Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Obesity, Renal cyst |
OMIM:615987 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Urinary incontinence, Accessory oral frenulum, Single transverse palma... |
OMIM:617927 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Renal agenesis, Cleft palate, Upper limb phocomelia, Polyd... |
ORPHA:294975 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... |
OMIM:613091 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Short stature, Renal hypoplasia/aplasia, Long penis, Orofa... |
ORPHA:1988 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyp... |
OMIM:613885 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Obesity, Renal cyst, Polydac... |
OMIM:615982 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly, Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney, Obesity |
OMIM:615988 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Large hands, Everted lower lip vermilion, Decreased body weight |
ORPHA:1672 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... |
OMIM:615993 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Preaxial polydactyly, Obesity, Delayed puberty |
ORPHA:141333 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Cachexia, Renal hypoplasia/aplasia, Tapered finger, Thin vermi... |
ORPHA:1438 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatoce... |
OMIM:619902 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,... |
OMIM:617866 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Obesity, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis... |
OMIM:181180 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P... |
OMIM:618142 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Nephronophthisis 15 |
|
Polydactyly, Obesity, Nephronophthisis |
OMIM:614845 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis... |
OMIM:263200 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Tapered finger, Urethral stenosis, Orofacial ... |
ORPHA:261290 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Wrist swelling, Downturned corners of mouth, Slen... |
ORPHA:2774 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Cen... |
OMIM:617926 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... |
ORPHA:85445 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Renpenning Syndrome |
|
Severe short stature, Macrodontia, Hypospadias, Cachexia, Abnormal thumb morphology, High, narrow... |
ORPHA:3242 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Arachnodactyly, Cachexia |
ORPHA:1144 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta... |
ORPHA:474 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysplasia, Long ... |
OMIM:608776 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease... |
OMIM:618161 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormali... |
ORPHA:1133 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia... |
OMIM:613390 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Abnormal palate morphology |
ORPHA:1389 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Cleft palate, Horses... |
OMIM:614815 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... |
OMIM:613662 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia |
OMIM:211890 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Short stature, Shoulder flexion contracture, Rocker bottom foot, Ca... |
OMIM:619110 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera... |
OMIM:113650 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Single transverse palmar crease, Cubitus valgus, Metatarsus adductus, Cleft palate,... |
OMIM:214110 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Tapered finger, Splenomegaly, Hypoge... |
ORPHA:2930 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Failure to thrive, Mesoaxial polydactyly, Renal agenesis, Short stature, Hamartoma of... |
ORPHA:2754 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia... |
OMIM:611555 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Hypokalemia... |
OMIM:175500 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T... |
OMIM:612651 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph... |
ORPHA:2756 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss |
ORPHA:141152 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping ... |
ORPHA:85293 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... |
ORPHA:90652 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increa... |
OMIM:154230 |
Joubert Syndrome 39 |
|
Overweight, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal cyst, Cleft p... |
OMIM:603194 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
3Mc Syndrome 3 |
|
Short stature, Cleft upper lip, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Cleft palat... |
OMIM:248340 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ... |
OMIM:611561 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Squared iliac bon... |
OMIM:616300 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Abnormality of th... |
DECIPHER:46 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Open bite, Dental malocclusion, Short philtrum, Abnormal palate morpholo... |
ORPHA:2471 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Large for gestational age, Dilatation of the renal pel... |
ORPHA:314588 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S... |
OMIM:311200 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... |
ORPHA:884 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Trisomy 4P |
|
Smooth philtrum, Hypospadias, Camptodactyly of finger, Short stature, Abnormality of the dentitio... |
ORPHA:1738 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha... |
OMIM:606242 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Cleft palate, ... |
OMIM:608022 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst |
OMIM:605231 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Metaphyseal widening, Short long bone, Narrow greater sciatic notch,... |
OMIM:263210 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation |
ORPHA:3032 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Clef... |
OMIM:616730 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachexia, Wide mouth,... |
ORPHA:217346 |
Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:231060 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial f... |
OMIM:607361 |
Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Malabsorption, Splenomega... |
ORPHA:77297 |
Silver-Russell Syndrome |
|
Dental crowding, Hypospadias, Cachexia, Failure to thrive in infancy, Sandal gap, Short stature, ... |
ORPHA:813 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma... |
OMIM:200980 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Verheij Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Small for gestational age, Short stature, Hip dislocati... |
OMIM:615583 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m... |
ORPHA:96149 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Post... |
OMIM:216360 |
Senior-Loken Syndrome |
|
Short stature, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Nep... |
ORPHA:3156 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda... |
OMIM:236700 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Multiple renal cysts, Abno... |
ORPHA:1166 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni... |
OMIM:243910 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h... |
OMIM:615994 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Ob... |
OMIM:615630 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Oral ulcer, Nephrolithias... |
OMIM:232220 |
Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts, Gastroesophageal reflux, Increas... |
ORPHA:2924 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... |
OMIM:601389 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Obesity... |
