Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Aggressive behavior |
OMIM:618808 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalbuminemia, Increased serum bil... |
OMIM:619868 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Esophageal varix |
ORPHA:75234 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... |
OMIM:617126 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Velopharyngeal insufficiency, Synophrys, Self hugging, Head-... |
OMIM:182290 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... |
ORPHA:897 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Bone cyst,... |
ORPHA:528 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Anorexia, Malabsorption, Xerostomia, Hamartomatous polyp... |
OMIM:175500 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L... |
OMIM:618362 |
Cog4-Cdg |
|
Thick hair, Hepatosplenomegaly, Hypercholesterolemia, Recurrent infection of the gastrointestinal... |
ORPHA:263501 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Blue irides, Compulsive behav... |
OMIM:261600 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Gastroesophageal reflux, Hirsutism, Bruxism |
OMIM:300434 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia, Hirsutism |
ORPHA:77296 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Hypomagn... |
ORPHA:398063 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small ... |
OMIM:610644 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Temple Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Cleft palate, Bifid uvula, High palate,... |
OMIM:616222 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, High palate |
ORPHA:254531 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Albinism |
ORPHA:2786 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morp... |
ORPHA:2457 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft palate, High palate, Hypercholesterol... |
ORPHA:96184 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:300406 |
Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia,... |
ORPHA:177910 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... |
ORPHA:79477 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Anemia, Intestinal atresia |
ORPHA:3405 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Synophrys, Cleft palate, Self-injurious behavior, Gastr... |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... |
OMIM:619927 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... |
ORPHA:411515 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... |
ORPHA:3440 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Low posterior hairlin... |
OMIM:619227 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Neuhauser Syndrome |
|
Osteopenia, Low anterior hairline, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... |
ORPHA:894 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Albinism, Total intestinal aganglionosis, ... |
OMIM:600501 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... |
OMIM:619662 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Pyloric ste... |
ORPHA:381 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... |
ORPHA:2884 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Hypospadias, Cryptorchidism, Blue irides, Advanced ossification of carpal bones, R... |
OMIM:614613 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis |
ORPHA:633 |
Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Synophrys, Long penis, Meckel diverticulum |
OMIM:190440 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... |
ORPHA:79240 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Thick hair, Highly arched eyebrow |
ORPHA:401923 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of galactitol in plasma, Hype... |
ORPHA:79237 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... |
ORPHA:2221 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism, Decreased LD... |
OMIM:618156 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Osteopenia, Hyperlipidemia, High palate, Osteolytic defe... |
OMIM:248370 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Decreased serum iron, Colitis, Uncombable hair, Sparse hair, Wooll... |
OMIM:614602 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Acholic stools, Hypocholestero... |
OMIM:607765 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Obesity And Hypopigmentation |
|
Red hair, Polyphagia |
OMIM:620195 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate |
OMIM:616730 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal ... |
ORPHA:228402 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, H... |
OMIM:300514 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, M... |
ORPHA:90674 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He... |
ORPHA:103910 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Osteoporosis,... |
OMIM:613989 |
Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:603467 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Abnormal repetitive mannerisms, High palate |
ORPHA:2479 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Narrow palate, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Self-injurious behavior, Attention deficit hyperactivity disorder, Hype... |
ORPHA:79254 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Inapprop... |
ORPHA:411511 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Multiple cafe-au-lait sp... |
ORPHA:100 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypercholesterolemia, Hypopituitarism, Addictive alcohol use |
ORPHA:90065 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Enterocoliti... |
ORPHA:79259 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Hypopigmentation of hair, Gastroesophageal reflux, Dysph... |
ORPHA:70472 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External geni... |
ORPHA:398079 |
Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia, Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Frontal upsweep of hair, Mi... |
OMIM:617798 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Splenomegaly, Synophrys, Coarse hair, Dense calvaria, Hirsutism |
OMIM:252920 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Fat malabsorption, Hypocholesterolemia |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia,... |
OMIM:608104 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, High palate, Cleft palate |
OMIM:618348 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented... |
OMIM:613266 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Tiger tail ba... |
OMIM:616395 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia |
OMIM:617784 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Dysphagia, Dense calvaria, Hirsutism, Hypert... |
OMIM:252930 |
Fryns Syndrome |
|
Hypoplastic fingernail, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidis... |
ORPHA:2059 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thru... |
ORPHA:98794 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... |
ORPHA:3322 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Gastroes... |
ORPHA:398069 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repet... |
ORPHA:534 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Malabsorption, Hypogonadotropic hypogonadism, Villous atrophy |
OMIM:600955 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Steatorrhea |
ORPHA:3217 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, White hair, Fine hair, Reduced bone mineral density, Lympho... |
ORPHA:935 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Co... |
OMIM:304790 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Hypoalbuminemia, Protein-losing enteropathy |
ORPHA:79327 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Cholelithiasis, Hepatocellular carcinoma, Neoplasm of the liver |
ORPHA:69663 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertrophy, Polycyst... |
OMIM:151660 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... |
ORPHA:1199 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98793 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Cryptorchidism, Splenomegaly, Low anterior hairline, Low posterior hairline, Macro... |
OMIM:618440 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177904 |
Feingold Syndrome |
|
Esophageal atresia, Annular pancreas, Abnormality of the spleen, Duodenal atresia |
ORPHA:1305 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Sparse hair... |
ORPHA:1775 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Tongue thrusting, Dysphagia, Hypopigmentation of the... |
ORPHA:98795 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98754 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Increased mean platelet volum... |
ORPHA:84064 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal malrotat... |
OMIM:229850 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Dense calvaria, Hirsutism |
OMIM:252900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, High palate, Abnor... |
ORPHA:1655 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... |
ORPHA:79076 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Paronychia, Duodenitis, Onychogryposis |
OMIM:614328 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Sparse hair, Cafe-au-lai... |
OMIM:614114 |
Distal Deletion 12Q |
|
Hyperactivity, Unilateral cryptorchidism, High, narrow palate, Pituitary adenoma, Esophageal atre... |
ORPHA:96149 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the... |
OMIM:618541 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Hypopigmented skin patches,... |
ORPHA:53271 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Osteolysis, Cleft palate, Multiple cafe-au-lait spots, Ac... |
ORPHA:1052 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Pancreatic steatosis, Crypt... |
OMIM:617052 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Hyperca... |
ORPHA:913 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Cleft palate, High palate, Hypocalcemi... |
OMIM:235255 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... |
OMIM:214500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Hypoalbuminemia, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu... |
OMIM:619381 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid co... |
ORPHA:79303 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Small scrotum, Decreased response to growth hormone stimula... |
ORPHA:739 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hypoalbuminemia, Protein-losing enteropathy |
ORPHA:79319 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Leukemia, Ambiguous genitalia, Micropen... |
OMIM:257300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Gast... |
ORPHA:464306 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ... |
OMIM:160980 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Panhypopituitarism, Duodenal atresia |
ORPHA:280200 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Widow's peak, Furrowed tongue, High palate, Gastroesophageal reflux,... |
OMIM:616975 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Jacobsen Syndrome |
|
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus, Aplasia/Hypopl... |
ORPHA:2308 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased res... |
OMIM:176270 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hor... |
ORPHA:273 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone... |
ORPHA:652 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Pilomatrixoma, Adenomat... |
ORPHA:79665 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchidism, High, narrow ... |
ORPHA:96169 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Abnormal fallopian tube morphology, A... |
ORPHA:722 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Cryptorchidism, Rectal prolapse, Narrow palate, Coronal craniosynostosis, Hypoalbu... |
OMIM:235510 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Ileus... |
ORPHA:163746 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal |
ORPHA:139466 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Anorexia, Malabsorption... |
OMIM:557000 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism, Micropenis |
OMIM:619471 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia |
OMIM:243605 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Cryptorchidism, Posterior pituitary hypoplasia, Gastroesophageal reflux, Attention d... |
ORPHA:464311 |
Focal Dermal Hypoplasia |
|
Alopecia, Coarse metaphyseal trabecularization, Abnormality of skin pigmentation, Gastroesophagea... |
ORPHA:2092 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Anorexia, Malabsorption,... |
ORPHA:79430 |
Diets-Jongmans Syndrome |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Attention deficit hyperactivity disorder, Duode... |
OMIM:618846 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... |
ORPHA:261584 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... |
ORPHA:3214 |
Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigm... |
OMIM:619488 |
Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Duodenal ulcer, Low posterior hairline, Thin bony cortex |
OMIM:605822 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypocalcemia, ... |
OMIM:618183 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Duodenal ulcer |
OMIM:217090 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Craniosynostosis, Cryptorchidism, Self-injurious behavior, Microphallus, Abnormal re... |
ORPHA:468631 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... |
OMIM:164280 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Abnormality of retinal pigm... |
ORPHA:14 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... |
ORPHA:177907 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Villous atrophy, Autoimmu... |
OMIM:614162 |
Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albini... |
OMIM:242840 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Pilomatrixoma, Adenomatous colonic polyposis, Esoph... |
ORPHA:247806 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Fat malabsorption, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Aplasia/Hypoplasia of the eyebrow, Breast ... |
ORPHA:238468 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Coffin-Siris Syndrome 1 |
|
Dry hair, High palate, Compulsive behaviors, Clitoral hypertrophy, Hypospadias, Cryptorchidism, I... |
OMIM:135900 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cle... |
OMIM:265380 |
Whim Syndrome |
|
Abnormal small intestine morphology, Abnormal neutrophil morphology, Neutropenia, Cervix cancer, ... |
ORPHA:51636 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Duodenal atresia |
OMIM:247200 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Gastro... |
ORPHA:2929 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Pigmentary retinopathy, Dysphagia, Sparse hair, Hypercho... |
OMIM:606721 |
Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, High palate, Abnormal... |
ORPHA:84 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Charge Syndrome |
|
Hypoparathyroidism, Anal stenosis, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
OMIM:214800 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Cleft palate, Glossoptosis, ... |
ORPHA:2886 |
Brittle Cornea Syndrome |
|
Osteoporosis, Abnormality of hair pigmentation, Cleft palate |
ORPHA:90354 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Pituitary aden... |
ORPHA:733 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Polydipsia, Biliary hyperplasia, P... |
ORPHA:731 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy, Hepatocellular carcinoma |
OMIM:118450 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Retinal pigment ... |
OMIM:219800 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Aganglionic megacolon, Abnormal eyela... |
ORPHA:818 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Dextrocardia |
|
Intestinal malrotation, Abnormal reproductive system morphology, Abnormality of the spleen, Pancr... |
ORPHA:1666 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Cat Eye Syndrome |
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Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly, Xanthelasma, Acholic stools, Fa... |
ORPHA:30391 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate, Shawl scrotum |
ORPHA:1974 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidis... |
OMIM:219000 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Asplenia, Hypoplastic toenails, Polysplenia, Anal atresia, Duodenal atresia |
OMIM:306955 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Hypoplasia of the small intestine, Poly... |
OMIM:200995 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Menkes Disease |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Osteoporosis, Sparse hair, ... |
ORPHA:565 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating f... |
OMIM:619534 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... |
OMIM:107480 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hypocal... |
OMIM:619991 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Anal stenosis, Small scrotum, Enlarged labia minora, Cryptorchidism, Malrotati... |
OMIM:606170 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... |
OMIM:601776 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |