Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Decreased testicular size, Ambiguous genitalia, Male hypogonadism |
ORPHA:393 |
Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholelithiasis, Cholestasis |
OMIM:614156 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inertia, Inappropriate behavior, Abnormal neuron morphology, Shuffling gait, Bradykines... |
ORPHA:412066 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice |
OMIM:605479 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... |
ORPHA:65682 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Ataxia, Anxiety, Depression, Memo... |
ORPHA:401901 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Unsteady gait, Anxiety, ... |
OMIM:603218 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Cataract |
OMIM:607906 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Basal ganglia calcification, Anxiety, ... |
OMIM:615483 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Alpha-Thalassemia |
|
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly |
ORPHA:846 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Chorea, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Cholelithiasis |
ORPHA:79278 |
Erythrocytosis, Familial, 8 |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:222800 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... |
OMIM:604326 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract |
OMIM:165300 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:235700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Cataract |
OMIM:614882 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:266200 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Early-Onset Schizophrenia |
|
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Dec... |
ORPHA:96369 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Oligospermia, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Huntington Disease |
|
Gait imbalance, Apathy, Irritability, Cerebral atrophy, Anxiety, Gait disturbance, Caudate atroph... |
ORPHA:399 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic adenocarcinoma,... |
ORPHA:2869 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Anxiety, Depression |
OMIM:605909 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... |
ORPHA:53035 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ascites, Increased circulating gonadotropin level, Enlarged polycystic ... |
ORPHA:64739 |
Premature Ovarian Failure 19 |
|
Premature ovarian insufficiency |
OMIM:619245 |
Childhood Disintegrative Disorder |
|
Dementia, Anxiety, Social and occupational deterioration, Mental deterioration, Motor deteriorati... |
ORPHA:168782 |
Glycogen Storage Disease Xii |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:611881 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:79238 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ascites, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteri... |
ORPHA:314473 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Cataract |
OMIM:273680 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Dysmetria, Chorea, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, De... |
OMIM:618093 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Martinez-Frias Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... |
OMIM:601346 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... |
ORPHA:521219 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, De... |
ORPHA:683 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:194380 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Enlarged ovaries, Polycystic ovaries, Biliary cirrhosis, Enla... |
ORPHA:2298 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency |
OMIM:300604 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Cataract |
ORPHA:401830 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Breast hypoplasia, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:785 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Elevated hepatic t... |
ORPHA:79095 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... |
ORPHA:66624 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Fragile X Tremor/Ataxia Syndrome |
|
Dementia, Dysmetria, Bradykinesia, Impaired tandem gait, Dysdiadochokinesis, Impaired distal vibr... |
OMIM:300623 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellular carcinoma, ... |
ORPHA:231222 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the ovary, Abnormality of the spleen, Abnormality of the... |
ORPHA:543 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Punctate periventricular T2 hyperintense foci, ... |
ORPHA:309246 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Hypergonadotropic hypogonad... |
ORPHA:90796 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Male hypogonadism, Premat... |
OMIM:240300 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Rabson-Mendenhall Syndrome |
|
Long penis, Enlarged ovaries, Precocious puberty, Clitoral hypertrophy, Increased pineal volume |
ORPHA:769 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis |
ORPHA:280356 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hepatic steatosis, Hypergonadotropic h... |
ORPHA:91 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:603903 |
Young-Onset Parkinson Disease |
|
Dystonia, Male sexual dysfunction, Dementia, Gait imbalance, Panic attack, Cognitive impairment, ... |
ORPHA:2828 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract |
OMIM:278780 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Abnormality of the male genitalia |
OMIM:614886 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Memory impairment, Ataxia, Disinhibition, Abnormal social behavior, ... |
ORPHA:1020 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Ascites, Peritonitis, Ovarian fibroma, ... |
ORPHA:314478 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
ORPHA:2745 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Ppoma |