OMIM:615996 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... |
DECIPHER:81 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss |
ORPHA:52416 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Micropenis, Short statu... |
OMIM:134780 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614870 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Dental crowding, Short stature, Postnatal growth retardation, Upper li... |
ORPHA:231140 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur... |
ORPHA:1933 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Thin upper lip vermilion, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger... |
OMIM:616801 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal... |
ORPHA:2970 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Short stature, Cachexia, Thick lower lip vermilion, Hip dislocation, Patellar apl... |
ORPHA:2058 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl... |
ORPHA:2549 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Severe postnatal g... |
ORPHA:2237 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Single transverse palmar crease, Arachno... |
OMIM:618348 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Gingival overgrowth, Narrow palate, 2-3 toe syndactyly, Gastroesophageal reflux, Thick ... |
OMIM:618186 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Renal dysplasia, Postaxial polydactyly, Obesity |
OMIM:615985 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single... |
ORPHA:3033 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, Bullet-shaped d... |
ORPHA:1617 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephr... |
OMIM:616629 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul... |
OMIM:276700 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Arachnodactyly, Short stat... |
ORPHA:371364 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growth delay, Focal se... |
OMIM:232200 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tub... |
ORPHA:79259 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Ante... |
OMIM:619980 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Short stature, Dental malocclusion, Renal cyst, Foot acroost... |
OMIM:102500 |
Diaphanospondylodysostosis |
|
Narrow pelvis bone, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Renal hypoplasia, Postaxial polydactyly, Obesity |
OMIM:600151 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Hepatomegaly, Mult... |
ORPHA:2538 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, High palate, Hepatome... |
OMIM:614866 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Scapular winging, Elevated circulating creatine kinase concentration, Elevated circ... |
ORPHA:26791 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small ... |
OMIM:200995 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Macroglossia, Nephrotic ... |
OMIM:617303 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Micromelia, Aplastic clavicle, Postaxial polydactyl... |
OMIM:616546 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Abnormality of... |
ORPHA:298 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Meckel Syndrome, Type 1 |
|
Lobulated tongue, Syndactyly, Cleft upper lip, Elevated amniotic fluid alpha-fetoprotein, Postaxi... |
OMIM:249000 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Obesity, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, High palate, Hypomagnesemia, Nocturia, Brachydactyly |
OMIM:223360 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ... |
OMIM:243605 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... |
OMIM:192350 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Steatorrhea |
ORPHA:75233 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Short palm, Brachydactyly |
ORPHA:3217 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Clef... |
OMIM:244600 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Gastroesophageal reflux, Short... |
ORPHA:2044 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ... |
ORPHA:3098 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Short stature, Hypospadias, Cleft palate |
OMIM:302905 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hypo... |
OMIM:602579 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post... |
OMIM:615986 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ... |
OMIM:277170 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarge... |
OMIM:615415 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Christianson Syndrome |
|
Adducted thumb, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Trisomy X |
|
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Progressive alveolar rid... |
OMIM:252500 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Short stature, Cleft palate, Horseshoe kidney, Growth delay, Nephroblastoma |
OMIM:617598 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno... |
ORPHA:79076 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Intestinal Dysmotility Syndrome |
|
Weight loss, Decreased intestinal transit time, High palate, Failure to thrive, Broad philtrum |
OMIM:620045 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cachexia, Esophag... |
ORPHA:3380 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Peptic ulcer, Parathormone-independent increased renal tubula... |
OMIM:600740 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Abnormal thumb morpho... |
ORPHA:500095 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Abnormal localization... |
ORPHA:921 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Short stature, Abnormality of the kidney, Cleft upper lip, M... |
ORPHA:168569 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach... |
OMIM:613819 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cleft palate, Wide mouth, Ectopic anus... |
ORPHA:1703 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Dental malocclusion, 2-3 toe syndactyly, Large hands, Gastroesophageal... |
OMIM:606232 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Esophageal varix, ... |
ORPHA:53035 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Intestinal malrotation, Pancreatic cysts, Splenomegaly, Ureter... |
OMIM:208540 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts |
OMIM:263630 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Dental malocclusion, Abnormal shoulder... |
ORPHA:2115 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat... |
OMIM:252100 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Gastroesophageal reflux, Widely spaced teeth... |
OMIM:615873 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact... |
OMIM:615989 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoeso... |
ORPHA:1834 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Palmoplantar keratoderma, Abnormality of the upper limb, Narrow mouth, Abn... |
ORPHA:1979 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Growth delay, Inflammati... |
OMIM:266600 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hepatomegaly, Increased circulating thyroglobulin level, Hiatus hernia,... |
OMIM:610199 |
Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Obesity, Polydactyly, Micropenis |
OMIM:245800 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... |
ORPHA:73246 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Preaxial hand polydactyly, Deep phil... |
ORPHA:1297 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl... |
OMIM:258860 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia, Pancreatic cyst... |
ORPHA:1318 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Short stature, Cachexia, Abnormal circulating creatine concentration, Ileu... |
ORPHA:52503 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agene... |
OMIM:236500 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Clubbing, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... |
