPHA:2123 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Micropenis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Pulmonary lymphangie... |
ORPHA:1655 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... |
ORPHA:848 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Primary Lipodystrophy |
|
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy |
ORPHA:90970 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly |
OMIM:613730 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... |
ORPHA:457083 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Joubert Syndrome 37 |
|
Hepatomegaly, Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism |
OMIM:619185 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Splenogonadal fusion... |
OMIM:156810 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... |
OMIM:608978 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Pelvic mass, Transverse vagin... |
ORPHA:65681 |
Ataxia-Telangiectasia |
|
Lymphopenia, Elevated hepatic transaminase, Polycystic ovaries, Aplasia/Hypoplasia of the thymus,... |
ORPHA:100 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... |
ORPHA:615 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias, Hypogonadism |
ORPHA:141333 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos |
ORPHA:3411 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepati... |
ORPHA:2348 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Atrial septal defect, Macroorchidism |
OMIM:309520 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Abnormal heart morphology |
OMIM:263210 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hepatomegaly, Hypertrophic cardiomyopathy, Cirrhosis, Clitoral hyp... |
ORPHA:528 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... |
OMIM:606003 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hypertrophic cardiomyopa... |
ORPHA:79083 |
Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism... |
ORPHA:465508 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... |
OMIM:619151 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:615297 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Ascites, Cardiomyopat... |
OMIM:256550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular... |
ORPHA:83469 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size |
ORPHA:3085 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... |
OMIM:618280 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Cholestasis, Hepatocell... |
ORPHA:264580 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Mitral valve prolapse, Ambiguous genitalia, female, Bicornuate uterus, Quadricuspid aortic valve |
OMIM:606408 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... |
ORPHA:369 |
Cog7-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Jaundice, Abnormal heart morphology |
ORPHA:79333 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Microphthalmia, Hypogonadism |
OMIM:601794 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Microphthalmia |
OMIM:601349 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619665 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites |
ORPHA:1046 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, External genital hypoplasia, Microphthalmia |
OMIM:600118 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Endocardial fibroelastosis,... |
ORPHA:99776 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypoplasia of penis |
ORPHA:2491 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Pierpont Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:487825 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:612310 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... |
OMIM:603903 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hepatomegaly, Hypoplasi... |
ORPHA:3376 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Hypospadias, Abnormal aortic valve morphology,... |
ORPHA:1194 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619203 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Micropenis, Abnormality of the pancreas, Tetralogy of Fallo... |
ORPHA:1926 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly |
OMIM:618958 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Bicornuate uterus, Micropenis, Ventricular septal defect... |
OMIM:264480 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... |
OMIM:232400 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... |
ORPHA:3097 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology, Hepatomegaly |
ORPHA:435660 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Macroorchidism |
ORPHA:261318 |
Pierpont Syndrome |
|
Cryptorchidism, Microphthalmia, Micropenis |
OMIM:602342 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular ... |
ORPHA:2970 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
Trisomy 13 |
|
Atrial septal defect, Anophthalmia, Abnormal morphology of female internal genitalia, Ventricular... |
ORPHA:3378 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situs inver... |
OMIM:615415 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Donohue Syndrome |
|
Precocious puberty, Ovarian cyst, Cholestasis, Long penis, Clitoral hypertrophy, Hepatic fibrosis... |
OMIM:246200 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Ascites, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia |
OMIM:602361 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy |
ORPHA:79086 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis |
ORPHA:2849 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Prostate cancer, Splenomegaly, Hepatic failure, Hemophagocytosis, Hepatosplenomegaly... |
ORPHA:158057 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Microphthalmia, Crypto... |
ORPHA:77298 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Elevated... |
ORPHA:79240 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Clitoral hypertr... |
OMIM:614866 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Hepatomegaly |
OMIM:619433 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries, Cirrhosis, Hepatic steatosis |
OMIM:604367 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... |
ORPHA:201 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... |
OMIM:278000 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis, Cardiomyopathy |
OMIM:606069 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... |
OMIM:618052 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Atrial septal... |
OMIM:602782 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Aortic valve stenosis, Splenomegaly, Pancreatic fibrosis, Cir... |
OMIM:208540 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Splenomegaly, Buphthalmos, Neoplasm of the thymus, Testicular neo... |
ORPHA:744 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypoparathyroidism, Decreased liver function, Anemia of inadequate production, He... |
ORPHA:231222 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatic ... |
OMIM:201475 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the urethra, Ventricular septal defect, Abnormalit... |
ORPHA:2438 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Bicornuate uterus, Ventricular septal defect, Shawl scrotum |
OMIM:145420 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice |
ORPHA:890 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia |
OMIM:619053 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice |
OMIM:618528 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Cryptorchidism, As... |
OMIM:608104 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Hypoplastic ... |
ORPHA:2328 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Decreased testicular size, Microphthalmia |
ORPHA:85284 |
Mogs-Cdg |
|
Hydrocele testis, Hepatomegaly, External genital hypoplasia, Atrial septal defect, Left ventricul... |
ORPHA:79330 |
Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Biliary trac... |
ORPHA:3191 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiom... |
ORPHA:42 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Ventricular septal defect, Microphthalmia, Cryptorchidism, Abnormal heart morphology |
ORPHA:494344 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatitis, Elevated hepa... |
OMIM:269700 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Elevated hepatic transaminase |
OMIM:268020 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transaminase, Labial ... |
OMIM:608594 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Pagod Syndrome |
|
Hypoplastic left heart, Agonadism, Abnormality of the spleen, Abnormal morphology of female inter... |
ORPHA:991 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:48431 |
Meckel Syndrome 14 |
|
Single ventricle, Ambiguous genitalia, Hepatic fibrosis, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Galactosemia |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Abnormal erythrocyte enzyme level, Elevated hepatic tra... |
ORPHA:352 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Hy... |
OMIM:115197 |
Galactosemia I |
|
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu... |
OMIM:230400 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:79312 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Accessory spleen, Anophthalmia... |
ORPHA:564 |
Propionic Acidemia |
|
Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Ovarian neoplasm, Microphthalmia |
OMIM:617883 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Atrial septal defect, Small scrotum, Microphthalmia |
ORPHA:2728 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Elevated hepatic transaminase, Hypogonadism, Cryptorchidism, Hepatic steatosis |
OMIM:615381 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Leukemia, Microphthalmia |
OMIM:602501 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase |
OMIM:613489 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Microphthalmia, Cryptorchidism |
OMIM:243310 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Ventricular septal defect, Gonadal dysgenesis |
ORPHA:1770 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Bicuspid aortic valve, Bicornuate uterus, Clitoral hypertrophy, Rectovaginal f... |
OMIM:300707 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary |
ORPHA:2795 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Uterine neoplasm, Ovarian cyst, Biliary tract abnormality, Iron deficie... |
OMIM:175200 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Microphthalmia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopen... |
OMIM:600901 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Micropenis, Ventricular septal defect, Microphthalmia, Cryptorchidism, Hypo... |
OMIM:244300 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Clitoral hypertrophy, Cr... |
OMIM:214110 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Microsporidiosis |
|
Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Peritonitis, Abnormality ... |
ORPHA:2552 |
Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology |
ORPHA:1227 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Micropenis |
OMIM:618810 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Bicornuate uterus, Hypospadias, Tetralogy of Fallot, Micropht... |
ORPHA:2059 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus |
OMIM:616589 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Microphthalmia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopen... |
OMIM:227650 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:611134 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... |
ORPHA:93111 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Hypospadias, Ovotestis, Vent... |
OMIM:309801 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hepatic failure, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, Ventricular ... |
OMIM:235255 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypoplasia of the i... |
OMIM:613001 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Bardet-Biedl Syndrome 1 |
|
Micropenis, Left ventricular hypertrophy, Biliary tract abnormality, Hepatic fibrosis, Decreased ... |
OMIM:209900 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Ventricular septal defect, Labial hypertrophy, Cryptorchidism, ... |
ORPHA:96191 |
Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Lymphopenia, Abdominal adhesions, Microphthalmia, Bilateral cryptorchidism |
OMIM:616395 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
|