|
Hepatomegaly, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotrop... |
ORPHA:97278 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:615512 |
Leprechaunism |
|
Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, Overgrowth ... |
ORPHA:508 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... |
OMIM:228300 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Keratoconus, Cataract |
OMIM:204000 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Premature Ovarian Failure 18 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619203 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Premature ovarian insufficiency, Ascites, Splenomegaly |
ORPHA:100025 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... |
OMIM:612310 |
Preeclampsia |
|
Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Polycystic ovaries |
ORPHA:275555 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Hereditary Elliptocytosis |
|
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Diethylstilbestrol Syndrome |
|
Testicular dysgenesis, Hypospadias, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Cimdag Syndrome |
|
Hypogonadism, Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Distal Trisomy 5Q |
|
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:619146 |
Ovarian Dysgenesis 9 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619665 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Pigment gallstones, Cholestasis |
ORPHA:232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Micropenis, Decreased testicular size, Cholelithiasis |
OMIM:300534 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Cataract, Hepatic steatosis |
OMIM:606069 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Grfoma |
|
Hepatomegaly, Pheochromocytoma, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circ... |
ORPHA:97261 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... |
ORPHA:400 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Hereditary Spherocytosis |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Cataract, Jaundice |
OMIM:614872 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract |
OMIM:613730 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Polycystic ovaries, Decreased testicular size, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries |
ORPHA:2795 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Hepatic steatosis |
ORPHA:79085 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia majora, Elevated circulating follicle... |
ORPHA:95699 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Microgastria-Limb Reduction Defects Association |
|
Asplenia, Splenogonadal fusion, Absent gallbladder, Bicornuate uterus, Cryptorchidism, Biliary tr... |
OMIM:156810 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cataract |
ORPHA:369840 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Cataract |
ORPHA:3156 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Cataract |
OMIM:615704 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis, Neonatal choles... |
ORPHA:1414 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Neoplasm of the gallbladder, Hemobilia |
ORPHA:512 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Micropenis, Precocious puberty, Cryptorchidism |
ORPHA:96092 |
Donohue Syndrome |
|
Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertrophy, Cholestasi... |
OMIM:246200 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice |
ORPHA:234 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Intermittent jaundice, Splenomegaly |
ORPHA:3202 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Joubert Syndrome 9 |
|
Astigmatism, Cataract, Hepatic fibrosis |
OMIM:612285 |
Distal Monosomy 10P |
|
Cryptorchidism, Polycystic ovaries, Hypoplasia of penis |
ORPHA:1580 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis |
OMIM:612284 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Hypoplastic nipples, Cholelithiasis, Splenomegaly, Decreased liver function |
OMIM:618268 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, He... |
ORPHA:370 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Cl... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hepatic steatosis, Polycystic ovaries |
OMIM:604367 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Biliary tract abnormality, Uterine neoplasm, Precocious p... |
OMIM:175200 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly |
ORPHA:435660 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Polycystic ovaries, Hypergonadotropic hypogonadism |
OMIM:268020 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hypertension |
ORPHA:774 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the ut... |
ORPHA:201 |
Bangstad Syndrome |
|
Abnormal testis morphology, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:1227 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary |
OMIM:618841 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Precocious puberty |
OMIM:301066 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... |
ORPHA:335 |
Primary Lipodystrophy |
|
Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Pentalogy Of Cantrell |
|
Hypospadias, Polysplenia, Absent gallbladder |
ORPHA:1335 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Cataract, Splenomegaly |
OMIM:608885 |
Galactosemia I |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Cataract |
OMIM:230400 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Male urethral meatus stenosis, Cholelithiasis |
ORPHA:464738 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis |
ORPHA:2348 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Hepatocellular adenoma, Sple... |
ORPHA:264580 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
Peroxisome Biogenesis Disorder 10B |
|
Prolonged neonatal jaundice, Cataract |
OMIM:617370 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Lathosterolosis |
|