ORPHA:97362 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... |
OMIM:618950 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Thic... |
OMIM:220500 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod... |
ORPHA:210548 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Micropenis, Ab... |
ORPHA:1692 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Small for gestational age, Overlapping toe, Postaxial polydactyly, Tape... |
OMIM:613792 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy... |
OMIM:219730 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Reduced renal corticomedullary dif... |
ORPHA:731 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Weaver-Williams Syndrome |
|
Decreased body weight, Cleft palate, Narrow mouth |
ORPHA:3448 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, High palate, Wrist fle... |
ORPHA:800 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessor... |
ORPHA:2919 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypogeusia, Elevated circulating creatinine concentration, Growth delay, Gastroesophageal reflux,... |
OMIM:223900 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening of limbs, Synda... |
OMIM:146510 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn... |
ORPHA:1278 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Postnatal growth retardation, Pyloric stenosis, Small h... |
ORPHA:96184 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Small for gestational age, Hypospadias, Postnatal growth retardation, Cleft palate, S... |
ORPHA:397590 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Rectal prolapse, Long penis, Hyperc... |
ORPHA:508 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Short stature, Splenomegaly,... |
ORPHA:84064 |
Ulbright-Hodes Syndrome |
|
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Re... |
ORPHA:3404 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Postnatal growth retardation, Steatorrhe... |
ORPHA:79303 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl... |
OMIM:241800 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, G... |
OMIM:201000 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
Idiopathic Bronchiectasis |
|
Clubbing, Cachexia |
ORPHA:60033 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue morphology, Downturne... |
ORPHA:531151 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Cleft palate, Intrauterine grow... |
OMIM:611134 |
Tarp Syndrome |
|
Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
OMIM:311900 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Cleft palate, Slender long bone, Decreased body weight, Vesicoureteral reflux, Hyd... |
OMIM:618265 |
Schisis Association |
|
Renal agenesis, Small for gestational age, Micromelia, Tracheoesophageal fistula, Cleft palate, U... |
ORPHA:63862 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono... |
OMIM:616217 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnormality of... |
ORPHA:90321 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Hypoalbuminemia, Premature loss... |
OMIM:610965 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Gastroesophageal reflux, Cleft palate |
OMIM:612913 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, Horseshoe kidney, Postaxia... |
OMIM:612284 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Tapered finger, Bilateral cleft lip a... |
OMIM:618829 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Alg9-Cdg |
|
Villous atrophy, Gastroesophageal reflux, Narrow greater sciatic notch, Bifid uvula, Hepatomegaly... |
ORPHA:79328 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Gastroesophageal reflux, Hypocalcemia, Short philtrum, Vesicoureteral reflux, ... |
ORPHA:567 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo... |
ORPHA:84081 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Ileus, Cachexia, Weight loss |
ORPHA:83469 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... |
OMIM:618913 |
Attrv30M Amyloidosis |
|
Nephropathy, Weight loss, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Hypomagnesemia, Splenomegaly, I... |
ORPHA:37042 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Failure to thrive, Esophageal varix, Tubulointerstitial fibrosis |
OMIM:232500 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... |
OMIM:206920 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym... |
ORPHA:1540 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Accessory oral frenulum, Micromeli... |
OMIM:211750 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Postaxial hand polydactyly, Cle... |
ORPHA:2075 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Prea... |
OMIM:617925 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephroblastoma, Ovarian serous cystadenoma, E... |
ORPHA:276280 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubi... |
OMIM:208500 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, High, n... |
OMIM:122470 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Ovarian cyst, Short lo... |
OMIM:618188 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short... |
OMIM:602152 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/... |
ORPHA:3015 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue f... |
OMIM:312870 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Hypospadias, Sandal gap, Postaxial polydactyly, Downtu... |
OMIM:615761 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Abnormal oral cavity morphology |
ORPHA:42642 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Abnormality of the upper urinary tract, Micromelia, Abnormality... |
ORPHA:2145 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,... |
ORPHA:1001 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cleft palate, Cleft upper lip |
OMIM:120433 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,... |
ORPHA:1225 |
Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Esophageal atresia, Ventral shortening of foreskin, Cleft palate, Uret... |
ORPHA:95706 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Short philtrum, Intrauterine growth ret... |
ORPHA:3305 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate... |
ORPHA:1856 |
Braddock Syndrome |
|
Short stature, Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardat... |
ORPHA:52047 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Short stature, Cone-shaped epiphysis, To... |
ORPHA:808 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for g... |
OMIM:615398 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia... |
ORPHA:1328 |
Burn-Mckeown Syndrome |
|
Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, 2-3 to... |
OMIM:608572 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia |
ORPHA:35125 |
Ogden Syndrome |
|
Congenital hip dislocation, Cardiomegaly, Deep philtrum, High palate, Short philtrum, Clinodactyl... |
OMIM:300855 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, Stage 5 chronic... |
OMIM:614099 |
Rett Syndrome |
|
Short stature, Cachexia, Abnormality of the dentition, Short foot, Gastroesophageal reflux |
OMIM:312750 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Abnormality of the philtrum, Short stature, Renal hypoplasia/aplasia, Non-midline ... |
ORPHA:1770 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Single transverse palmar crease, Abnormal me... |
ORPHA:79243 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... |
ORPHA:1106 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Short stature, Ha... |
ORPHA:2751 |
Joubert Syndrome 27 |
|
Polydactyly, Thick lower lip vermilion, Dilatation of the renal pelvis |
OMIM:617120 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Flynn-Aird Syndrome |
|
Carious teeth, Cachexia |
ORPHA:2047 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft ... |
OMIM:601076 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... |
