Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... |
ORPHA:439167 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... |
OMIM:600803 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe postnatal growth r... |
ORPHA:73272 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... |
ORPHA:397590 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio... |
ORPHA:254534 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Decreased fetal movement, Short stature, Small for gestational age, Postnatal growth retardation,... |
ORPHA:231144 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus |
OMIM:619480 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestas... |
OMIM:267010 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Sparse hair, Abnormal ductus... |
ORPHA:436252 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, ... |
OMIM:612284 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Pallor |
OMIM:613561 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern... |
ORPHA:254528 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Cholelithiasis, Jaundice |
OMIM:224100 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:605479 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Bifid uterus, Cr... |
OMIM:256520 |
Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
Congenital Heart Block |
|
Premature birth, Hydrops fetalis, Vaginal birth after Caesarian, Pallor, Intrauterine growth reta... |
ORPHA:60041 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hepatosplenomegaly, L... |
ORPHA:85450 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Increased body weight |
ORPHA:276608 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Imbalance... |
ORPHA:330015 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Large for gestational age, Postnatal growth retardation, Large p... |
ORPHA:254519 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Alpha-Thalassemia |
|
Hypersplenism, Cholelithiasis, Jaundice, Splenomegaly |
ORPHA:846 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Cong... |
ORPHA:731 |
Mosaic Trisomy 16 |
|
Premature birth, Hypospadias, Small for gestational age, Large placenta, Single umbilical artery,... |
ORPHA:1708 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Renal cyst, Bile duct ... |
OMIM:208500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Pallor, Large for gestational age |
ORPHA:324575 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Hypospadias, Polyhydramnios, Small for gestational age, Large placenta, Abnormalit... |
OMIM:222470 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... |
OMIM:261515 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276556 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276575 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276580 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... |
ORPHA:778 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Short stature, Pallor |
OMIM:611590 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Pallor |
ORPHA:536516 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Azoospermia, Hypogonadism, Pallor |
OMIM:615234 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Failure to thrive, Pallor, Delayed puberty |
OMIM:600462 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia |
OMIM:602668 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splen... |
OMIM:613610 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Pallor, Skin ulcer |
ORPHA:848 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Greenberg Dysplasia |
|
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... |
OMIM:215140 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight |
OMIM:609053 |
Non-Functioning Paraganglioma |
|
Pallor, Weight loss |
ORPHA:94080 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous ... |
ORPHA:786 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnor... |
ORPHA:79474 |
Spherocytosis, Type 1 |
|
Splenomegaly, Cholelithiasis, Jaundice |
OMIM:182900 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Breast hypopl... |
OMIM:614813 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Hypospadias, Po... |
OMIM:275210 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Weight loss |
ORPHA:3226 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... |
ORPHA:247585 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Biliary hyperplasia, Cryptorchidism, Coarse hair, Cholelithiasis, Pa... |
ORPHA:83617 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Breech presentation, Large placenta, Ambigu... |
OMIM:249000 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Sepsis In Premature Infants |
|
Small for gestational age, Premature birth, Pallor, Decreased body weight, Caesarian section, Pet... |
ORPHA:90051 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor, Increased body weight, Large for gestational age |
ORPHA:263455 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor |
ORPHA:99931 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor, Primary amenorrhea |
OMIM:617675 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
Carney Complex |
|
Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma... |
ORPHA:1359 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Short stature, Premature birth, Polyhydramnios, External genital hypoplasia,... |
ORPHA:96334 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Biliary hyperplasia, Intrahepatic cholesta... |
OMIM:619991 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Azoospermia, Hypogonadism, Pallor |
ORPHA:300298 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... |
ORPHA:91347 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis |
ORPHA:79095 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, Achilles tendon cont... |
ORPHA:456312 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Redundant skin, Polyhydramnios, Large for gestational age, Large placenta, Crypt... |
ORPHA:116 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Sheehan Syndrome |
|
Dyspareunia, Decreased female libido, Obesity, Impotence, Oligomenorrhea, Pallor, Dry skin, Ameno... |
ORPHA:91355 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Renal cyst, Cholesta... |
ORPHA:79303 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pallor |
ORPHA:90045 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Adenohypophysitis |
|
Decreased female libido, Impotence, Pallor, Decreased male libido, Amenorrhea |
ORPHA:95512 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Sialuria |
|
Hepatosplenomegaly, Cholelithiasis, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:3166 |
Esophageal Atresia |
|
Abnormal external genitalia, Small for gestational age, Polyhydramnios, Failure to thrive in infa... |
ORPHA:1199 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Weight loss |
ORPHA:276621 |
Panhypophysitis |
|
Decreased female libido, Impotence, Pallor, Decreased male libido, Amenorrhea |
ORPHA:95513 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Anemi... |
OMIM:227650 |
Fumarase Deficiency |
|
Failure to thrive, Bilateral fetal pyelectasis, Pallor, Polyhydramnios |
OMIM:606812 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Pituitary Apoplexy |
|
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Pallor |
ORPHA:95613 |
Beta-Ketothiolase Deficiency |
|
Pallor, Weight loss |
ORPHA:134 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Anterior pituitary hypoplasia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619534 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Diamond-Blackfan Anemia 1 |
|
Premature birth, Short stature, Spina bifida occulta, Pallor, Intrauterine growth retardation, Fa... |
OMIM:105650 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... |
OMIM:600901 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... |
ORPHA:101330 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Hydrops fetalis, Pallor, Failure to thrive |
OMIM:557000 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Weight loss |
ORPHA:20 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Abnormality of the hairline |
OMIM:614886 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Degcags Syndrome |
|
Premature birth, Hypospadias, Polyhydramnios, Echogenic fetal bowel, Small for gestational age, B... |
OMIM:619488 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Weight loss |
ORPHA:29072 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Weight loss |
ORPHA:98849 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Asplenia, Nail dystrophy, Cholelithiasis,... |
OMIM:240300 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Sickle Cell Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Hereditary Elliptocytosis |
|
Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice |
ORPHA:288 |
Diamond-Blackfan Anemia |
|
Short stature, Nonimmune hydrops fetalis, Hypospadias, Small for gestational age, Growth delay, P... |
ORPHA:124 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Hepatomegaly, Woolly hair, Synophrys, Splenomegaly, Coarse hair, Long eyelashes, Hypo... |
OMIM:618268 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Pallor |
ORPHA:2131 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Pallor, Polycystic ovaries |
ORPHA:137675 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... |
OMIM:227646 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis |
OMIM:618775 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Patchy alopecia, Cholelithiasis, Decreased testicular size, Thick eyebrow |
OMIM:300534 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Metachromatic Leukodystrophy |
|
Hemobilia, Abnormal gallbladder morphology, Neoplasm of the gallbladder |
ORPHA:512 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Pallor |
ORPHA:3260 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Cholelithiasis... |
OMIM:263700 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis |
ORPHA:3310 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the gallbladder, Frontal balding |
ORPHA:96092 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Pallor |
ORPHA:653 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Pallor, Epididymal cyst |
ORPHA:892 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor |
ORPHA:667 |
Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Cholelithiasis, Sparse scalp hair |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Synophrys, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Cowden Syndrome 6 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Proteus Syndrome |
|
Splenomegaly, Hyperkeratosis |
OMIM:176920 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Synophrys, Annular pancreas, Hypertrichosis |
ORPHA:97297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Low posterior hairline |
ORPHA:264450 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancre... |
ORPHA:2255 |
Alström Syndrome |
|
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
ORPHA:64 |
Goodpasture Syndrome |
|
Pallor, Weight loss |
OMIM:233450 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Multiple renal cysts,... |
ORPHA:567 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, E... |
ORPHA:273 |
Sarcoidosis |
|
Hepatomegaly, Facial palsy, Portal hypertension, Abnormal liver parenchyma morphology, Decreased ... |
ORPHA:797 |
Digeorge Syndrome |
|
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... |
OMIM:188400 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 1-minute APGAR score, Low 5-minute APGAR score, Pallor |
ORPHA:99125 |
Williams Syndrome |
|
Cryptorchidism, Multiple renal cysts, Cholelithiasis, Polycystic ovaries |
ORPHA:904 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Pericardial effusion, A... |
ORPHA:79318 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... |
ORPHA:744 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Enlarged polycystic ovaries, Abn... |
ORPHA:201 |
Ovarian Cancer |
|
Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Colorectal Cancer |
|
Uterine leiomyosarcoma |
OMIM:114500 |
Breast Cancer |
|
|
OMIM:114480 |