Elevated hepatic transaminase, Ambiguous genitalia, male, Hepatosplenomegaly, Bilobate gallbladde... |
OMIM:607330 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:79083 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Hepatosplenomegaly, Cho... |
OMIM:267010 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... |
ORPHA:562639 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Abnormality of the gallbladder, Abnormality of mesentery m... |
ORPHA:2075 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly |
OMIM:263700 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Uterus didelphys, Absent gallbladder |
OMIM:617925 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Hepatitis, Hepatocellular adenoma, Pancreatitis, Abnormal testis morpholo... |
ORPHA:562 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, Hepatocellular aden... |
ORPHA:79240 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Absent gallbladder |
OMIM:300712 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Increased circulating gonadotropin level, Bicornuate uterus, Premature o... |
OMIM:615300 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism, Annular pancreas |
ORPHA:264450 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... |
ORPHA:251510 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Long penis, Polycystic ovaries, Ambiguous genitalia, female, Clito... |
ORPHA:90795 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Micropenis, Cryptorchidism |
ORPHA:83617 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Triploidy |
|
Hypospadias, Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Ambiguous... |
ORPHA:3376 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hepatic fibrosis, Left ventricular hypertrophy, Vaginal atresia, Microp... |
OMIM:209900 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Polycystic ovaries, Abnormal testis morphology, Precocious pub... |
ORPHA:457059 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Chronic hepatitis, Hepatitis, Cirrhosis, Cataract, Exocrine pancreatic insufficiency, B... |
OMIM:269200 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Pancreatic aplasia, Absent gallbladder |
ORPHA:556955 |
Proteus Syndrome |
|
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Long penis, Splenomegaly, Enlarged polycyst... |
ORPHA:744 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Micropenis, Absent gallbladder |
ORPHA:163979 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Acute pancreatitis |
ORPHA:79086 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... |
ORPHA:77293 |
Ring Chromosome 13 Syndrome |
|
Hypospadias, Bifid scrotum, Urogenital sinus anomaly, Micropenis, Ambiguous genitalia, Hypoplasia... |
ORPHA:96176 |
Cowden Syndrome 6 |
|
Varicocele, Ovarian cyst, Goiter, Hydrocele testis |
OMIM:615109 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystit... |
ORPHA:100086 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Vacterl/Vater Association |
|
Hypospadias, Abnormality of the gallbladder, Bifid scrotum, Abnormal morphology of female interna... |
ORPHA:887 |
Opitz Gbbb Syndrome, Type Ii |
|
Hypospadias, Cryptorchidism, Bifid scrotum, Absent gallbladder |
OMIM:145410 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Endometrial carcinoma, Secondary hyperparathyroidism, Cholelithiasis, Ovarian... |
ORPHA:273 |
Cowden Syndrome 5 |
|
Ovarian cyst, Goiter, Hydrocele testis |
OMIM:615108 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Azoospermia, Cholelithiasis, Splenomegaly, Hepatospl... |
ORPHA:2072 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Splenomegaly, Abnormal... |
ORPHA:567 |
Cowden Syndrome 1 |
|
Goiter, Varicocele, Ovarian carcinoma, Ovarian cyst, Hydrocele testis |
OMIM:158350 |
Trisomy 10P |
|
Rectovaginal fistula, Absent gallbladder |
ORPHA:171929 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agenesis, Biliar... |
ORPHA:2255 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia |
OMIM:615272 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cerebrotendinous Xanthomatosis |
|
Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:909 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Cirrhosis, Hepatic steatosis,... |
OMIM:608594 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... |
OMIM:203700 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Cirrhosis, Hepatic steatosis,... |
OMIM:269700 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Acute pancreatitis, Labial pseudohypertrophy |
OMIM:151660 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... |
ORPHA:731 |
Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h... |
OMIM:261540 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis |
ORPHA:280365 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Premature thelarche, Polycystic ovaries, Nodular goiter |
ORPHA:371428 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Aniridia 1 |
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Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Primary Biliary Cholangitis |
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Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, H... |
ORPHA:186 |
Digeorge Syndrome |
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Parathyroid hypoplasia, Parathyroid agenesis, Cholelithiasis |
OMIM:188400 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Metachromatic Leukodystrophy, Adult Form |
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Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Williams Syndrome |
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Urethral stenosis, Hypogonadotropic hypogonadism, Polycystic ovaries, Cardiomegaly, Cholelithiasi... |
ORPHA:904 |
Tetrasomy 9P |
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Oligospermia, Absent gallbladder, Micropenis, Biliary atresia, Cryptorchidism, Jaundice |
ORPHA:3310 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Biliary atresia, Pancreatic hypoplasia, Absent gallbladder |