ORPHA:439232 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Obesity, High palate, Micropenis, Hydronephrosis |
OMIM:619185 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert... |
OMIM:619736 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Short stature |
OMIM:210350 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, High, narrow palate, Weight l... |
ORPHA:98897 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha... |
ORPHA:110 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Abnormal ... |
ORPHA:3429 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malro... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht... |
OMIM:266920 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal cyst, Glossoptosis, Clinodactyly of the 5th fi... |
ORPHA:2031 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Postaxial hand polydactyly, Renal hypoplasia, C... |
ORPHA:85284 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Gingival overgrowth, Upper limb undergrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Post... |
OMIM:614576 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney, Obesity |
OMIM:613464 |
Marden-Walker Syndrome |
|
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab... |
ORPHA:2461 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation |
OMIM:616910 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... |
ORPHA:90650 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hemat... |
ORPHA:480520 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoe... |
ORPHA:59315 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Short stature, Flat c... |
OMIM:147891 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5... |
OMIM:239800 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the upper limb, Weight loss |
ORPHA:2023 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Failure to thrive in inf... |
ORPHA:313781 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... |
OMIM:603671 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Hepatoblast... |
ORPHA:116 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Short stature, Broad femoral neck, Bowing of the legs, Coxa valga, Metaphyseal wideni... |
OMIM:617164 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Epispadias, Preax... |
OMIM:615948 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Macroglossia, Nephrotic synd... |
ORPHA:505248 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal th... |
ORPHA:1842 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Neoplasm of the liver |
ORPHA:69077 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis |
OMIM:244200 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality o... |
ORPHA:261318 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Hepato... |
ORPHA:552 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys... |
OMIM:614862 |
Faciocardiorenal Syndrome |
|
Horseshoe kidney, Cleft palate, Hypodontia, Narrow mouth, Failure to thrive, Smooth philtrum |
ORPHA:1973 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Joubert Syndrome 10 |
|
Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Yao Syndrome |
|
Nephrolithiasis, Xerostomia, Oral ulcer, Weight loss |
OMIM:617321 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... |
OMIM:615560 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Short stature, Non-midline cleft... |
ORPHA:1784 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Renal cyst, Cleft palate, Growth delay, Short ... |
OMIM:614424 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... |
ORPHA:1507 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Metaphyseal chondrodysplas... |
OMIM:250410 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Obesity, Cleft palate, Hand polydactyly, Gastroes... |
ORPHA:261197 |
Marden-Walker Syndrome |
|
Hypospadias, Arachnodactyly, Postnatal growth retardation, High, narrow palate, Pyloric stenosis,... |
OMIM:248700 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Nephroblastoma, Polydactyly, Smooth philtrum |
OMIM:602501 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th... |
OMIM:268300 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu... |
OMIM:257300 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Cachexia, Malabsorption, Splenomegaly |
ORPHA:3452 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip d... |
OMIM:616362 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medull... |
OMIM:118450 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger... |
OMIM:107480 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplasia of the pectoralis... |
ORPHA:1358 |
Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postax... |
ORPHA:2886 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b... |
ORPHA:261494 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Esophageal varix, Hyperkalemia,... |
ORPHA:275761 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss |
ORPHA:654 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Malabsorption, Pyloric st... |
ORPHA:912 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... |
OMIM:119800 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Avasc... |
OMIM:619377 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate... |
ORPHA:109 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Cachexia, Short hard palate, Genu varum |
ORPHA:1969 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Congenital Myopathy 17 |
|
Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe, Tapered finger, Clinod... |
OMIM:618975 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Short stature, Cleft soft palate, Gingival overgrowth, ... |
OMIM:616331 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating C-reac... |
ORPHA:767 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Elevat... |
ORPHA:96179 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Cleft ... |
OMIM:263750 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cleft palate, Fibula... |
OMIM:164745 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Posteriorly placed anus, ... |
OMIM:306955 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:208085 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Apl... |
ORPHA:2839 |
Distal Deletion 15Q |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtru... |
ORPHA:1596 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Short palm, Multicystic kidney dysplasia, Hip contracture, Short statu... |
ORPHA:85201 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, Gastroesophageal reflux, High palate, Clinodactyly of the 5... |
OMIM:300373 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Single transverse palmar ... |
OMIM:247200 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Gastrointestinal dysmotility, 2-3 toe c... |
OMIM:270400 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Short stature, Cleft upper lip, Clinodactyly, Cleft palate, Tooth agenesis, Ectrodactyly, Delayed... |
OMIM:147950 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Gastroesophage... |
OMIM:619721 |
Kinsship Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Widely spaced teeth, Gastroesophage... |
OMIM:619297 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Joubert Syndrome 2 |
|
Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, High pal... |
OMIM:608091 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Cockayne Syndrome |
|
Urinary incontinence, Gastroesophageal reflux, Hepatomegaly, Abnormal dental morphology, Renal hy... |
ORPHA:191 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Short stature, Cachexia, Deep philtrum, Anorectal anomaly, Non-midline cleft lip, ... |
ORPHA:647 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hydronephrosis, Elevated circulating C-reactive protein concentration, We... |
ORPHA:449400 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Cleft lip, Micropenis, Cleft palate |
OMIM:614838 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Clinodact... |
OMIM:618460 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Small for gestational age, Short stature, Ectopic k... |
OMIM:227646 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Single transverse palmar crease, Splenomegaly, Growth delay, Reduced... |
OMIM:618541 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, E... |
ORPHA:2316 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Non-midline cleft lip, Hypoplasia of ... |
ORPHA:245 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Cleft pa... |
ORPHA:2167 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ureteral stenosis, Ulnar deviation of the hand, Single transverse palmar crease, Rock... |
OMIM:272950 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia, Wide mouth, Short foot, Grow... |
OMIM:619758 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Abnormality of the kidney, Postaxial polydact... |
OMIM:209900 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Smooth philtrum, Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep ph... |
ORPHA:404440 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, Short toe, R... |
OMIM:269860 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Preaxial polydactyly, Obesity |
ORPHA:163681 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Short stature, Metaphyseal chondrodysplasia, Renal cyst, Horsesh... |
ORPHA:166035 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated cupid's bow, High, n... |
ORPHA:369837 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Cleft palate, Elevated circulating palmitoleylcarni... |
ORPHA:79284 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Joubert Syndrome 3 |
|
Open mouth, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Primary Myelofibrosis |
|
Splenomegaly, Hepatomegaly, Cachexia, Hepatosplenomegaly |
ORPHA:824 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst... |
ORPHA:79404 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Failure to thrive, Toe syndactyly, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464306 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Erythrokeratodermia Variabilis |
|
Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Weight loss, Brachydactyly |
ORPHA:317 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue f... |
OMIM:614922 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Toe clinodactyly, Bilateral single transverse palmar creases, Sanda... |
ORPHA:261349 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Trisomy 10P |
|
Thumb contracture, Small for gestational age, Abnormality of the kidney, Abnormality of the hand,... |
ORPHA:171929 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Micromelia, Rocker bottom foot, Elbow dislocation, C... |
ORPHA:99776 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Short stature, Postaxial polydactyly, Abnormality of the dentition, Tapered fing... |
OMIM:300968 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S... |
ORPHA:1018 |
Stickler Syndrome |
|
Slender build, Abnormal dental enamel morphology, Cachexia, Cleft upper lip, Open bite, Arachnoda... |
ORPHA:828 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Increased density of long bo... |
OMIM:305620 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Malabsorption |
ORPHA:33355 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d... |
ORPHA:2092 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Weight loss, Inflammation of the large intestine |
ORPHA:26790 |
Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Weight loss |
ORPHA:517 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Parathyroid Carcinoma |
|
Renal insufficiency, Hypercalcemia, Peptic ulcer, Renal hamartoma, Nephrolithiasis, Renal cyst, D... |
ORPHA:143 |
Culler-Jones Syndrome |
|
Short stature, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis |
OMIM:615849 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... |
ORPHA:2710 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palat... |
ORPHA:1752 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Cleft upper lip, Cleft pal... |
OMIM:607371 |
Infantile Krabbe Disease |
|
Failure to thrive, Gastroesophageal reflux, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of... |
ORPHA:857 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hepa... |
OMIM:619488 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Failure to thrive in infancy, Bilateral single tran... |
ORPHA:1308 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly |
ORPHA:3004 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short stature, Obesity, Cleft palate, Short philtrum, Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla... |
ORPHA:97360 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Ob... |
ORPHA:251071 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464311 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Hypophosphatemia, Weight loss, Protein-losing enteropathy, Hypoca... |
ORPHA:398063 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Cystic Echinococcosis |
|
Hepatomegaly, Renal cyst, Weight loss, Ovarian cyst, Membranous nephropathy, Hyperbilirubinemia, ... |
ORPHA:400 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Gastroesophageal reflux, Advanced eruption of t... |
ORPHA:818 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Radial club hand, Cleft... |
ORPHA:2165 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Decreased serum iron, Odyno... |
ORPHA:447 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Severe short stature, Arachnodactyly, Rhizomelia, Overla... |
ORPHA:3379 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Short stature, Rectal fistula, Absent radi... |
OMIM:115470 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Weight loss, Nephro... |
ORPHA:330001 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Elevated 8-dehydrocholesterol, E... |
OMIM:302960 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... |
ORPHA:508533 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Short stature, Cleft lip, 2-3 toe cutaneous syndactyly, Renal hypoplasi... |
OMIM:618454 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Incr... |
ORPHA:85443 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Organic aciduria, Hyperammonemia, Weight loss |
ORPHA:79242 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Large for gestational age, Bowing of the legs, Long hallux, Renal cyst, Macrog... |
OMIM:617107 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Bilate... |
ORPHA:49 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Dental crowding, Short stature, Abnormality of the dentition, Long penis, Gingi... |
ORPHA:769 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodactyly of the 5... |
OMIM:161200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Au-Kline Syndrome |
|
Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, De... |
OMIM:616580 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Axial malrotation of the kidn... |
OMIM:274000 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly, Obesity |
OMIM:616562 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Short stature, Tapered finger, Preaxial hand polydactyly, Short toe, O... |
OMIM:620072 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, ... |
ORPHA:534 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec... |
OMIM:219800 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, ... |
OMIM:261515 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Micromelia, Esophageal ... |
ORPHA:93271 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri... |
ORPHA:3208 |
Cranioectodermal Dysplasia 2 |
|
Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Hepatomegaly, Syndactyly,... |
OMIM:613610 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Hi... |
ORPHA:2879 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Short stature, Long fingers, 2-3 toe syndactyly, High palate, Poly... |
OMIM:300960 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:50251 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic... |
OMIM:617641 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Proteinuria, Steatorrhea, Renal cyst, Ne... |
OMIM:212065 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Prea... |
OMIM:619471 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu... |
OMIM:601707 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing... |
ORPHA:84 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... |
ORPHA:131 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cleft palate, Glossoptosis, Clinodactyly of the 5th ... |
ORPHA:1393 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Short thumb, Cleft palate, Horseshoe kidney, Growth delay, Esophagitis... |
OMIM:612562 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Short digit, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Short stature, Pos... |
ORPHA:397715 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Cachexia, Macrodactyly, Cari... |
ORPHA:744 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral mucosa morphology, Splenomegaly, Weight loss, Hypoalbuminemia, Abnorm... |
ORPHA:507 |
Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... |
ORPHA:2322 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney dysplasia, Finger ... |
ORPHA:2308 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst, Elevat... |
ORPHA:488618 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, High p... |
ORPHA:199 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi... |
ORPHA:668 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Deep philtrum, Renal cyst, Wide mouth, Talipes equinovarus, Renal dysplasia, Smoot... |
OMIM:617260 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Failure to thrive, Proximal renal tubular acidosis, Postaxial po... |
OMIM:615824 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... |
OMIM:600920 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss... |
OMIM:213300 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atresia, Deep p... |
OMIM:610536 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, V... |
OMIM:300000 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... |
OMIM:270420 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Narrow mo... |
ORPHA:3301 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Microsporidiosis |
|
Glossitis, Cachexia, Urethritis, Weight loss, Abnormality of the urinary system physiology, Nephr... |
ORPHA:2552 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Genu valgum, Short philt... |
OMIM:619142 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ... |
ORPHA:1512 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Hajdu-Cheney Syndrome |
|
Downturned corners of mouth, Periodontitis, Partial absence of toe, Hepatomegaly, Hypospadias, Sh... |
ORPHA:955 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Short stature, Cleft lip, Renal cyst, Furrowed tongue, Hip dysplasia, Ga... |
OMIM:616975 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Genu valgum, Downturn... |
OMIM:619321 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
3Mc Syndrome 2 |
|
Hypospadias, Limited elbow movement, Cleft upper lip, Postnatal growth retardation, Hip dislocati... |
OMIM:265050 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Anorec... |
ORPHA:233 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Short... |
ORPHA:798 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Failure to th... |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Sp... |
OMIM:617088 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short palm, Thin upper lip vermilion, Hypospadias, Renal agenesis, Broad hallux, Broad phalanx, A... |
ORPHA:508498 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino... |
ORPHA:373 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Preaxial hand polydactyly, Short stature, Cleft palate |
ORPHA:79113 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:601539 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Intrauterine growth retardation, Narrow mouth |
OMIM:245552 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Intestinal malrotation, 2-3 toe syndactyly, Patent urachus, Micropenis, ... |
OMIM:618280 |
X-Linked Agammaglobulinemia |
|
Short stature, Malabsorption, Weight loss, Glossoptosis, Hypocalcemia, Failure to thrive |
ORPHA:47 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Interphalangeal joint erosions, Elevated circulating C... |
OMIM:180300 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Broad hallux, Short stat... |
OMIM:154400 |
Myhre Syndrome |
|
Abnormal penis morphology, Short palm, Brachydactyly, Severe short stature, Hypospadias, Epispadi... |
ORPHA:2588 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Malabsorption, Hepatocellular carcinoma, Abnormal ci... |
ORPHA:440437 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Peptic ulcer, Renal hamartoma, Nephrolithiasis, Renal cyst, D... |
ORPHA:99880 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Elevated ... |
ORPHA:160 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Hypospadias, Short stature, Small hand, Cleft palate, Short foot, Short... |
OMIM:300712 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Gastroesophageal r... |
OMIM:194190 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... |
ORPHA:261265 |
Marfan Syndrome |
|
Dental crowding, Arachnodactyly, Cachexia, Limited elbow movement, Open bite, High, narrow palate... |
ORPHA:558 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morphology, Weig... |
ORPHA:324964 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Fl... |
OMIM:309350 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Weight loss |
ORPHA:2221 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Small for gestational age, Short stature, Thin vermilion border, High palate, Polydac... |
OMIM:619869 |
Fatal Familial Insomnia |
|
Weight loss, Urinary retention, Dysphagia |
OMIM:600072 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Orofacial cleft, Abnormality of ... |
ORPHA:1556 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Weight l... |
ORPHA:183 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr... |
ORPHA:1896 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Renal insufficiency, Multicystic kidney dysplasia, Splenomegaly, Postaxial hand pol... |
ORPHA:1454 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Short stature, Camptodactyly of finger, Splenomegaly, Gingi... |
ORPHA:354 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Orofac... |
ORPHA:1335 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, We... |
ORPHA:732 |
Adnp Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Urinary incontinence,... |
ORPHA:404448 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Megacystis, Cleft pa... |
ORPHA:2604 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormality of the philtrum, Hypospadias, Abnormality of the kidney, Cle... |
ORPHA:280 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Multiple renal cysts, Talipes equinovarus, Re... |
OMIM:618733 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, High, narrow palate, Hepatic hemangioma, High p... |
OMIM:180849 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Aplasia/Hypoplasia ... |
ORPHA:564 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Weight loss |
ORPHA:168811 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Short humerus, Short femur, Hypospadias, Orofacial cleft, M... |
ORPHA:17 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Cleft palate, Growth delay, In... |
