Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... |
ORPHA:29073 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Short neck, Micrognathia, High palate, Abnormality of the uterus, Hypocalcemia, Abnormal fallopia... |
ORPHA:1655 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Short neck, Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepa... |
OMIM:235255 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf... |
ORPHA:2332 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Avascular necr... |
ORPHA:61 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral densit... |
ORPHA:2370 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Anteriorly placed anus, Oligodontia, Microdontia, Abnormality of the female ... |
ORPHA:2315 |
Winchester Syndrome |
|
Arthropathy, Corneal opacity, Kyphosis, Hirsutism, Gingival overgrowth, Osteolysis involving tars... |
OMIM:277950 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint... |
ORPHA:577 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99977 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoa... |
OMIM:235510 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... |
ORPHA:96169 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Cleft upper lip, Vesicoureteral ... |
OMIM:244600 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... |
OMIM:618845 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Precocious puberty, Small hand, Short foot, High palate, Short philtrum, Scoliosis,... |
ORPHA:254531 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... |
ORPHA:398063 |
Temple Syndrome |
|
Hypertriglyceridemia, Micrognathia, Precocious puberty, Cryptorchidism, Flexion contracture, Smal... |
OMIM:616222 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Precocious puberty, Cryptorchidism, Pyloric stenosis, Small hand, Cleft palate, Sho... |
ORPHA:96184 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Prec... |
ORPHA:528 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Single transverse palmar crease, Micrognathia, Tremor, C... |
OMIM:608093 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Micrognathia, Hemivertebrae, Finger clinod... |
ORPHA:99776 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Leukopenia, Vesicoureteral reflux, Micropenis... |
OMIM:301056 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Truncus arte... |
OMIM:615583 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft... |
ORPHA:2345 |
Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis,... |
ORPHA:87876 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism,... |
ORPHA:377 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... |
ORPHA:93315 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod... |
OMIM:618348 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... |
OMIM:201000 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatospl... |
OMIM:619013 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, V... |
OMIM:269920 |
Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fing... |
ORPHA:79320 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Clubbing, Iron deficiency anemia, Clubbing o... |
OMIM:226300 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Prominent floa... |
OMIM:152800 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Abnormality of the dent... |
OMIM:182290 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... |
ORPHA:819 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Coarse hair, Na... |
OMIM:253220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... |
OMIM:606612 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Minimal chan... |
OMIM:616730 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... |
OMIM:617872 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob... |
ORPHA:79327 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... |
OMIM:608104 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vesicoureteral ref... |
OMIM:610443 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Ge... |
ORPHA:354 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity |
ORPHA:351 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Abnormal dental enamel morphology, H... |
ORPHA:582 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow... |
ORPHA:633 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Leukopen... |
OMIM:617303 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... |
OMIM:154230 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... |
OMIM:274000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypocholester... |
OMIM:610539 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusi... |
OMIM:109400 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c... |
OMIM:194190 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or minim... |
ORPHA:66637 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... |
ORPHA:64743 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Foot joi... |
ORPHA:90321 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, H... |
OMIM:607014 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... |
ORPHA:97360 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Widel... |
ORPHA:579 |
Roifman Syndrome |
|
Hepatomegaly, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Single t... |
OMIM:616651 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Esophageal carcinoma, Lymphadenopathy, Gastroesophageal reflux, Clinodactyly o... |
ORPHA:99976 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... |
OMIM:277900 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Malabsorption, Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinem... |
ORPHA:1116 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinu... |
OMIM:607155 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Azoospe... |
ORPHA:1445 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Brachydactyly, Biconvex vertebral bodies, Hypogonadotropic hypogona... |
ORPHA:353298 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, narrow... |
ORPHA:2409 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea... |
OMIM:166300 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Abnorma... |
ORPHA:534 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Sho... |
ORPHA:373 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... |
OMIM:603553 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Tapered finger, Micrognathia, Kyphosis, Hypoplasia of the iris, Joint h... |
ORPHA:2479 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation... |
ORPHA:2741 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Corneal opacity, Abnormal dental... |
ORPHA:2323 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Cryptorchidism, Joint st... |
ORPHA:3027 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Gastric varix, ... |
OMIM:613490 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... |
ORPHA:90362 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, ... |
OMIM:618347 |
Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of ga... |
ORPHA:79237 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr... |
ORPHA:509 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormal dental morphology, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Malar... |
ORPHA:2522 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Highly arched eyebrow, Tapered f... |
ORPHA:401923 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein co... |
OMIM:612852 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... |
ORPHA:1830 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Alopecia, Elevated hepatic transaminase, Hypogonadotropic hypogonadism... |
OMIM:235200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... |
OMIM:272460 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphad... |
ORPHA:100025 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat... |
OMIM:270400 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ... |
OMIM:619750 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... |
OMIM:256300 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Tremor, Splenomegaly... |
ORPHA:812 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Thick hair, Hepatosplenomegaly, Ci... |
ORPHA:263501 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Hurler Syndrome |
|
Short neck, Endocardial fibroelastosis, Abnormal vertebral morphology, Generalized hirsutism, Hep... |
ORPHA:93473 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse... |
OMIM:618961 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Dextro... |
OMIM:613686 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Cardiomegaly, Short neck, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... |
ORPHA:2501 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:616050 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Intrahepa... |
OMIM:214110 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congeni... |
ORPHA:2617 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... |
OMIM:253200 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaph... |
OMIM:252500 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L... |
OMIM:148050 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Iris colo... |
ORPHA:959 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia,... |
OMIM:619487 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Micrognathia, Abnormality of the spleen, Anorectal anomaly, Renal cyst, Abnormal form... |
ORPHA:1834 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syn... |
OMIM:252920 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Tremor, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fi... |
OMIM:212065 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
OMIM:603552 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Vesicoureteral reflux, Atrial s... |
OMIM:118450 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Bifid uvula, Long ... |
OMIM:222470 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex... |
OMIM:607015 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Neurogenic bladder, Bicuspid aortic valve, Ventricular septal ... |
OMIM:130720 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Esophag... |
ORPHA:367 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoac... |
OMIM:619991 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Re... |
ORPHA:172 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Gastroesophageal reflux, Short philtr... |
ORPHA:79324 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism... |
ORPHA:1724 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Bone pain, Osteolytic d... |
OMIM:161700 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Metaphyseal widening, Thick upper lip vermilion,... |
OMIM:239850 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Weakness of the intrins... |
ORPHA:488650 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... |
ORPHA:508498 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period... |
ORPHA:79259 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Ventricular septal defect, Cor... |
ORPHA:912 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... |
OMIM:609053 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... |
OMIM:602271 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, ... |
OMIM:253250 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Scoliosis, Dystonia,... |
OMIM:208920 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Ectopic kidney, Short neck, Micrognathia,... |
ORPHA:233 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Limbal dermoid, Open mouth, Mandibular hyperostosis, Spinal canal s... |
OMIM:176920 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... |
OMIM:607323 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing ... |
OMIM:602579 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hepatomegaly, Hypogonadotropic hypogonad... |
ORPHA:465508 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Kyphoscoliosis, Splenomegaly, Hypertric... |
OMIM:616354 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Conjunctivitis, ... |
ORPHA:505248 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Generalized hypertrichosis, Gingival ... |
ORPHA:93399 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Metatarsus adductus, S... |
ORPHA:584 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Develo... |
OMIM:618815 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ventricu... |
OMIM:617159 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,... |
ORPHA:581 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:540 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Short long bone, Gingival overgrowth, Hepatosplenom... |
ORPHA:79255 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Hip dysplasia, Scol... |
OMIM:617183 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Thrombocytopeni... |
ORPHA:290 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Arachnodactyly, Genu recurvatum, Micrognathia, Low anterior hairline, G... |
OMIM:249310 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
ORPHA:26793 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Absent external genitalia, Missing ribs, Short neck, Rib fusio... |
OMIM:271520 |
Chops Syndrome |
|
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux... |
OMIM:616368 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Stiff neck, Cardiom... |
OMIM:617022 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal ... |
ORPHA:2092 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Micrognathia, Abnorma... |
ORPHA:818 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abn... |
ORPHA:1414 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Short neck, Accelerated skeletal maturation, Mic... |
OMIM:245600 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Macroscop... |
ORPHA:251004 |
Fryns Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, High palate, Gastroesophageal reflux, Vesic... |
ORPHA:2059 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... |
OMIM:607330 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... |
ORPHA:488632 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Rhizomelia, Iliac crest serration, H... |
ORPHA:239 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... |
OMIM:616549 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospa... |
OMIM:206900 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Delayed skeletal maturation, Elbow fle... |
OMIM:618440 |
Williams Syndrome |
|
Osteopenia, Abnormal form of the vertebral bodies, Nephrocalcinosis, Microdontia, Hypogonadotropi... |
ORPHA:904 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemi... |
ORPHA:99828 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Cantú Syndrome |
|
Cardiomegaly, Short neck, Accelerated skeletal maturation, Low anterior hairline, Broad ribs, Gen... |
ORPHA:1517 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, Flat capital femoral ep... |
OMIM:252605 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a... |
OMIM:618805 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Decreased serum iron, Carious teeth, Narrow mouth, Esophageal ... |
ORPHA:89842 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... |
OMIM:241600 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Smooth philtrum, Elevated circulating creatine kinas... |
OMIM:608799 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fus... |
OMIM:214300 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin vermilion bor... |
OMIM:608540 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno... |
OMIM:602390 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
Zimmermann-Laband Syndrome |
|
Short neck, Micrognathia, Overtubulated long bones, High palate, Bifid uvula, Hepatomegaly, Abnor... |
ORPHA:3473 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Mic... |
ORPHA:2457 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... |
ORPHA:14 |
Wilson Disease |
|
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of the... |
ORPHA:905 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Neuropathic arthropathy, Elevated circulating creatinine concentration, Hypogeusia, Gastroesophag... |
OMIM:223900 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar apla... |
ORPHA:96061 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, High palate, Lumbar hemivertebra... |
ORPHA:2463 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Griscelli Syndrome |
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Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline |
OMIM:617523 |
Morgagni-Stewart-Morel Syndrome |
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Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... |
ORPHA:77296 |
Mucopolysaccharidosis, Type Iiic |
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Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... |
OMIM:252930 |
Bartsocas-Papas Syndrome |
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Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Median cleft lip, Absent th... |
ORPHA:1234 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Microgastria-Limb Reduction Defect Syndrome |
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Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Atrial septal def... |
ORPHA:2538 |
Cronkhite-Canada Syndrome |
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Intestinal polyposis, Hepatomegaly, Alopecia, Cataract, Tapered finger, Malabsorption, Splenomega... |
ORPHA:2930 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Osteopenia, Hyperphosphaturia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Ab... |
OMIM:163200 |
Nephrotic Syndrome, Type 2 |
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Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
H Syndrome |
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Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Cleft upper lip, Delayed skeletal maturat... |
ORPHA:168569 |
Atelosteogenesis, Type I |
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Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
Familial Cold Autoinflammatory Syndrome 2 |
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Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... |
OMIM:611762 |
Erythrokeratodermia Variabilis |
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Alopecia, Cataract, Corneal opacity, Tapered finger, Abnormal hair morphology, Patchy palmoplanta... |
ORPHA:317 |
Distal Duplication 18Q |
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Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Short neck, ... |
ORPHA:1716 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Widow'... |
OMIM:227330 |
Kerion Celsi |
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Alopecia, Lymphadenopathy |
ORPHA:499 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft palate, Low posterior hairl... |
OMIM:118100 |
Gaucher Disease |
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Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost... |
ORPHA:355 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Fucosidosis |
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Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
Infantile Liver Failure Syndrome 3 |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Orthostatic Hypotension 1 |
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Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... |
OMIM:223360 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... |
OMIM:226990 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Carpenter Syndrome |
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Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... |
ORPHA:65759 |
Aredyld Syndrome |
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Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Smooth philtrum, Abnormal dental ... |
ORPHA:1133 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Elevated circulating C-reactive p... |
ORPHA:49041 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Galloway-Mowat Syndrome 8 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Reticuloendotheliosis, X-Linked |
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Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Wolcott-Rallison Syndrome |
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Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, El... |
ORPHA:1667 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Fish-Eye Disease |
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Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Frontometaphyseal Dysplasia 2 |
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Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... |
OMIM:617137 |
Wolf-Hirschhorn Syndrome |
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Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downt... |
ORPHA:280 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Cryptorchidism, Hip dysplasia, 3-... |
ORPHA:496790 |
Mucous Membrane Pemphigoid |
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Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, ... |
ORPHA:37042 |
Syndromic Recessive X-Linked Ichthyosis |
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Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Cry... |
ORPHA:281090 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Juberg-Hayward Syndrome |
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Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp... |
ORPHA:2319 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hereditary Bullous Dystrophy, Macular Type |
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Alopecia, Cataract, Congenital abnormal hair pattern, External genital hypoplasia, Corneal opacit... |
ORPHA:1867 |
Morquio Syndrome C |
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Platyspondyly, Corneal opacity |
OMIM:252300 |
Laryngeal Neuroendocrine Tumor |
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Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Chronic noninfectious lymphad... |
ORPHA:100083 |
Pfapa Syndrome |
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Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Arthritis, Abnormal oral cavity morph... |
ORPHA:42642 |
Pycnodysostosis |
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Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Mosaic Trisomy 1 |
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Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Orofacial cleft, Finger clinodac... |
ORPHA:1692 |
8Q21.11 Microdeletion Syndrome |
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Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... |
ORPHA:284160 |
Aicardi Syndrome |
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Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Precocious pub... |
ORPHA:50 |
Distal Deletion 6P |
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Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Vertebral seg... |
ORPHA:96125 |
Farber Disease |
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Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Hepatic fibrosis, Abnormali... |
ORPHA:333 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Met... |
ORPHA:2788 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Neuraminidase Deficiency |
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Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... |
OMIM:256550 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Multiple Sulfatase Deficiency |
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Smooth philtrum, Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, ... |
ORPHA:585 |
Hajdu-Cheney Syndrome |
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Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, B... |
ORPHA:955 |
Alpha-Mannosidosis, Infantile Form |
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Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Oligosacchariduria, Cortical thick... |
ORPHA:309282 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Recurrent fractures, Splenomegaly, Aminoaciduria, Abnormal metaphysis morphology |
ORPHA:417 |
Cholestasis-Lymphedema Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Cornelia De Lange Syndrome 1 |
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Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... |
OMIM:122470 |
Galactosemia Iii |
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Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Dyskeratosis Congenita |
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Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, White hair, Premature g... |
ORPHA:1775 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Conjugated hy... |
OMIM:614866 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, Abnormal intestine... |
ORPHA:397596 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis... |
OMIM:274150 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela... |
OMIM:613320 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Ac... |
OMIM:618419 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Sandwich appearance o... |
OMIM:259700 |
Al Amyloidosis |
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Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Niemann-Pick Disease, Type B |
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Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Scheie Syndrome |
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Mandibular prognathia, Corneal opacity, Short neck, Genu valgum, Aortic valve stenosis, Spondylol... |
OMIM:607016 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ... |
OMIM:617796 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hiatus hernia, Micrognat... |
OMIM:251300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ... |
OMIM:619534 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... |
ORPHA:171 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Singl... |
OMIM:229850 |
Focal Segmental Glomerulosclerosis 6 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced hapto... |
OMIM:612126 |
Immunodeficiency 47 |
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Accessory spleen, Hepatomegaly, Normocytic anemia, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Myopathy With Extrapyramidal Signs |
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Extremely elevated creatine kinase, Hepatomegaly, Joint laxity, Elevated hepatic transaminase, Ve... |
OMIM:615673 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Recurrent fractures, Bone pain, Abnormal lymph node morpho... |
ORPHA:319487 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormali... |
ORPHA:1451 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Hypoalbuminem... |
ORPHA:79076 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic kidney, Abno... |
ORPHA:887 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Post... |
OMIM:619471 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney... |
OMIM:615630 |
Gaucher Disease Type 1 |
|
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... |
ORPHA:77259 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi... |
ORPHA:3472 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Highly arched eyebrow, Acc... |
OMIM:617190 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
Marden-Walker Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... |
OMIM:248700 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Back pain, Abnormal pericardium morphology, Abnormal stomach morp... |
ORPHA:2357 |