OMIM:600001 |
Zttk Syndrome |
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Absent gallbladder |
OMIM:617140 |
Fucosidosis |
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Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Hardikar Syndrome |
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Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... |
OMIM:301068 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Orofaciodigital Syndrome I |
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Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Ovarian cyst |
OMIM:311200 |
Infantile Systemic Hyalinosis |
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Polycystic ovaries |
ORPHA:2176 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Macrovesicular hepatic steatosis, Bile duct proliferation, Decreased liver function, Elevated hep... |
OMIM:618329 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Cataract |
OMIM:263100 |
Chromosome 17Q12 Deletion Syndrome |
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Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Elevated hep... |
OMIM:614527 |
Carney Complex |
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Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... |
ORPHA:1359 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Oculoauricular Syndrome |
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Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Fibrous Dysplasia Of Bone |
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Hyperpituitarism, Precocious puberty in females, Elevated circulating growth hormone concentratio... |
ORPHA:249 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Alagille Syndrome 1 |
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Hepatocellular carcinoma, Elevated hepatic transaminase, Posterior embryotoxon, Axenfeld anomaly,... |
OMIM:118450 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Pancreatic cysts, Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Pancreatic... |
OMIM:208500 |
D-Bifunctional Protein Deficiency |
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Fetal ascites, Hepatomegaly, Bile duct proliferation, Splenomegaly, Hepatic steatosis, Cholestasi... |
OMIM:261515 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Lacrimal gland aplasia, Streak ovary, Elevated circulating follicle stimulating hormone level, Po... |
ORPHA:572333 |
Familial Adenomatous Polyposis |
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Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Biliary tract obstruction, Pancreatic ad... |
ORPHA:733 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Biliary Malformation With Renal Tubular Insufficiency |
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Biliary hyperplasia, Jaundice |
OMIM:210550 |
Autosomal Dominant Optic Atrophy And Cataract |
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Postural tremor, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract... |
ORPHA:67036 |
Meckel Syndrome, Type 1 |
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Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, External genital hyp... |
OMIM:249000 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
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Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycystic ovaries, H... |
ORPHA:79259 |
Cranioectodermal Dysplasia 2 |
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Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Left ventricul... |
OMIM:613610 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Cataract |
OMIM:253800 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response |
OMIM:272750 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... |
OMIM:201750 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Ascites, Bile duct proliferation, Small scrotum, Cirrhosis, Hepatic steatosis, Decreased liver fu... |
OMIM:613658 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Limb tremor, Exaggerated startle response |
OMIM:608643 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Hypospadias, Biliary tract obstruction, Exocrine pancreatic insufficiency, Biliary cirrhosis, Sha... |
OMIM:219721 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... |
OMIM:619525 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Testicular adrenal rest tumor, Aplasia of the uterus, Fused labia majora, Precocious puberty in f... |
ORPHA:90794 |
Turner Syndrome |
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Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... |
ORPHA:881 |
Mosaic Monosomy X |
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Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... |
ORPHA:99228 |
Monosomy X |
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Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... |
ORPHA:99413 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response |
ORPHA:438216 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus |
ORPHA:436252 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response |
ORPHA:845 |
Neurofibroma |
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Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response |
ORPHA:521426 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis, Bile duct proliferation, Sp... |
OMIM:619534 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Abnormality of the gallbladder, Clitoral hypertrophy, Ambiguous genitalia, Cryptorch... |
ORPHA:818 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Cryptorchidism, Abdominal situs inversus, Abnormality of the gallbladder |
ORPHA:280 |
Alström Syndrome |
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Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... |
ORPHA:64 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response |
ORPHA:438213 |