ORPHA:1052 |
Solitary Fibrous Tumor |
|
Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urinary retention, Hypophosphatemic ... |
ORPHA:2126 |
Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retar... |
ORPHA:699 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Hepatosplenomega... |
ORPHA:93400 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno... |
ORPHA:1848 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis... |
OMIM:614083 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Weight loss, Gastrointes... |
ORPHA:679 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Celiac disease, Postnatal growth retardation, Weight loss, Recurrent aphthous stom... |
OMIM:212750 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Enanthema, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome |
ORPHA:139402 |
Immunodeficiency 96 |
|
Growth delay, Multicystic kidney dysplasia |
OMIM:619774 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morp... |
ORPHA:284 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gastroesophageal reflux, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Short s... |
ORPHA:268261 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T... |
ORPHA:1120 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb... |
ORPHA:91139 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1606 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Cachexia, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Growth delay, Gastri... |
ORPHA:2072 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial foot polydactyly... |
ORPHA:1827 |
Acrodermatitis Enteropathica |
|
Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight loss,... |
ORPHA:37 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Aplastic clavicl... |
ORPHA:2554 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Renal dupl... |
ORPHA:709 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... |
ORPHA:399 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Submucous cleft of soft and har... |
OMIM:301022 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Gastroesophageal reflux, High palate, Vesicoureteral reflux, Syndactyly, Hypospa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Gastroesophageal reflux, High palate, Vesicoureteral reflux, Syndactyly, Hypospa... |
ORPHA:353277 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, In... |
ORPHA:465508 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Unconjug... |
OMIM:613673 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Abnormality of body weig... |
ORPHA:2298 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation,... |
ORPHA:537 |
Short Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Weight los... |
ORPHA:3163 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel... |
OMIM:604292 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Postaxial polyda... |
OMIM:617527 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn... |
ORPHA:352665 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Angular cheilitis, Weight loss, Failure to thrive, Glossitis |
ORPHA:35858 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Acute Promyelocytic Leukemia |
|
Gingival overgrowth, Weight loss, Hematuria, Gingival bleeding, Stomatitis |
ORPHA:520 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Large for gestational age, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial... |
ORPHA:672 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widen... |
OMIM:607944 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Epispadias, Prea... |
ORPHA:2211 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Palmar ... |
ORPHA:77301 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Weight loss, Hepatocellular carcinoma |
ORPHA:65682 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Weight los... |
ORPHA:171876 |
Tetrasomy 9P |
|
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t... |
ORPHA:3310 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Cleft palate, Polycystic ovaries, Failure to thrive |
ORPHA:137675 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Weight loss |
ORPHA:312 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Pemphigus Vulgaris |
|
Weight loss, Abnormal oral cavity morphology |
ORPHA:704 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Abnormality of the tongue, Dysphagia |
ORPHA:216866 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:391 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Gapo Syndrome |
|
Hepatomegaly, High, narrow palate, Thick lower lip vermilion, Eruption failure, Growth delay, Lon... |
OMIM:230740 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Glomerulonephritis, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, Cleft palate, Na... |
OMIM:605627 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered... |
ORPHA:480880 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia |
ORPHA:134 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Downturned cor... |
ORPHA:99885 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the hand, Splenomegaly, Increased body weight, Weight loss, Failure ... |
ORPHA:905 |
Oromandibular Dystonia |
|
Abnormal lip morphology, Weight loss, Dysphagia |
ORPHA:93958 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal pro... |
ORPHA:904 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Weight loss |
ORPHA:157941 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication... |
OMIM:236680 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Bladder exstrophy |
OMIM:217100 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma |
OMIM:191100 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Weight loss, Tongue pain, Abnormal palate morphology |
ORPHA:221098 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ... |
ORPHA:361 |
Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Hypospadias, Renal agenesis, Single transverse palmar crease, Cleft... |
OMIM:113620 |
Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Hypoplasia of penis, Dental crowding, Multicystic kidney dyspla... |
ORPHA:2052 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Oral ... |
OMIM:301074 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Giant Cell Arteritis |
|
Renal insufficiency, Weight loss, Hematuria, Gastrointestinal infarctions, Glossitis |
ORPHA:397 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Weight loss |
ORPHA:3287 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hypoplastic philtrum |
OMIM:620047 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:33276 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Short stature, Splenomegaly, Weight loss, Gastrointestinal eosinop... |
OMIM:614162 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal... |
ORPHA:36426 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Congenit... |
OMIM:606170 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatosplenomegaly, Weight loss, Malabsorption |
ORPHA:98850 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Clubbing, Weight loss |
ORPHA:79127 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Split hand, Clubbing, Cleft palate, Growth delay, Micropenis |
OMIM:600460 |
Pyomyositis |
|
Renal insufficiency, Weight loss |
ORPHA:764 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Renal cell ... |
OMIM:613254 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins... |
ORPHA:900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Gastrointestinal dysmotility, Weight loss, Hypoalbuminemia, Acute colitis |
ORPHA:67 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neoplasm of the re... |
ORPHA:144 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Weight loss, Elevated carcino... |
ORPHA:100085 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto... |
OMIM:109400 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Weight loss, Abnormal epiphysis morphology, Abnormal metaphysis mor... |
ORPHA:35687 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H... |
ORPHA:60025 |
Legius Syndrome |
|
Short stature, Nephrolithiasis, Desmoid tumors, Diaphyseal dysplasia, Male urethral meatus stenos... |
ORPHA:137605 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Deep philtrum, Tented upper lip vermilion, High palate |
ORPHA:314655 |
Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Calcaneov... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Short philtru... |
ORPHA:261537 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:3226 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Renal salt wasting, Celiac disease, Decreased urinary potassium, Hyp... |
ORPHA:85138 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Chand Syndrome |
|
Hydroureter, Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... |
ORPHA:1401 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Weight loss, Hyperuricemia, Failure to... |
ORPHA:199299 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Weight loss |
ORPHA:47612 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology, Malabsorptio... |
ORPHA:79430 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Clinodactyly of th... |
ORPHA:457284 |
Klatskin Tumor |
|
Cholangiocarcinoma, Weight loss, Hepatomegaly |
ORPHA:99978 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia |
ORPHA:20 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Renal insufficiency, Hepatomegaly, Hepatocellular carcinoma, Celiac disease, ... |
ORPHA:171 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Functional intestinal obstruction, Hepatosplenomegaly, Weight loss... |
ORPHA:1333 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Mild postnatal growth retardation, Abnormal metata... |
ORPHA:85408 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Clubbing, Weight loss |
ORPHA:747 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Gastroesophageal reflux, Hypoalbuminemia, Hepatomegaly, Syndactyly... |
OMIM:619534 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Renal cy... |
OMIM:601803 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia |
OMIM:615636 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Weight loss, Gingival bleeding |
ORPHA:729 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Tented philtrum, Renal cyst, Anteriorly placed anus, Gastroesophageal reflux, Long p... |
ORPHA:495875 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Spastic/hyperactive bladder, Dysphagia |
ORPHA:411602 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Short philtru... |
ORPHA:261552 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Limited wrist movement, Postnatal growth retardation, Splenomegal... |
ORPHA:576 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Sple... |
OMIM:615846 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Hepatomegaly, Weight loss |
ORPHA:100080 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Faciocardiomelic Syndrome |
|
Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypop... |
OMIM:612731 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Congenital hip dislocation, Dental crowding, Elbo... |
ORPHA:2020 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hepatomegaly, Weight loss, Melena |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hepatomegaly, Weight loss, Melena |
ORPHA:100082 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena... |
OMIM:308205 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy... |
ORPHA:538 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, Ab... |
ORPHA:97280 |
Vipoma |
|
Hepatomegaly, Hypercalcemia, Malabsorption, Weight loss, Hematochezia, Neoplasm of the liver, Hyp... |
ORPHA:97282 |
Poems Syndrome |
|
Metaphyseal sclerosis, Clubbing of fingers, Visceromegaly, Weight loss |
ORPHA:2905 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, Zo... |
ORPHA:97261 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Inflammation of the large intestine, Recurrent aphthous stoma... |
ORPHA:29207 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Malabsorption, Splenomegaly, Or... |
ORPHA:117 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, In... |
ORPHA:97278 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Scapular winging, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Mildly elevated creatine... |
OMIM:607459 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Clubbing, Hypercalciuria, Weight loss, Inflammation of the large inte... |
OMIM:181000 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Small for gestational age, Glomeruloneph... |
ORPHA:1304 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh... |
ORPHA:370348 |
Riddle Syndrome |
|
Weight loss, Short stature, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna |
ORPHA:420741 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, St... |
ORPHA:97283 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Peptic ulcer, Weight loss |
ORPHA:98849 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration... |
OMIM:619381 |
Norrie Disease |
|
Failure to thrive, Thin vermilion border, Cachexia, Delayed puberty |
ORPHA:649 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Elevated circulating creatine kinase concentration, Elev... |
ORPHA:93672 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Weight loss, Hematuria, Hepatosplenomegaly |
ORPHA:781 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hypercalcemia, Hematemesis, Gingival fibromatosis, Nephrolithiasis,... |
ORPHA:652 |
Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Weight loss, Hematuria,... |
ORPHA:99921 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Weight loss, Enlargement of parotid gland, Tubulointerstitial nephritis, Abnormal sal... |
ORPHA:79078 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Hematemesis, Weight loss, Melena, Zollinger-Ellison syndrome |
ORPHA:100075 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine... |
ORPHA:90794 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia |
ORPHA:991 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Colitis, Growth delay, Steatorrhea |
ORPHA:309031 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:164310 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Weight loss |
ORPHA:97287 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... |
OMIM:615287 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Hypercalcemia, Neph... |
ORPHA:797 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Post... |
OMIM:610168 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft upper lip, Partial duplicatio... |
OMIM:164210 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated circulating C-reactive protein ... |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Oral ulcer, Weight loss |
OMIM:608710 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Weight loss |
ORPHA:100086 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Rat-Bite Fever |
|
Parotitis, Weight loss |
ORPHA:31205 |
Pmm2-Cdg |
|
Thin upper lip vermilion, Proteinuria, Long fingers, Reduced thyroxin-binding globulin, Wide mout... |
ORPHA:79318 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology, Median... |
ORPHA:95494 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Neoplasm of the stomac... |
ORPHA:99889 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Delayed puberty, Weight loss |
ORPHA:91347 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Protruding tongue, Splenomegaly... |
ORPHA:2388 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenomegaly, Weight... |
ORPHA:3385 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Weight loss |
ORPHA:221 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Alström Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |