Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous o... |
OMIM:618845 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Exte... |
OMIM:615993 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Short stature, Micromel... |
ORPHA:474 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Polydactyly, Obesity, Nephronophthisis |
OMIM:614845 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Right Atrial Isomerism |
|
Inguinal hernia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal thorax morphology, Abnormal heart morphology, Atypical scarr... |
ORPHA:294975 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly... |
OMIM:615630 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Premature birth, Postaxial polydactyly, Polyhydramnios, Fetal pericardial ef... |
OMIM:219730 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Depressed nasal bridge, Anteverted nares, Large for gestational age, Micrognathia... |
OMIM:618272 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... |
OMIM:614294 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... |
OMIM:615989 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... |
OMIM:306955 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bicornuate uterus, Bilateral renal agenesis, Pulmonary hypoplasia, Vaginal atresia, ... |
OMIM:191830 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Hypoplastic thumbnail, Polyhydramnios, Renal cyst, Finger clinod... |
ORPHA:1692 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Congenital hepatic fibrosis, Chronic kidney d... |
ORPHA:3156 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Intractable diarrhe... |
OMIM:222470 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... |
OMIM:615996 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
Arima Syndrome |
|
Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophagea... |
OMIM:243910 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmat... |
OMIM:619699 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxia... |
OMIM:211750 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... |
OMIM:174050 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... |
ORPHA:369 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Abnormality of the ureter, Low posterior hairline, Deviation of finger, Hydroneph... |
ORPHA:1450 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agen... |
OMIM:264480 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Mosaic Trisomy 16 |
|
Single transverse palmar crease, Maternal diabetes, Nasogastric tube feeding in infancy, Anterior... |
ORPHA:1708 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... |
ORPHA:1937 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... |
ORPHA:662 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Epiphyseal stippling, Decreased liver ... |
OMIM:614870 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen... |
OMIM:184260 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Bilat... |
OMIM:616258 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, I... |
OMIM:247990 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoacidu... |
OMIM:606528 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Feeding difficulties in infancy, Camptodactyly of finger |
DECIPHER:70 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Large for gestational age, Large placent... |
ORPHA:254534 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Feeding diffi... |
OMIM:614866 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... |
OMIM:620294 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... |
OMIM:611555 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Perimembranous ventricular... |
OMIM:617877 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Long thorax, Atrioven... |
OMIM:619142 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections,... |
ORPHA:47612 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiff... |
ORPHA:1166 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Obesity, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Osteopenia, Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger |
OMIM:619717 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... |
ORPHA:79128 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Polyhydramnios, Postnatal growth reta... |
ORPHA:254528 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia, Renal hypoplasia/aplasia |
OMIM:267400 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Coach Syndrome 1 |
|
Encephalocele, Hepatomegaly, Occipital encephalocele, Elevated hepatic transaminase, Unilateral r... |
OMIM:216360 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Short stature, Single transverse palmar crease, Polyhydra... |
OMIM:618541 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Tetralogy of Fallot, Clino... |
OMIM:179613 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i... |
ORPHA:2111 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... |
OMIM:617914 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Abnormality of the spleen, Anorectal anomaly, Renal cyst, Abnormality of the liver,... |
ORPHA:1834 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal rib morphology, Abnor... |
ORPHA:1354 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney, Obesity |
OMIM:615988 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Abdominal distention, Cleft palate, Anhydramnios, Polydac... |
OMIM:613885 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointer... |
OMIM:616629 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, U... |
OMIM:214100 |
Acrocephalopolydactyly |
|
Genu recurvatum, Abnormal renal morphology, Hepatosplenomegaly, Short long bone, Protuberant abdo... |
ORPHA:221054 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving b... |
ORPHA:371428 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in... |
OMIM:609814 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Feeding difficulties, Abnormal renal cor... |
OMIM:616733 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cilia, Rhinitis, Resp... |
OMIM:614935 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Mpdu1-Cdg |
|
Abnormal circulating enzyme concentration or activity, Prominent frontal sinuses, Feeding difficu... |
ORPHA:79323 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
Short Stature Due To Ghsr Deficiency |
|
Short stature, Abnormality of body weight, Hypoglycemia, Abdominal pain, Growth delay, Vomiting, ... |
ORPHA:314811 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Hypoplastic tricuspi... |
OMIM:600001 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial infections, Abn... |
OMIM:193670 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Increased sus... |
ORPHA:79094 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal c... |
OMIM:614815 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... |
OMIM:619534 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Septate... |
ORPHA:2237 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A... |
OMIM:300310 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Hydrops fetalis... |
OMIM:215140 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... |
OMIM:617092 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... |
OMIM:613390 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Small for gestational age, Hypoglycemia, Micrognathia, Feeding difficult... |
ORPHA:397590 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Abnormality of the ureter, Obesity, Genu valgum, Joint hyperflexibili... |
ORPHA:1035 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ... |
OMIM:201000 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Missing ribs, Double outlet right ventricle, ... |
OMIM:220210 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, High palate, Sparse hair, Syndactyly, ... |
OMIM:614091 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal lung lobation, Horseshoe kidney, ... |
ORPHA:3097 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Patent ductus arteriosus, Anemia, Perimembranous ventricular septal defect, Cam... |
OMIM:608104 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rhinitis, Respirator... |
OMIM:614874 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Obesity, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Abnormal lung lobation, Aplasia/Hypop... |
ORPHA:3301 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe synda... |
OMIM:175700 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atria... |
OMIM:618205 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropa... |
ORPHA:3033 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl... |
ORPHA:85285 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Prominent superficial veins, Atypical scarring of skin, Umbilical hernia, Nephro... |
OMIM:617174 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Congenital hepatic fibrosis, Abnormal localization of kidney, Prolong... |
ORPHA:446 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Complete atrioventricular canal defect, Wide anteri... |
OMIM:617925 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... |
OMIM:608971 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Inguinal hernia, Long toe, Down-sloping shoulders, Craniosynostosis, Micr... |
OMIM:611174 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Large for ... |
OMIM:239850 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Long toe, Ventricular septal defect, Hypospadias, Parachute mitral valve, Overlappin... |
OMIM:618316 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, Short stature, Sag... |
OMIM:614099 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obes... |
OMIM:614962 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Joint... |
ORPHA:2412 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus arteriosus, Atrial septal... |
OMIM:618330 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... |
ORPHA:183675 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Micrognathia, Postnatal growth retardation, Splenomegaly, Postaxial... |
ORPHA:1655 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Clinodactyly of ... |
ORPHA:228190 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Polyhydramnios, Thyroid lymphangiectasia, Micrognathia,... |
OMIM:235255 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Hip dysplasia, Clinodac... |
ORPHA:3375 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Donohue Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Abdominal distention, Long penis, Hyperinsul... |
OMIM:246200 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Proximal ... |
ORPHA:1120 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney... |
ORPHA:195 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal pla... |
ORPHA:1488 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, ... |
OMIM:249000 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Severe varicella zoster infection, Recurrent upper respi... |
OMIM:301082 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, S... |
OMIM:618000 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Malabsorption, Abdominal pain, Abdominal d... |
ORPHA:103909 |
Pentasomy X |
|
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Short foot, Radioulnar synostosis,... |
ORPHA:11 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Small for gestational age, Micrognathia, Abnormality of ... |
OMIM:180860 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Short thum... |
OMIM:612561 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F... |
OMIM:615542 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... |
OMIM:236500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater... |
ORPHA:2260 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Renal cortical cysts, Feeding difficulties |
OMIM:609180 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Patent ductus arteriosus, Persistence of he... |
OMIM:619769 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Renal agenesis, Hypospadias, Craniosynostosis, Patent d... |
ORPHA:171839 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Joint st... |
ORPHA:1388 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Tapered finger, Obesity, Micropenis, Sparse body hair |
ORPHA:85274 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepatic fibrosis, ... |
OMIM:266920 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death... |
OMIM:608978 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Hypermelanotic macule, Prem... |
ORPHA:1830 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Short stature, Delayed closure of the anterior fontanelle, Hypoglycemi... |
ORPHA:231140 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava draining directly to the ... |
OMIM:613759 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Ventricular septal defect, Toe clinodactyly |
ORPHA:261120 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Long toe, Inguinal hernia, Ventricular septal defect, Hypospadias, Sandal gap, Taper... |
OMIM:158170 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural effusion... |
OMIM:603278 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Bilateral renal hypoplasia, L... |
OMIM:619488 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Short stature, Hypoglycemia, Onychauxis, Insuli... |
OMIM:262190 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Renal cyst, Steatorrhea, Proximal tub... |
OMIM:602579 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Fe... |
ORPHA:116 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... |
ORPHA:185 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Re... |
OMIM:617661 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short stature, Short middle phalanx of the 2nd finger, High, narrow pala... |
OMIM:617926 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Slender fing... |
ORPHA:329224 |
Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... |
ORPHA:99976 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Abnormality of the kidney... |
ORPHA:79333 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis |
ORPHA:251076 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Renal agenesis, Small for gestational age, Short stature, Hip d... |
OMIM:615583 |
2P21 Microdeletion Syndrome |
|
Decreased fetal movement, Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Long eyelashes... |
ORPHA:163693 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Bilateral renal hypoplasia, Finge... |
ORPHA:508488 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, M... |
OMIM:619189 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteri... |
ORPHA:500159 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Generalized joint laxity, Thoracic kyphosis, Hypermobi... |
ORPHA:508498 |
Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Single transverse palmar crease, Abnormal medullary pyramid morphology... |
ORPHA:79243 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Micrognathia, Proximal renal tu... |
OMIM:181180 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... |
OMIM:620045 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormal thorax morphology, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary ve... |
ORPHA:2184 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... |
OMIM:613860 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive, ... |
ORPHA:79303 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Short stat... |
ORPHA:73272 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic ren... |
OMIM:615415 |
Transient Neonatal Diabetes Mellitus |
|
Umbilical hernia, Abnormality of the urinary system, Abnormality of the kidney, Abnormal heart mo... |
ORPHA:99886 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Depressed nasal bridge, Micrognathia, Nephroblastomatosis... |
OMIM:608022 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Micrognathia, Hep... |
OMIM:208085 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Mungan Syndrome |
|
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Narrow chest |
OMIM:615731 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th... |
OMIM:612562 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abn... |
ORPHA:477817 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs... |
OMIM:618265 |
Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Coxa valga, Large for gestational age, Large placenta, Postnatal... |
ORPHA:254519 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, 2-4 finger syndactyly, Joint laxity, Ventricular septal defect, Hypospadias, ... |
OMIM:617063 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, Asthma, Abnormality of the... |
OMIM:209900 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th ... |
ORPHA:352490 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Knee flexion contracture, Pectus carinatum, Atrial septal defe... |
OMIM:121050 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Hepatoblastoma, Neonatal hypoglycemia, Pancreatic hyperpla... |
OMIM:130650 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Micrognathia, Low anterior hairline, Gastroesophageal reflux, Hepatomegaly, Short stature, Elevat... |
OMIM:608779 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Large for gestational age... |
ORPHA:96334 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Sagittal cranio... |
ORPHA:2872 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Pectus excavatum, Complet... |
OMIM:151100 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Micrognathia, Severe varicella zoster infection, Uveitis, Otitis me... |
ORPHA:125 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Feeding difficulties in infancy, Leukopenia, Vesicoureteral reflux, Micropenis, H... |
OMIM:301056 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Micrognathia, Sandal gap, Hypoglycemia |
ORPHA:2022 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased... |
OMIM:613630 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Fanconi-Bickel Syndrome |
|
Poor appetite, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Keto... |
OMIM:227810 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... |
ORPHA:103907 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Long penis... |
ORPHA:1988 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Abnormality of the urinary s... |
ORPHA:2552 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Wide anteri... |
ORPHA:2143 |
Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Patent ductus arteriosus, Shoulder dislocation, Hernia, Joint hy... |
ORPHA:98892 |
Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Short stature, Premature birth, Feeding diffic... |
ORPHA:254516 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose |
ORPHA:3270 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:618804 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thrive, Thrombocy... |
ORPHA:67048 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Birth len... |
ORPHA:314588 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... |
OMIM:606824 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Premature rupture of membranes, High... |
OMIM:311900 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys... |
ORPHA:1952 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... |
ORPHA:449280 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flexion contracture, Interph... |
OMIM:613870 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Splenomegaly, Recur... |
OMIM:269840 |
Patent Ductus Arteriosus 2 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus |
OMIM:617035 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro... |
ORPHA:2538 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Sialidosis Type 2 |
|
Inguinal hernia, Splenomegaly, Flexion contracture, Osteoporosis, Short thorax, Pectus carinatum,... |
ORPHA:87876 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Abnormal thumb morphology, Patent ductus arteriosus, Abnormal femur morpho... |
ORPHA:1842 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Pulmonary artery atresia, Neonatal death, Atrial septal defect, ... |
OMIM:601186 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Persistent open anterior fontanelle, Severe short stature, Hypoglycemia, Growth delay, Prolonged ... |
OMIM:262400 |
Diaphanospondylodysostosis |
|
Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts |
ORPHA:66637 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteri... |
OMIM:617751 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... |
OMIM:240900 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Hypoglycemia, Elevated circulating aspar... |
OMIM:617093 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Hypoglycemia, Micrognathia,... |
ORPHA:633 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Feeding difficulties in infancy, Hypoplastic toenails, Knee flexion contrac... |
OMIM:608836 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Postnata... |
OMIM:232700 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Vomiting, Stomach cancer, ... |
ORPHA:2869 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malform... |
OMIM:614175 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal ... |
ORPHA:476126 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Short stature, Obesity, Growth delay, Fast... |
ORPHA:171706 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Splenomegal... |
OMIM:252900 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu... |
ORPHA:2847 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Pate... |
OMIM:619657 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... |
OMIM:279000 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Mitral valve prolapse, Abn... |
ORPHA:137834 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... |
ORPHA:911 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal renal morphology, Upper airway obstruction, Hypoplastic labia majora, Malar flattening, ... |
OMIM:207410 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, S... |
OMIM:256500 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hypoglycemia, Polyhydramnios, Hip dislocation, Retrognathia, Feeding difficulties,... |
OMIM:618005 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Micrognathia, Radial club hand, Cleft palate, Hydronephrosis, Intrauter... |
ORPHA:3305 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp... |
OMIM:602531 |
Joubert Syndrome 37 |
|
Hepatomegaly, Prominent metopic ridge, Short stature, Postaxial polydactyly, Obesity, High palate... |
OMIM:619185 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fin... |
ORPHA:3304 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... |
OMIM:615994 |
Joubert Syndrome 3 |
|
Central apnea, Anteverted nares, Episodic tachypnea, Stage 5 chronic kidney disease, Wide nasal b... |
OMIM:608629 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Lobulated tongue, Hyd... |
OMIM:617127 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Decreased fetal movement, Absence of renal corticomedullary differentiation, Renal hypoplasia, Re... |
OMIM:619758 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Pate... |
ORPHA:65759 |
Intellectual Disability, Buenos-Aires Type |
|
Pectus carinatum, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Abnormal ... |
ORPHA:3079 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Perimembr... |
OMIM:618651 |
Achondrogenesis, Type Ib |
|
Micromelia, Polyhydramnios, Hypoplastic ilia, Abdominal distention, Breech presentation, Hydrops ... |
OMIM:600972 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Drum... |
ORPHA:541423 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Renal cortical cysts, Elevated cir... |
OMIM:618548 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Sagittal craniosynostosis, Vesicoureteral reflux, Overgrowth, Atrial s... |
OMIM:615879 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Intrauterine growth retardation, Hydronephrosis |
ORPHA:85173 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Alopecia, Proteinuria... |
ORPHA:93552 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Obesity, Cleft palate, Birth length less than 3rd percen... |
OMIM:300148 |
Short-Rib Thoracic Dysplasia 12 |
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Polyhydramnios, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, H... |
OMIM:269860 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Wolman Disease |
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Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... |
ORPHA:75233 |
Autosomal Recessive Spondylocostal Dysostosis |
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Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of... |
ORPHA:2311 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Inguinal hernia, Horizontal ribs, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation o... |
OMIM:614857 |
Ring Chromosome Y Syndrome |
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Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
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Small for gestational age, Hypoglycemia, Premature birth, Feeding difficulties in infancy, Cleft ... |
ORPHA:231147 |
Immunodeficiency 110 With Lymphoproliferation |
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Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... |
OMIM:614868 |
Fraser Syndrome 2 |
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Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a... |
OMIM:617666 |
Ciliary Dyskinesia, Primary, 1 |
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Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil... |
OMIM:244400 |
Meckel Syndrome, Type 11 |
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Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
X-Linked Dominant Chondrodysplasia Punctata |
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Sparse eyelashes, Short stature, Abnormal hair pattern, Abnormality of prenatal development or bi... |
ORPHA:35173 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neut... |
OMIM:617056 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urethral stricture, Nausea and vomiting, Polyhydramnios, Urinary bladder inflammation, Abdominal ... |
ORPHA:79403 |
Meckel Syndrome, Type 9 |
|
Sonographic non-visualized fetal bladder, Occipital encephalocele, Multicystic kidney dysplasia, ... |
OMIM:614209 |
Suleiman-El-Hattab Syndrome |
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Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... |
OMIM:618950 |
Familial Visceral Myopathy |
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Hydroureter, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon, Micrognathia, Abdomi... |
ORPHA:2604 |
Congenital Disorder Of Glycosylation, Type Iil |
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Inflammation of the large intestine, Elevated gamma-glutamyltransferase level, Hepatomegaly, Chro... |
OMIM:614576 |
Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short... |
OMIM:602152 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Cutaneous fi... |
OMIM:235510 |
Focal Dermal Hypoplasia |
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Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Multicystic kidney dysplasia, Abnorma... |
ORPHA:2092 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, E... |
ORPHA:401935 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
Congenital Myopathy 19 |
|
Decreased fetal movement, Micrognathia, Renal atrophy, High palate, Dysphagia, Hydronephrosis |
OMIM:618578 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Visceral Myopathy 1 |
|
Gastroparesis, Intestinal pseudo-obstruction, Aganglionic megacolon, Abdominal pain, Polyhydramni... |
OMIM:155310 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Delayed epiphys... |
ORPHA:226313 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail... |
OMIM:607539 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Bone spicule pigmentation of the retina, Postaxial polydactyly, ... |
OMIM:615986 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Dextrocardia, Camptodactyly of finger, Renal hypoplasia/aplasia, Patent ductus arteriosus, Midsha... |
ORPHA:2863 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... |
OMIM:616868 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Vacterl/Vater Association |
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Occipital encephalocele, Hypoplasia of penis, Polyhydramnios, Ectopic kidney, Abnormality of the ... |
ORPHA:887 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Hypoglycemia, Hepatocell... |
OMIM:232200 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Small hand, Cleft palate, Anteriorly placed anus, Growt... |
OMIM:619980 |
Alagille Syndrome 2 |
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Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Zellweger Syndrome |
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Thickened nuchal skin fold, Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hyposp... |
ORPHA:912 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Postaxial polydactyly, Polyhydramnios, Obesity, Nephrocalcinosis, Short long bone, Horizontal rib... |
OMIM:615633 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Death in infancy, Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomal... |
OMIM:617478 |
Tetraamelia Syndrome 1 |
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Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Micrognathia, Periph... |
OMIM:273395 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Small for gestational age, Short stature, Hypoglycemia, Feeding difficu... |
ORPHA:231137 |
Joubert Syndrome 20 |
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4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Increased body weight, Hepatic fibrosis, Vomiting, Fasting hypoglycemia, Hepatic steatosis, Nause... |
ORPHA:264580 |
Tatton-Brown-Rahman Syndrome |
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Short toe, Patent ductus arteriosus, Obesity, Widely spaced toes, Aortic root aneurysm, Proportio... |
ORPHA:404443 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... |
OMIM:618974 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Acne, Cryptorchidism, Esophageal atresia, Pylor... |
OMIM:101200 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Severe cytom... |
ORPHA:397596 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... |
OMIM:619218 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Prominent metopic ridge, Tapered finger, Micr... |
ORPHA:261290 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micr... |
ORPHA:2437 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... |
ORPHA:1770 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Wide nose, Proteinuria, Rec... |
OMIM:617303 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Anteverted nares, Apnea, Renal cyst, Multiple renal cysts, Failure to thrive |
OMIM:614883 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Unilateral renal agenesis, Micrognathia, Feeding diffic... |
OMIM:609757 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal renal morpho... |
ORPHA:2209 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Elevated g... |
OMIM:278000 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Aapoaiv Amyloidosis |
|
Proteinuria, Cardiac amyloidosis, Abnormal renal medulla morphology, Renal interstitial amyloid d... |
ORPHA:439232 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... |
OMIM:142900 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Absent radius, Patent ductus arteriosus, Vesicouretera... |
OMIM:115470 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Thickened nuchal skin fold, Hypoplasia of penis, Bilateral single transverse palmar creases, Camp... |
ORPHA:2083 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... |
OMIM:122470 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Intestinal obstruction, Intesti... |
ORPHA:873 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Camptodactyly, Umbilical hernia, Add... |
OMIM:618011 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Facial hypertrichosis, Broad hallux, Abnormality of the kidney, Micrognathia, Feeding difficultie... |
OMIM:610543 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
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Clinodactyly of the 5th finger, Umbilical hernia, Patent ductus arteriosus, Craniosynostosis |
ORPHA:1516 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Polyhydramnios, Hydrops fetalis, Finger ... |
ORPHA:99776 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Short stature, Craniosynostosis, Micro... |
OMIM:250410 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Increased fecal coproporphyrin 3, Nausea, ... |
ORPHA:100924 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Tapered finger, Coxa valga, Clinodactyly,... |
OMIM:301040 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis recti, Coxa va... |
OMIM:608149 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... |
ORPHA:2473 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges, Death in child... |
OMIM:612938 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Sandal gap, Renal hypoplasia, 2-3 toe syndactyly, Joint contracture of the 4th f... |
OMIM:618914 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Congenital diaphragmatic hernia, Proximal placement of thumb, ... |
ORPHA:251071 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, ... |
OMIM:240500 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... |
ORPHA:251004 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Fee... |
OMIM:619762 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... |
ORPHA:79237 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Malar flattening, Short ... |
OMIM:614613 |
Zaki Syndrome |
|
Sparse scalp hair, Toe syndactyly, Renal agenesis, Short stature, Poor appetite, Micrognathia, Hy... |
OMIM:619648 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P... |
ORPHA:93267 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Shor... |
ORPHA:85201 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he... |
ORPHA:2839 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Micromelia, Micrognathi... |
ORPHA:93299 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hep... |
OMIM:232220 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Feeding difficulties, Ethylmalonic aciduria, Increased level of methylsucci... |
ORPHA:26792 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Patent ductus arteriosus, Short thora... |
ORPHA:1597 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Short stature, Abnormal ha... |
ORPHA:2315 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus a... |
ORPHA:2655 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis, Small nail |
OMIM:235760 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Silver-Russell Syndrome |
|
Micrognathia, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Gastroesophageal... |
ORPHA:813 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Pate... |
ORPHA:1972 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hip dislocation, Hip dysplasia, Arthrogryposis multiplex congenita, Tetralogy of Fallot |
ORPHA:250994 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k... |
OMIM:614527 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Camptodacty... |
ORPHA:261344 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... |
OMIM:607361 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema... |
ORPHA:443811 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Premature birth, Feeding difficulties in infancy, Failure to thrive, Anemia |
OMIM:610090 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis |
OMIM:247800 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Craniosynostosis, Micro... |
ORPHA:166035 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recurrent... |
OMIM:618188 |
Thyroid Hemiagenesis |
|
Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilical hernia |
ORPHA:95719 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Generalized joint lax... |
ORPHA:1900 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac... |
OMIM:300209 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Organic aciduria, Constipation, Propionyl-CoA carboxylase deficiency |
ORPHA:35 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, S... |
OMIM:616026 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Flexion contracture, Abse... |
OMIM:618658 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... |
OMIM:209920 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventricular septal defect, Overgrowth, Polydactyly, Leukemia, Hernia, N... |
OMIM:602501 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Polydactyly, Obesity |
OMIM:615990 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, Glossoptosis, Hig... |
OMIM:611209 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Abnormal... |
OMIM:617397 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Small for gestational age, De... |
OMIM:616897 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Respiratory insufficiency, Retrognathia, Bl... |
ORPHA:456328 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus, Wrist flexion contracture |
OMIM:619519 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Pectus excavatum, Osteoarthritis, Cigar... |
OMIM:130000 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis |
ORPHA:93476 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent ductus arterios... |
ORPHA:90308 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Ventricular septal defect, Joint stiffness, Splenomegaly, Red... |
OMIM:620210 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... |
OMIM:601927 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Ventricular septal defect, Rocker bottom foot, Pectus excavatum, Patent ... |
OMIM:612582 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Single transverse palmar crease... |
OMIM:214110 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abdominal distention,... |
ORPHA:85166 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Vomit... |
ORPHA:289504 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial i... |
OMIM:607594 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Epiphyseal stippling, Polycystic kidney dysplasia,... |
OMIM:614859 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Short stature, Micrognathia, Renal hypoplasia,... |
OMIM:616817 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia |
OMIM:262700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enteropathy, Recurrent otitis... |
OMIM:613502 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Patent ductus arteriosus, Short thorax, Limitation of j... |
ORPHA:93274 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Short stature, Premature birth, Chroni... |
ORPHA:97362 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, True hermaphroditism, Nephroblastoma,... |
OMIM:194080 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Neurogenic bladder, Bicuspid aortic valve, Ventricular septal ... |
OMIM:130720 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening... |
OMIM:146510 |
Distal Duplication 6P |
|
Abnormal hair quantity, Short stature, Micrognathia, Abnormal eyelash morphology, Renal hypoplasi... |
ORPHA:1745 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Toe syndactyly, Hypoglycemia, Cone-shape... |
OMIM:618958 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Intestinal malrotati... |
ORPHA:7 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c... |
OMIM:308050 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity |
OMIM:103200 |
Castleman Disease |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized ... |
ORPHA:160 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Increased body weight, Increased proinsulin:insulin rati... |
ORPHA:94086 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis,... |
OMIM:267010 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis, Mucopolysacchariduria |
ORPHA:93474 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyl... |
OMIM:614846 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... |
ORPHA:95427 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol... |
ORPHA:91387 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... |
OMIM:613091 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hyd... |
ORPHA:2241 |
Short Stature Due To Partial Ghr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Tetralogy of Fallot... |
ORPHA:1919 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Tetra... |
OMIM:618624 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Incre... |
ORPHA:890 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Hereditary Xanthinuria |
|
Crystalluria, Arthropathy, Recurrent urinary tract infections, Reduced xanthine dehydrogenase lev... |
ORPHA:3467 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Congenital diaphragmat... |
ORPHA:380 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal defect... |
OMIM:614886 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Mitral valve ... |
OMIM:104350 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing... |
OMIM:614608 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ... |
ORPHA:1926 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Trichodiscoma, Renal cyst, Renal cell carcinoma, Sebaceous hyperplasia, Colon can... |
OMIM:135150 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5... |
OMIM:619468 |
Trisomy 13 |
|
Abnormal eyelash morphology, High, narrow palate, Postaxial hand polydactyly, Abnormality of the ... |
ORPHA:3378 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Vesicou... |
OMIM:617159 |
Carboxypeptidase N Deficiency |
|
Allergic rhinitis |
OMIM:212070 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia, Death in infancy |
OMIM:254120 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Abnormal sternum ... |
OMIM:615355 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joi... |
ORPHA:2772 |
Achondrogenesis |
|
Inguinal hernia, Abnormal enchondral ossification, Short thorax, Narrow chest, Abnormality of bon... |
ORPHA:932 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d... |
OMIM:617516 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Low posterior hairline, Short foot, Short 5th finger, High palate, Cubitus v... |
OMIM:300577 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Small for gestational age, Postaxial polydactyly, Taper... |
OMIM:613792 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... |
OMIM:618161 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Abnorm... |
ORPHA:83473 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Polyhydramnios, Tapered finger, Feedi... |
OMIM:618829 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Synophrys, Hirsutism, 2-3 toe syndactyly, Generalized hirsutism, Low ... |
OMIM:269921 |
Imagawa-Matsumoto Syndrome |
|
Birth length greater than 97th percentile, Overgrowth, Camptodactyly, Umbilical hernia, Clinodact... |
OMIM:618786 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Small for gestational age, Proximal placement of thumb... |
OMIM:613330 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cyst... |
ORPHA:1318 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib mor... |
ORPHA:2519 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for... |
ORPHA:363705 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Carious teeth, Splenomegaly, Asthma, Failure to thrive |
OMIM:612714 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular ... |
OMIM:236680 |
Leishmaniasis |
|
Splenomegaly, Hepatomegaly, Rhinitis, Weight loss |
ORPHA:507 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Scapular winging, Ventricular septal defect, Monkey wrench femoral neck, Pectus exc... |
OMIM:618870 |
Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Unilateral renal agenesis, Highly arched eyebrow, Feeding difficu... |
OMIM:617190 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Elevated hepatic transaminase, E... |
ORPHA:400 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anemia, Atrial septal defect, ... |
ORPHA:290 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Increased body weight, Recurrent hypoglycemia, Hepatic fibrosis, Vomiting, ... |
ORPHA:79240 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Arthrogryposis multip... |
OMIM:616867 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Malar flattening, Short nose, R... |
OMIM:613670 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Premature birth, Thrombocytopenia, Leukocytosis, Splenom... |
ORPHA:90051 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Depressed nasal bridge, Wide nasal bridge, Aspiration pneumonia |
OMIM:609528 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Coarse hair, Lateral displacement of the femoral head, Neutropenia, H... |
OMIM:242900 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Ulnar deviation of the hand, Polyhydramnios, Micrognathia, Frontotemp... |
OMIM:263210 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Polyhydramnios, Abnormality of the urethra, Abdominal distention, Scarring alope... |
ORPHA:158684 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal stenosis, Cry... |
ORPHA:2052 |
Leprechaunism |
|
Hepatomegaly, Postnatal growth retardation, Abdominal distention, Rectal prolapse, Long penis, In... |
ORPHA:508 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Hydrops fetalis, Coarse hair, Narrow greater sciatic notch, Reduced leukocyte bet... |
OMIM:253220 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Joint stiffness, Abnormal ao... |
ORPHA:2516 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ... |
OMIM:208500 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Feeding difficul... |
OMIM:614922 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Premat... |
OMIM:275210 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Intestinal mal... |
OMIM:617866 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Pectus excavatum, Pa... |
OMIM:605275 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Short stature, Hypoglycemia,... |
OMIM:617053 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Fetal akinesia sequence, Gastroesophageal reflux, Micropenis, Short statur... |
OMIM:615547 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Obesity, Renal hypoplasia, Pigmentary retinopathy, Brachydactyly |
OMIM:600151 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Median cleft palate, Respiratory insufficiency, Large for gesta... |
ORPHA:2432 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... |
ORPHA:449395 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... |
ORPHA:2484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Abdominal pain, Re... |
ORPHA:469 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Hypopl... |
ORPHA:235 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Synophrys, Low anteri... |
OMIM:300882 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Vesico... |
OMIM:274000 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Short s... |
OMIM:617927 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Restrictive Dermopathy |
|
Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,... |
ORPHA:1662 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Onychomycosis, Recurrent otitis me... |
OMIM:614468 |
Kabuki Syndrome 2 |
|
Natal tooth, Short stature, Highly arched eyebrow, Neonatal hypoglycemia, Feeding difficulties in... |
OMIM:300867 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Stage 5 chronic... |
OMIM:208540 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, L... |
OMIM:222300 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abdominal aortic aneurysm, Joint laxity, A... |
ORPHA:284984 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Supravalva... |
OMIM:618164 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, High palate, Bilateral single transverse palmar creases, Multicystic kidney dyspl... |
ORPHA:261349 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda... |
OMIM:260660 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosis, Lambdoidal craniosynostosi... |
OMIM:314320 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ... |
OMIM:613680 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, Hy... |
ORPHA:263455 |
H Syndrome |
|
Psoriasiform dermatitis, Abnormality of the kidney, Recurrent pharyngitis, Bronchiectasis, Hepato... |
ORPHA:168569 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Unilateral renal agenesis, High, narrow palate, Increased nuchal translucency, R... |
OMIM:618494 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Failure to thrive, Elevated hepa... |
ORPHA:2394 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm,... |
OMIM:616652 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Joint laxity, Inguinal hernia, Carotid artery dissection, Arachnodactyly... |
OMIM:208050 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia... |
OMIM:113000 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Biliary atres... |
ORPHA:96149 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Micrognathia, Metaphyseal widening, Sparse hair, Hypopigmentation of the skin, Hepa... |
OMIM:252500 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A... |
OMIM:276700 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus arteriosus, Pulmonary v... |
ORPHA:210122 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicoureteral reflux, Ne... |
ORPHA:391641 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Mmep Syndrome |
|
Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, D... |
ORPHA:2326 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Large for gestational age, Tapered fi... |
ORPHA:261652 |
Hypotonia-Cystinuria Syndrome |
|
Decreased fetal movement, Feeding difficulties in infancy, Postnatal growth retardation, Nephroli... |
OMIM:606407 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Neutropenia, Feeding difficulties, Dysphagi... |
OMIM:618253 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Maculopapular exanthema, Skin rash, Crackles, Atelecta... |
ORPHA:319213 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
Shigellosis |
|
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Vomiting, Nausea, Acute colit... |
ORPHA:810 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransfer... |
ORPHA:53035 |
Eosinophilopenia |
|
Allergic rhinitis |
OMIM:131430 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Hypoglycemia, Mesangial hypercellularity, ... |
OMIM:617575 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Hypoglycemia, Hypoplastic toenails, Histidinuria, Sh... |
ORPHA:2158 |
Achondrogenesis Type 1B |
|
Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short fo... |
ORPHA:93298 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger |
ORPHA:2515 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Proportionate short stature... |
ORPHA:391408 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome... |
ORPHA:36412 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Abnormal hair whorl, Synophrys, 2-3 toe syndactyly, Horseshoe kidney, Increased bod... |
OMIM:300860 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Short stature, Abdominal pain, Celiac... |
OMIM:212750 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Obesity, Pigmentary retinopathy, Polydactyly, Micropenis |
OMIM:245800 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Polyhydramnios, Sparse eyebrow, Postnatal gr... |
OMIM:302960 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Mo... |
OMIM:613309 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Short stature, Postaxial polydactyly, Highly arched eyeb... |
OMIM:618460 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating as... |
OMIM:614921 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Inguinal hernia, Brachydactyly, Hypersplenism, Splenomegaly, Pulmonic stenosis, Right... |
OMIM:616028 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Ectopic kidney, Sparse eyebrow, Abnormal hair... |
ORPHA:634 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia,... |
OMIM:211890 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Poor appeti... |
OMIM:606054 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... |
OMIM:146255 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Non-acidoti... |
OMIM:222448 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum,... |
OMIM:219100 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalci... |
ORPHA:445038 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Inguinal hernia, Broad toe, Progressive flexion contractures, Hypospadias, Cra... |
ORPHA:93932 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Poor appetite, Micrognathia, Feeding difficulties in infancy, High, narrow palate, Vomiting, Gast... |
ORPHA:96182 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Clinodactyly... |
ORPHA:2750 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Large for g... |
OMIM:617107 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Micrognathia, Abnormal finger morphology, High palate, Vesicoureteral refl... |
DECIPHER:81 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Hyperpigmentation of the skin |
OMIM:609197 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Branchial anomaly, Hypospadias |
ORPHA:1296 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, A... |
ORPHA:1190 |
Trisomy 5P |
|
Hypoplasia of penis, Short stature, Renal hypoplasia/aplasia, Obesity, Abnormal metacarpal morpho... |
ORPHA:1742 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Gastrointestinal dysm... |
ORPHA:531151 |
Prune Belly Syndrome |
|
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Aplasia of t... |
OMIM:100100 |
Chromosome 18Q Deletion Syndrome |
|
Joint laxity, Inguinal hernia, Toe syndactyly, Absence of the pulmonary valve, Ventricular septal... |
OMIM:601808 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Joint hyperflexibility, Disproportionate tall stature, Shoulder dislocation, Umbi... |
ORPHA:2181 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Joint hyperflexibility, Umbi... |
ORPHA:96129 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Hypopigmented ski... |
ORPHA:2115 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trun... |
ORPHA:536532 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocated radial head... |
OMIM:182212 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnor... |
ORPHA:2345 |
Noonan Syndrome 4 |
|
Ureteral duplication, Curly hair, Short stature, Polyhydramnios, Large for gestational age, Spars... |
OMIM:610733 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger... |
ORPHA:2886 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... |
ORPHA:2973 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polyda... |
OMIM:608091 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Lactose intolerance, Hypospadias, Large for gestational age, Hypopigmented skin patch... |
ORPHA:457485 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Ves... |
OMIM:617219 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Flat aceta... |
OMIM:619345 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Abnormality of the kidney, Joint stiffness, Hypoplastic il... |
ORPHA:1860 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Pe... |
OMIM:615398 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1425 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Pol... |
ORPHA:373 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Increased body weight, Glucose intolerance, Gastroeso... |
OMIM:117550 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl... |
OMIM:611134 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Premature birth, Anorexia, Abdominal pain, ... |
ORPHA:330015 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Knee ... |
ORPHA:3103 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:1373 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomal... |
ORPHA:369891 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vomi... |
OMIM:301068 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Patent ductus arteriosus, Short long bo... |
OMIM:618961 |
Emanuel Syndrome |
|
Inguinal hernia, Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal defec... |
OMIM:609029 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Scapular winging, Acute pancreatitis, Hypoglycemia, ... |
ORPHA:26791 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibros... |
ORPHA:84064 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Rubinstein-Taybi Syndrome 1 |
|
Flexion contracture, Aortic isthmus hypoplasia, Hypoplastic iliac wing, Atrial septal defect, Pro... |
OMIM:180849 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Split hand, Clubbing, Absent pu... |
OMIM:600460 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Inguinal hernia, Nephropathy, Nephrolithiasis, Hematuria, Umbilical hernia |
ORPHA:2196 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Pectus carinatum, Abnormal tricuspid valve morphology, Clinodactyly of the 5... |
ORPHA:1507 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... |
ORPHA:314585 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Secundum atrial septal defect, Short palm, Atrial septal defect, Short phalanx of fin... |
OMIM:249420 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... |
ORPHA:84085 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Death in infancy, Hypoplasia of penis, Ventricular septal defect |
ORPHA:452 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... |
OMIM:617950 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Hypospadias, Ventricular septal defect, Patent ductus ... |
OMIM:102500 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Hypospadias, Obesity |
OMIM:615985 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Coarse hair, Finger syndactyly, Hypospadias, Abnormality of ... |
ORPHA:261318 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Generalized... |
ORPHA:1596 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:277440 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... |
ORPHA:2975 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic constipat... |
ORPHA:3010 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia |
OMIM:246560 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, 2-3 toe... |
OMIM:618454 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... |
ORPHA:411593 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Bone-... |
OMIM:257200 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... |
ORPHA:2290 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... |
OMIM:220500 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Abnormality of the kidney, Cherry red spot of the macula, Hepatosplenomegaly, Ab... |
ORPHA:93399 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Multiple su... |
ORPHA:3369 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Short nose, Cystic renal dysplasia... |
OMIM:200995 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abdominal pain,... |
ORPHA:90003 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arac... |
OMIM:600325 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Camptodactyly of finger, Broad h... |
OMIM:300963 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Clinodacty... |
OMIM:184250 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Decreased fetal movement, Hypopigmentation of hair, Short stature, Feeding difficulties in infanc... |
ORPHA:177910 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... |
OMIM:612692 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand... |
OMIM:268310 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Dyspnea, Hepatosplenomegaly,... |
ORPHA:464329 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Synophrys, Renal cyst, Gastroesophageal reflux, Vesic... |
ORPHA:261494 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Micrognathia, Wris... |
OMIM:166300 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Inguinal hernia, Muscular ventricular septal defect |
OMIM:618354 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Elevat... |
ORPHA:289157 |
Odontochondrodysplasia |
|
Death in infancy, Bowing of the long bones, Coxa valga, Patent ductus arteriosus, Cone-shaped epi... |
ORPHA:166272 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Renal agenesis, Ventricular septal defect, Absent thumb, Paten... |
OMIM:300514 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Vertebral fusion, Arachnodactyly, Hypospadias, Sh... |
ORPHA:96169 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog... |
OMIM:601005 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Splenomegaly, Renal hypoplasia, Foot oligodactyly, Truncus... |
OMIM:616589 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory dia... |
OMIM:270420 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Biemond Syndrome Type 2 |
|
Short stature, Hypospadias, Preaxial polydactyly, Obesity, Delayed puberty |
ORPHA:141333 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Disp... |
OMIM:301039 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anem... |
OMIM:277900 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Splenomegaly, Patent ductus arteriosus, Umbilical hernia, Patent foramen ova... |
OMIM:251290 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Severe cytomegalovirus ... |
OMIM:617638 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Neon... |
OMIM:619362 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Disproportionate tal... |
OMIM:615668 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Polyhydramnios, Abdominal di... |
ORPHA:436252 |
Fibrochondrogenesis 1 |
|
Hypoplastic toenails, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of ... |
OMIM:228520 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Urethral atresia, Coars... |
ORPHA:1896 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Decreased fetal movement, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dy... |
OMIM:608776 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst... |
ORPHA:2031 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Mic... |
OMIM:602361 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, I... |
OMIM:300855 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Neonatal death, At... |
OMIM:265380 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Osteopenia, Inguinal hernia, Accessory spleen, Death in infa... |
OMIM:613177 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Thoracic aortic aneurysm, Pectus excavatum, Pectus carinatum, Mitral valve prolap... |
OMIM:616166 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent... |
OMIM:313850 |
Alg12-Cdg |
|
Recurrent respiratory infections, Wide nose, Hypospadias, Prominent nasal bridge, Recurrent ear i... |
ORPHA:79324 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Malar flattening, Clinodactyly |
OMIM:615984 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcino... |
ORPHA:769 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Hypoglycemia, Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipati... |
OMIM:248360 |
Hurler Syndrome |
|
Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Heparan sulfate excretion in urine, ... |
OMIM:607014 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect... |
ORPHA:169090 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Aganglionic megacolon, Highly arched eyebrow, Supernumerary nipple, Microg... |
ORPHA:247262 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Short toe, Dentinogenesis imperfecta, Obesity, Cone-shaped epiphyses... |
OMIM:619269 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Periportal fibrosis, Abnormality of the urinary system, Postaxial polyda... |
OMIM:213010 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Small for gestational age, Proximal placement of thumb, Short stature, Abnormal thum... |
ORPHA:94065 |
3Mc Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Single interphalangeal crease of fifth f... |
OMIM:257920 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Preaxial hand polydactyly, Premature... |
ORPHA:1297 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu... |
OMIM:257300 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Clinodactyly of the 5th finger, Pulmonic stenosi... |
OMIM:619149 |
Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s... |
ORPHA:3320 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Aspergillosis |
|
Sinusitis, Cough, Meningitis, Infectious encephalitis, Abnormality of the kidney, Chronic pulmona... |
ORPHA:1163 |
Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation |
ORPHA:95713 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Feeding difficulties in in... |
OMIM:115150 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Abnormality of the gastrointestin... |
ORPHA:85443 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, Polyhydramnios, Femoral bowing, Neonatal death, Small abnormally formed scap... |
OMIM:187600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent ... |
OMIM:614069 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:218330 |
Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Nausea and vomiting, Ab... |
ORPHA:79276 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan... |
OMIM:616730 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Hernia, Joint hyperflexibility |
ORPHA:75497 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of t... |
OMIM:158330 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, A... |
ORPHA:2710 |
Au-Kline Syndrome |
|
Gastroesophageal reflux, High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Bifi... |
OMIM:616580 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Persistence of primary teeth, Recurrent pneumonia,... |
OMIM:147060 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A... |
OMIM:137920 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Bilateral renal hypoplas... |
OMIM:243605 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Hypoplasia of the ulna, Abnormal rib... |
OMIM:118450 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Hernia, Clinodactyly of... |
ORPHA:3306 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, C... |
ORPHA:2462 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Hypospadias, Metatarsus adductus, P... |
OMIM:611962 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
De Barsy Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Ventricular septal defect... |
ORPHA:2962 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough,... |
ORPHA:276 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, A... |
ORPHA:2461 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Pectus carinatum, Hernia, Decreased skull ossification, Partial absence of toe, Hypos... |
ORPHA:955 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Short palm, Urethrova... |
ORPHA:93271 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Neutropeni... |
OMIM:612541 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car... |
OMIM:259710 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Supernumerary tooth, Hydrometrocolpos, Aplasia of the epiglottis, Horseshoe... |
OMIM:617088 |
Paroxysmal Hemicrania |
|
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea |
ORPHA:157835 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Micrognathia, Feeding difficulties i... |
OMIM:261515 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... |
OMIM:173900 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Prominent fingertip pads, Scapular winging, Congenital hip dislocation, Toe syndacty... |
OMIM:609625 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ... |
ORPHA:261265 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Sandal gap, Postaxial polydactyly, Micrognathia, Synophrys, Low anterior hairline, F... |
OMIM:615761 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Short stature, Intestinal malrotation, Craniosynostosis, Cleft palate, Feeding... |
ORPHA:457193 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Ventricular septal defect, Hypospadias, Overlapping toe, P... |
ORPHA:163956 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Polyhydramnios, Micrognathia, Bilateral talipes e... |
OMIM:609465 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypoglycemia, Micrognathia, Malar prominence, Long eyelas... |
ORPHA:48431 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun... |
ORPHA:293964 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Joint stiffness, Metatarsus adductus, Splenomegaly, Epiphyseal stippling, Enlarg... |
ORPHA:584 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Clinodactyly of the 5th finger, Pulmonary artery stenosis, Acute lymph... |
OMIM:280000 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Ureteral s... |
OMIM:309350 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Vomiting, Failure to t... |
OMIM:620357 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of ... |
ORPHA:79404 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Pectus excavatum, Shor... |
ORPHA:1519 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Large for gestational age, Tibial bowing, Proportionate tall stature, Spin... |
ORPHA:500095 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Short toe, Obes... |
OMIM:301900 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Multicystic kidney dysplasia, Hypoplastic fingernail, Hypospadias, Ag... |
ORPHA:2059 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Dumbbell-shaped long bone, Pectus excavatum, Delayed epiphyseal... |
OMIM:156550 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenomegaly, Renal hypoplasia, F... |
OMIM:617913 |
Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Postaxial hand polydactyly, Obesity, Horseshoe kidney |
OMIM:617406 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Abdominal distention, Fl... |
OMIM:602557 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Mandibular prognathia, Overlapping toe, Failure to thrive in ... |
OMIM:618975 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of finger... |
OMIM:616638 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Breathing dysregulation |
OMIM:610688 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Postaxial hand polydactyly, Anencephaly, Renal cyst,... |
OMIM:612284 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymph... |
ORPHA:1667 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach... |
ORPHA:83469 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Pectus excavatum, ... |
ORPHA:96167 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Short st... |
ORPHA:100 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abdominal distention, Dis... |
OMIM:277300 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Postaxial hand polydactyly, Vascular dilatation |
OMIM:220220 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Abnormality of the kidney, Cherry red spot of the macula, Hepatosplenomegaly, Ab... |
ORPHA:93400 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Joint stiffness, Broad metatarsal, Patent ductus art... |
OMIM:608328 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Left ventricular hypertrophy, Coronary art... |
OMIM:616833 |
Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
12Q14 Microdeletion Syndrome |
|
Thick eyebrow, Diabetes mellitus, Short stature, Intestinal malrotation, Ectopic kidney, Microgna... |
ORPHA:94063 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic he... |
ORPHA:2745 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Toluene Embryopathy |
|
Short stature, Micrognathia, Tapered finger, Abnormal localization of kidney, Hypoplasia of the z... |
ORPHA:1920 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Diarrhea, Growth delay, Increased hepati... |
OMIM:261750 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Decreased body weigh... |
ORPHA:93950 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurren... |
OMIM:300400 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... |
ORPHA:100078 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Congenital hip dislocation, Bowing of the long bones, Shoulder ... |
OMIM:255800 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal dental ... |
ORPHA:1334 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pectus excavatum, Reduced bone mineral density, Pulmonic stenosis, Atr... |
OMIM:615279 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Feeding difficulties in infancy, High palate, Sparse hair, Dystrophic fingernails, ... |
ORPHA:1340 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Limitation of joint mobility, Pulmonic stenosis, Aortic v... |
ORPHA:3449 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Splenom... |
ORPHA:93473 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... |
OMIM:210710 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Micrognathia, Hydrops fetalis, Renal cyst, High palate, Sparse hair,... |
OMIM:613610 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of Fallot, Hypospadias |
ORPHA:276422 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnormal finge... |
ORPHA:3138 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Cleft palate, Hypoplasia... |
OMIM:601076 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Denta... |
OMIM:219000 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... |
ORPHA:71212 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Pectus excavatu... |
ORPHA:2990 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly ... |
OMIM:117650 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Small for gestational age, Short stature, Postnatal growth retardation, Small hand, A... |
OMIM:616489 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, 4-hydroxyphenylacetic aciduria, P... |
OMIM:617156 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Tapered finger, Obesity, Growth delay, Talipes equinovaru... |
ORPHA:85282 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, ... |
ORPHA:96061 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Vaginal atresia |
OMIM:248450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Male urethral meatus... |
ORPHA:464738 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, ... |
OMIM:231100 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Multicystic kidney dysplasia, O... |
ORPHA:1454 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Coronal craniosynostosis, Patent ductus arteriosus |
OMIM:241310 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Patent ductu... |
OMIM:602782 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Grow... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Grow... |
ORPHA:71526 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis, Malar... |
OMIM:232400 |
Jacobsen Syndrome |
|
Feeding difficulties in infancy, Long hallux, Abnormality of the anus, Broad hallux phalanx, Fing... |
ORPHA:2308 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Short stature, Metatarsus adductus, High, narrow palate, Postnatal growth retarda... |
OMIM:612513 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Ventricular septal defect, Proteinuria, Arachnodactyl... |
OMIM:618348 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Joint laxity, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip... |
OMIM:619543 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis, Feeding difficulties |
OMIM:618240 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... |
ORPHA:500 |
Pearson Syndrome |
|
Hydrops fetalis, Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocy... |
ORPHA:699 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Clinodactyly of the 5th finger, Umbilical hernia, Inguinal hernia, Arthrogryposis multiplex conge... |
OMIM:615834 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Feeding difficulties, Dysphagia, Intrauterine growth retar... |
ORPHA:89844 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Ketonuria, Short statur... |
ORPHA:2089 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Postaxial hand polydactyly, Abnormal mes... |
ORPHA:2075 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Short stature, Synophrys, Abnormal renal morphology, Velopharyngeal insuff... |
OMIM:182290 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... |
ORPHA:2438 |
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 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Feeding difficulties, Decreased liver ... |
OMIM:246900 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Rib fusion, Obesi... |
ORPHA:261197 |
Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Cong... |
ORPHA:96170 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... |
ORPHA:505248 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular aortic stenosis |
ORPHA:1338 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short thumb, Patent ductus arteriosus, Abnorm... |
OMIM:244300 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... |
ORPHA:3411 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Wide anterior fontanel, Patent ductus arter... |
OMIM:217980 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Recurrent infections, Recurrent otitis media, Recurrent low... |
OMIM:619774 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Splenomegal... |
OMIM:300853 |
Koolen-De Vries Syndrome |
|
Feeding difficulties in infancy, High palate, Vesicoureteral reflux, Prominent fingertip pads, Ir... |
OMIM:610443 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/... |
ORPHA:3015 |
Acromegaloid Facial Appearance Syndrome |
|
Highly arched eyebrow, Large for gestational age, Tapered finger, Micrognathia, Synophrys, Large ... |
OMIM:102150 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock... |
OMIM:272950 |
22Q11.2 Duplication Syndrome |
|
Micrognathia, Urethral stenosis, Cleft palate, Hydronephrosis, Growth delay, Displacement of the ... |
ORPHA:1727 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Tibial bowing, Tarsometatarsal synost... |
OMIM:600383 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Abdominal distention, Rib fusion, Thin ribs, Ure... |
OMIM:271520 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Wide anterior fontanel, Thrombocytopenia, Splenomegaly, ... |
OMIM:606003 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Pectus excavatum, Meningoc... |
ORPHA:2789 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thick eyebrow, Bilateral single transverse palmar creases, Micrognathia, High, narrow palate, Sma... |
ORPHA:444002 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Abnorm... |
ORPHA:3409 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, ... |
ORPHA:818 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Ara... |
ORPHA:536545 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Um... |
OMIM:192430 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:614862 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Paten... |
OMIM:192350 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Inguinal hernia, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:1292 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Arthritis,... |
OMIM:613328 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... |
OMIM:266810 |
Mass Syndrome |
|
Arachnodactyly, Pectus carinatum, Mitral valve prolapse, Disproportionate tall stature, Ascending... |
OMIM:604308 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Short foot |
ORPHA:228399 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Hepatic necros... |
OMIM:231530 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, 2-3 toe synda... |
OMIM:618156 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia, Joint hypermobility, Pectus carinatum |
OMIM:617662 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, L... |
OMIM:617895 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Hypoplasia of the maxilla, Short mandibular condyles, Clitoral hypertrophy |
OMIM:264270 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Increased urine succinate level, Bilateral fetal pyelectasis... |
OMIM:606812 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Gastrointestinal dysmotility, Genu valgum, Growth delay, Ove... |
OMIM:617798 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Prominent fingertip pads, Clinodactyly of the 5th finger, Atrial septal de... |
OMIM:612474 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Proteinuria, Nephropathy, Nephrocalcinosis, Renal tu... |
OMIM:613404 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Long thorax, Narro... |
OMIM:619143 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Char Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Distal/middle symphalangism of 5th finger |
OMIM:169100 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Overgrowth, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Menkes Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Bowing of the long bones, Hypopigmentation of h... |
ORPHA:565 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextro... |
OMIM:616145 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, ... |
OMIM:194050 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Frontal encephalocele, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Micrognathia, Sparse eyebrow, Long fingers, Feeding difficulties, Fron... |
OMIM:617557 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Aganglionic megacolon, Ch... |
ORPHA:261222 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla... |
OMIM:145001 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Diastasis recti, Supraumbilical raphe, Hypochromic anemia |
OMIM:606893 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, Anteriorly placed anus, Ureteroce... |
OMIM:604292 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Hypoplastic thumbnail, Bifid dista... |
ORPHA:370010 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Re... |
ORPHA:169160 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Long fingers, Short t... |
OMIM:618659 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Patent ductus arteriosus, Short foot, Join... |
ORPHA:250989 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Myelomeningocele, Short stat... |
OMIM:620141 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Renal cyst, Vomiting, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, Pelvic... |
ORPHA:464306 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, P... |
ORPHA:284 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Rhinitis, Elevated urinary dopamine level, Nocturia |
ORPHA:230 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss... |
OMIM:300636 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Hyperconvex nail, Postaxial polyd... |
OMIM:619721 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot... |
OMIM:200980 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus |
OMIM:122430 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Abnormality of the kid... |
ORPHA:391372 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Decreased body mass i... |
ORPHA:586 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Oculofaciocardiodental Syndrome |
|
Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Mitral valve prolapse, Genu valgum, Ha... |
ORPHA:2712 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Small hand, Short ... |
ORPHA:915 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Hip dys... |
OMIM:618846 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesis, Increased mean platelet... |
OMIM:616737 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Inguinal hernia, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnormal... |
OMIM:616362 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Severe B lymphocytopenia, Arachnodactyly, Long clavicles, Overlapping toe, Contr... |
ORPHA:83617 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Pectus ex... |
OMIM:609942 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal thumb, Atrial ... |
ORPHA:84 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Feeding difficu... |
ORPHA:276575 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... |
OMIM:617475 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho... |
ORPHA:666 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Hypoplasia of the ulna, Wide anterior fontanel, Ulnar bowing, Poorly ossified v... |
OMIM:619135 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pan... |
ORPHA:521219 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, ... |
OMIM:108720 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Eczema, Pneumonia, Splenomegaly, Asthma, Fa... |
OMIM:607271 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinodactyly of the... |
ORPHA:2001 |
Opitz Gbbb Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Rectourethral fistula, Wide anterior fon... |
OMIM:300000 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N... |
OMIM:304120 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Pos... |
ORPHA:96184 |
Joubert Syndrome 14 |
|
Encephalocele, Highly arched eyebrow, Postaxial polydactyly, Meningocele, Cleft palate, Renal cys... |
OMIM:614424 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Hip dislocation, Obesity, Hyposthenuria, Gastroesophageal refl... |
OMIM:615926 |
Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent... |
OMIM:615468 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Feeding di... |
ORPHA:276556 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... |
OMIM:102700 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Renal agenesis, Obesity, Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology... |
ORPHA:247768 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... |
ORPHA:90117 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar devia... |
ORPHA:56304 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Fat ... |
ORPHA:71 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an... |
OMIM:619910 |
Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Fetal pyelectasis, Nephrocalcinosis, Ap... |
ORPHA:264450 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... |
OMIM:617641 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... |
OMIM:613027 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, ... |
OMIM:300968 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Rhizomelia, Iliac crest serration, Limited knee ... |
ORPHA:239 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... |
ORPHA:51890 |
Trisomy 18 |
|
Abnormal toenail morphology, Bilateral single transverse palmar creases, Microretrognathia, Short... |
ORPHA:3380 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia, Feeding difficulties |
OMIM:616111 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... |
OMIM:619431 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Patent ductus arte... |
ORPHA:77298 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Death in infancy, Hypoplasia of penis, Finger syndactyly, Mitral stenosis, Camptod... |
ORPHA:2008 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerst... |
OMIM:251000 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Death in infancy, Abnormal clavicle mor... |
ORPHA:991 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Small for gestational age, Hypog... |
OMIM:607143 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Short stature, Genu recurvatum, Malar flattening, Narrow palate, Macrodont... |
ORPHA:364028 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent infections, ... |
OMIM:617514 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Hypoglycemia, Vomiting, Hepatic failure, Hepatic s... |
OMIM:617872 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Small hand, 2-3 toe syndactyly... |
ORPHA:284180 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Patent ductus arteriosus, Brachydactyly |
OMIM:610498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, 2-3 toe syndactyly,... |
OMIM:618653 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Micrognathia, Long fingers, Synophrys, High, narrow p... |
ORPHA:96092 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hyd... |
OMIM:620327 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi... |
OMIM:226990 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect |
ORPHA:3469 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Polyhydramnios, Short tubular bones of the hand, Disproporti... |
OMIM:200610 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Monorchism, Renal agenesis, Renal hypoplasia/aplasia, Micrognat... |
ORPHA:2753 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Hepatic failure |
ORPHA:156 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Short stature, Abnormal rib morphology, Obesity, Abnormal... |
ORPHA:2234 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Short ... |
OMIM:614524 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Narrow greater sciatic notch, Shor... |
OMIM:312870 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Prune belly, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Diethylstilbestrol Syndrome |
|
Central apnea, Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive sy... |
ORPHA:1916 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Microretrognathia, Syndac... |
OMIM:311200 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... |
ORPHA:2298 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... |
ORPHA:98813 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia, Abdominal distention, Knee contracture, Feeding difficulties, Umbilical hernia, Gas... |
OMIM:620275 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Craniosynostosis, Micropenis, Perineal hypospadias, Pectus cari... |
ORPHA:3134 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegal... |
OMIM:309900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Bowing of the legs, Abdominal distention, Delayed epiphyseal ossification, ... |
ORPHA:93352 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia |
ORPHA:2123 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... |
ORPHA:35878 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major mu... |
ORPHA:1358 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Polydactyly, Abnormality of the kidney, Obesity |
OMIM:613464 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Micrognathia, Malar prominence, Progressive vitiligo, T lymphocytopenia, Short stature... |
OMIM:251260 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Arterial tortuosity, Desce... |
OMIM:609192 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Splenomegal... |
OMIM:613179 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Poor suck, Hypoglycemia |
OMIM:615026 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiti... |
OMIM:619991 |
Rin2 Syndrome |
|
Brachydactyly, Increased susceptibility to fractures, Abnormal sternum morphology, Umbilical hern... |
ORPHA:217335 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Vomiting, Ketotic hypoglycemia |
ORPHA:79159 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, Splenomegaly, Patent ductus arteriosus, Obesity, Anoma... |
OMIM:616368 |
Wagr Syndrome |
|
Micrognathia, Cryptorchidism, Obesity, Ambiguous genitalia, Displacement of the urethral meatus |
ORPHA:893 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Decreased fetal movement, Sparse eyelashes, Hypoglycemia, Poly... |
OMIM:619075 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Ventricular septal d... |
OMIM:214300 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, Small fo... |
OMIM:300707 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Broad jaw, Hype... |
ORPHA:10 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex rever... |
OMIM:154230 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Mitral va... |
OMIM:616564 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... |
OMIM:136140 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Polydactyly, Postaxial, Type A8 |
|
Nail dysplasia, Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Brittle ... |
OMIM:305600 |
Alg9-Cdg |
|
Microretrognathia, Hypoplasia of the bladder, Hepatomegaly, Depressed nasal bridge, Ureteral hypo... |
ORPHA:79328 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:366 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, ... |
OMIM:616449 |
Ellis Van Creveld Syndrome |
|
Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synostosis of carp... |
ORPHA:289 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Vascular dilatation, Patent ductus arteriosus, Arterial st... |
ORPHA:2637 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Short stature, Bowel urgency, Bowel incontinence, Silver-gray hair, Hip dislocation, Horseshoe ki... |
ORPHA:101003 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Pectus excavatum, Patent ductus arteriosus, 2-3 toe syndactyly, Knee flexion c... |
OMIM:618162 |
Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Abnor... |
OMIM:300989 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Patent ductus arteriosus, Sprengel anomaly, Contracture of the proximal in... |
OMIM:618223 |
Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, Prominent ... |
ORPHA:96148 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retardation, Small hand, Obe... |
ORPHA:254531 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, I... |
OMIM:215600 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Ventricular se... |
ORPHA:97360 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ... |
OMIM:272460 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Vomiting, Gastroesophageal reflux, Micropenis, Pelvic kidney, Hypospa... |
ORPHA:464311 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Taper... |
ORPHA:2953 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Short stature, Thick hair, Highly arched eyebrow, Tapered finger, Overweig... |
ORPHA:401923 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Proteinuria, Sagittal craniosynostosis, Hematuria, T... |
OMIM:616901 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Hypospadias, Micrognathia, Wide nasal bridge, Depressed nasal tip, Microphallus, Hyp... |
OMIM:612651 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Small hand... |
OMIM:300712 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Cleft palate, Feeding difficulties, Growth delay, High palate, Failure to thrive, Hydronephrosis |
ORPHA:488613 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno... |
ORPHA:1606 |
Gapo Syndrome |
|
Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Abnormal thorax morphology, ... |
ORPHA:2067 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Nasogastric tube... |
ORPHA:221120 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Broad thumb, 2-3 toe cutaneous syndactyly |
OMIM:617364 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Polyhydramnios, Bladde... |
OMIM:614080 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers... |
OMIM:617022 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, Ureterocele, Sparse hair, Vesicou... |
OMIM:129900 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Splenomegal... |
ORPHA:354 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis,... |
ORPHA:2044 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia,... |
OMIM:618282 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Thrombocytopenia, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Ves... |
OMIM:603467 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Limi... |
ORPHA:576 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Failure to thrive, Proteinuria... |
ORPHA:1018 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Limited knee flexion, Short... |
OMIM:258315 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Tapered finger, High, narrow palate, Obesity, Cafe-au-lait spot, Hirsutism |
OMIM:619255 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Protruding tongue, Prominent eyelashes, Feeding difficulties, Chronic constipation... |
OMIM:619179 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol... |
ORPHA:847 |
Osteopathia Striata With Cranial Sclerosis |
|
Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, Atrial septal d... |
OMIM:300373 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Joint stiffness, Broad metatarsal, Patent ductus arteriosus, Pulmonic ... |
OMIM:277600 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Short stature, Ankle flexion contracture, Hypoglycemia |
OMIM:618120 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Umbilical hernia, Hip dysplasia, Pulmonic stenosis, Tapered finger |
OMIM:616977 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture, V... |
OMIM:603387 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Patent ductus arteriosus, Abnor... |
ORPHA:86818 |
Temple Syndrome |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Ove... |
OMIM:616222 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Pectus excavatum, Patent... |
OMIM:617061 |
Three M Syndrome 1 |
|
Joint dislocation, Mandibular prognathia, Scapular winging, Hypospadias, Small for gestational ag... |
OMIM:273750 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ... |
OMIM:614450 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sandal gap, Long fingers, Patent ductus arteriosus, Limitation of joint mobility, Patel... |
ORPHA:261279 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, 2-3 toe ... |
OMIM:608572 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Obesity |
ORPHA:589821 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Feeding difficulties in infancy, Postnatal growth retardation, Acromicria, Small ha... |
ORPHA:254525 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Short stature, Microme... |
OMIM:259775 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular septal defect, Hydronephr... |
OMIM:607598 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Inguinal hernia, Metatarsus adductus, Calcaneovalgus deformity... |
OMIM:616266 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin... |
ORPHA:2995 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Necrotizing Enterocolitis |
|
Small for gestational age, Premature birth, Abdominal distention, Leukocytosis, Peritonitis, Diar... |
ORPHA:391673 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pectus... |
ORPHA:65286 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Growth delay, Vomi... |
OMIM:615453 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Growth delay, Polysplenia, Abnormal rad... |
OMIM:617784 |
Joubert Syndrome 10 |
|
Feeding difficulties in infancy, Growth delay, Hirsutism, Postaxial polydactyly |
OMIM:300804 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay |
OMIM:306000 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Feeding difficulties in infancy, Preaxial polydactyly, Finger clinodactyly, Lobulat... |
ORPHA:2754 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, C... |
OMIM:277170 |
Chung-Jansen Syndrome |
|
Tapered finger, Micrognathia, Synophrys, Obesity, Feeding difficulties, Hip dysplasia, High palat... |
OMIM:617991 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
Spastic Paraplegia 16, X-Linked |
|
Urinary urgency, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction, Urinary incont... |
OMIM:300266 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Oste... |
ORPHA:2409 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphol... |
ORPHA:101000 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Wide anterior fontanel |
OMIM:275100 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Feeding difficulties in infancy, Synophrys, Gastroesophageal... |
ORPHA:819 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... |
ORPHA:3260 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Abdominal pain, Hypereosinophilia, Weight loss, Hydronephrosis |
ORPHA:449400 |
Phelan-Mcdermid Syndrome |
|
Thick eyebrow, Abnormality of the kidney, Micrognathia, Hypoplastic toenails, Toenail dysplasia, ... |
OMIM:606232 |
Leigh Syndrome |
|
Gastrointestinal dysmotility, Complex organic aciduria, Neutropenia, Frontal hirsutism, Alopecia,... |
ORPHA:506 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Pectus excavatum, Patent ductus arteriosus, Hypercalciuria, Renal c... |
ORPHA:369837 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Proximal placement of thumb, Patent foramen ovale, Patent ductus arter... |
OMIM:620113 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Tenorio Syndrome |
|
Mandibular prognathia, Hypoglycemia, Delayed cranial suture closure, Macroglossia, Enuresis, Gast... |
OMIM:616260 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Inguinal hernia, Multiple joint contractures, Short fourth metatarsal, Brachydactyl... |
OMIM:618143 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h... |
OMIM:114290 |
Kinsship Syndrome |
|
Mandibular prognathia, Short stature, Single transverse palmar crease, Coxa valga, Micrognathia, ... |
OMIM:619297 |
Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Feeding difficultie... |
ORPHA:79644 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Chronic constipation, Spina bifida occulta, Hydronephrosis |
OMIM:618060 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Micrognathia, Abnormal l... |
ORPHA:2510 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Single transverse palmar crease, T... |
ORPHA:444072 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Cystic angiomatosis of bone, Lipodystro... |
OMIM:269700 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... |
OMIM:617952 |
Ichthyosis Prematurity Syndrome |
|
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect, Slender finger |
OMIM:147800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Anal stenosis, Urinary incontinence, Sept... |
OMIM:176450 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Ectopic kidney, Feeding difficulties in infancy, Promi... |
OMIM:135900 |
Macs Syndrome |
|
Joint laxity, Dilation of Virchow-Robin spaces, Pectus excavatum, Urethral stenosis, Osteoporosis... |
OMIM:613075 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Feeding difficulties |
OMIM:614739 |
Chime Syndrome |
|
Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phal... |
ORPHA:3474 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia,... |
ORPHA:99772 |
D-Glyceric Aciduria |
|
Hypoglycemia, Single transverse palmar crease, Reduced hepatic D-glycerate kinase activity, Growt... |
OMIM:220120 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulce... |
ORPHA:143 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Small for gestational age, Hypoglycemia, Poor suck, Decreased live... |
OMIM:615160 |
Silver-Russell Syndrome 2 |
|
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Clin... |
OMIM:618905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Broad ribs, Hypopigmentation of the skin, Broad metacarpals, Hepatomega... |
OMIM:301066 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Sprengel anomaly, Micropenis, Humeroradial synos... |
OMIM:134780 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Pa... |
ORPHA:363528 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Tetralogy of Fallot, Hypospadias, Genu valgum |
ORPHA:1381 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post... |
OMIM:263520 |
Trisomy 10P |
|
Micrognathia, Gastroesophageal reflux, High palate, Abnormal hip joint morphology, Absent gallbla... |
ORPHA:171929 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal d... |
ORPHA:567 |
Perlman Syndrome |
|
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Polyhydramnios, Large for ... |
OMIM:267000 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Sepsis, Meningitis, Pneumonia |
ORPHA:464370 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Umbilical hernia, Inguinal hernia |
OMIM:613544 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Inguinal hernia, Prominent superficial veins, Arachnodactyly, Hiatus hernia, Genera... |
OMIM:130080 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Proteinuria, Nonimmune hydrops feta... |
OMIM:212065 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... |
ORPHA:894 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vomiting, Elev... |
OMIM:210200 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Coronary artery stenosis, Stroke |
OMIM:615812 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Hepatosplenomegaly, Oligosacchariduria, Pectus carinatum, Camptodactyly... |
ORPHA:397709 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis |
ORPHA:60041 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Broad eyebrow, Hypospadias, Short stature, Micrognathia, Widow's peak, Vesicoureteral... |
OMIM:616975 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Micr... |
ORPHA:140 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Feeding difficulties in infancy, Mi... |
ORPHA:199 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Short metacarpal, Ventricular septal defect, Eosin... |
OMIM:616651 |
Analbuminemia |
|
Patent ductus arteriosus, Lipodystrophy, Osteoporosis |
OMIM:616000 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Pectus excavatum, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con... |
OMIM:616866 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Inguinal hernia, Pointed proximal second through fifth metacarpals, Grayish enamel,... |
OMIM:253010 |
Prader-Willi Syndrome |
|
Polyhydramnios, Feeding difficulties in infancy, Short palm, Low 1-minute APGAR score, Micropenis... |
OMIM:176270 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Feeding difficulties in infancy, Synophrys, 2-3 toe syndactyly, Increased body we... |
ORPHA:589905 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... |
ORPHA:2549 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Prenatal movement abnormality, Feeding difficulties, Low APGAR score, Fetal distres... |
ORPHA:3006 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, F... |
ORPHA:96201 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Short stat... |
ORPHA:2785 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Thyroiditis, Sepsis, Nephrotic syndrome, Erythroderma, Fai... |
ORPHA:39041 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Polyhydramnios, Squared iliac bones, Hypoplas... |
OMIM:258480 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Poor appetite, Hypocitratu... |
ORPHA:18 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Limited elbow extension, Ventricular septal defect |
OMIM:615236 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Feeding difficulties in infancy, Synophrys, Hypertrophy of the urinary bladder, Gastroesophageal ... |
ORPHA:280633 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Breech presentation, Synophrys, Proximal renal tubular acidosis, Vomiting,... |
OMIM:615824 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Hypoglycemia, Hyperglycinuria, Feeding difficulties, Organic aciduria, Vomit... |
OMIM:210210 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Cervical ribs, Ventricular septal defect, Pectus carinatum |
OMIM:609654 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Overweight, Hypoplastic left heart, Joint contrac... |
OMIM:619562 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ... |
ORPHA:568 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:231144 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... |
OMIM:154400 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Bulbous nose, Recurrent otitis media, Periodontitis, Bronchiolitis |
OMIM:266265 |
Neuromuscular Oculoauditory Syndrome |
|
Retinal pigment epithelial mottling, Knee flexion contracture, Multiple renal cysts, Talipes equi... |
OMIM:618733 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Intestinal malr... |
OMIM:113650 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hematuria, Increased circulating ... |
OMIM:185070 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... |
OMIM:278300 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... |
ORPHA:100086 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Bro... |
ORPHA:798 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Premature birth, Feeding difficulties, ... |
ORPHA:79096 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Anemia,... |
OMIM:246450 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, B... |
OMIM:619695 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Hypospadias, Hypoglycemi... |
ORPHA:17 |
Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Coronal craniosynostosis, Micropenis, Peri... |
OMIM:312830 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal ar... |
ORPHA:565612 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... |
OMIM:616576 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadias, Rocker... |
ORPHA:163979 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Ca... |
ORPHA:904 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Ventricular septal defect, Hypoplastic right heart, Pulmonary artery atr... |
OMIM:616894 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, Feeding difficulties in infancy, Hig... |
OMIM:147920 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac... |
OMIM:619351 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Abnormal renal morpho... |
OMIM:609053 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ... |
ORPHA:439822 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Hiatus her... |
OMIM:304150 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, R... |
ORPHA:49041 |
Down Syndrome |
|
Thickened nuchal skin fold, Sandal gap, Bilateral single transverse palmar creases, Aganglionic m... |
ORPHA:870 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdomi... |
ORPHA:822 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Malabsorption, Micrognathia, Chronic diarrhea, Decreas... |
OMIM:233600 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Vomiting, High palate, Hepatic steatosis, Accessory spleen, Hep... |
OMIM:619418 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Abnormali... |
ORPHA:79409 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Short stature, Spina bifida, Micrognathia, Myelome... |
ORPHA:1393 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Gastroesophageal reflux, Clinodactyly of the 5th fing... |
ORPHA:96263 |
White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Anteriorly placed anus, ... |
OMIM:619426 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Long clavicles, Pectus excavatum, Patent ductus arteriosus, Limitation of joint mobil... |
OMIM:259100 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology |
ORPHA:95717 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Ventricular septal defect, Abnormal ossification involving the fe... |
ORPHA:79345 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulce... |
ORPHA:99880 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Metopic synostosis, Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
OMIM:613735 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly |
OMIM:601357 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Broad hallux, Sandal gap, 2-3 toe cutaneous... |
OMIM:300166 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Ren... |
OMIM:180700 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Prominent fingertip pads, Sandal gap, Patent ductus arteriosus, Dysplastic tricuspid valve, Small... |
OMIM:612863 |
Complete Androgen Insensitivity Syndrome |
|
Tall stature, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchi... |
ORPHA:99429 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide, Coiled sperm flag... |
OMIM:620197 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Recurrent urinary tract infections, Psoriasiform dermatitis, Antev... |
ORPHA:221139 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Hepatic fibrosis, Elevated gamma-glutamy... |
OMIM:243800 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, 3-Methylglutaconic aciduria, Death in childhood, Neonatal death, Um... |
OMIM:614052 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Chronic const... |
OMIM:620211 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Arachnodactyly, Tapered finger, Secundum atrial septal defect, Pe... |
ORPHA:1600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Episodic abdominal pain, Reduced ca... |
ORPHA:228305 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
3-Methylglutaconic Aciduria, Type Viib |
|
Decreased fetal movement, Rhizomelia, Neonatal hypoglycemia, Micrognathia, Polyhydramnios, Brachi... |
OMIM:616271 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Feeding difficulties, Obesity, Ve... |
ORPHA:464288 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypoglycemia, Gastrointestinal dysmotility... |
ORPHA:391428 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Joint h... |
ORPHA:555877 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal m... |
ORPHA:59315 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Rectal fistula, Fetal pyelectasis, Bilate... |
ORPHA:49 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Neutropenia, U... |
OMIM:614520 |
Kabuki Syndrome |
|
Hypoplasia of penis, High palate, Hypospadias, Short stature, Highly arched eyebrow, Obesity, Ure... |
ORPHA:2322 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Brit... |
OMIM:124000 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Generalized joint laxity, Pectus carinatum, Righ... |
OMIM:619472 |
3Mc Syndrome 3 |
|
Short stature, Highly arched eyebrow, Preaxial polydactyly, Horseshoe kidney, Micropenis, Feeding... |
OMIM:248340 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Abdominal pain, Diarrhea, Vomiting, Pancreatitis |
OMIM:620137 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Death in infancy, Inguinal hernia, 11 pairs of ribs, Rocker bottom foot, Acant... |
OMIM:618947 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Hydroureter, Ventricular septal defect, Abnormal de... |
ORPHA:1458 |
Amme Complex |
|
Inguinal hernia, Sandal gap, Diastasis recti, Clinodactyly of the 2nd toe, Hematuria, Elliptocyto... |
OMIM:300194 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Atopic dermatitis, Obesity |
ORPHA:397973 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosu... |
OMIM:614700 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Increased level of hippuric acid in urine, Feeding difficulties in infancy, Vomitin... |
OMIM:248600 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Pneumonia, Abnormality of the kidney, Myositis... |
ORPHA:228119 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... |
ORPHA:439167 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad hallux, Hypoglycemia, Tapered finger, Micrognathia, Short thumb, Low anterior hairline, Hip... |
OMIM:620224 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Inguinal hernia, Multiple joint contractures, Hypospadias, Broad hallux, Wide anterio... |
OMIM:305450 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... |
OMIM:617237 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Anteverted nares, Broad nas... |
OMIM:615873 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Toe s... |
OMIM:610759 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Premature g... |
ORPHA:1775 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Abnormal de... |
ORPHA:1782 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Joint stiffness, Vasculitis, Hematuria, Arthritis, Aortic diss... |
ORPHA:397 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Asthma, Bronchiectasis, Re... |
OMIM:616037 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Polydactyly |
OMIM:617120 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Postaxial... |
ORPHA:2166 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th fi... |
OMIM:619123 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Recurrent respiratory infections, Rhinitis, Depressed nasal bridge |
OMIM:614941 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Duplication of phalanx of hallux, Micropenis, Ao... |
OMIM:243310 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age |
OMIM:617119 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy... |
OMIM:107480 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Large for gestational age, Micrognathia,... |
OMIM:213980 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Renal insufficiency, Hypoglycemia, Anorexia, Decreased ur... |
ORPHA:95409 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Coarse hair, Generalized hirsutism, Hepatomegaly, Abnormal rib morphology... |
ORPHA:581 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Micrognathia, Bronchiectasis, Macroglossi... |
OMIM:242860 |
Monosomy 13Q34 |
|
Micrognathia, Postaxial hand polydactyly, Fetal pyelectasis, Insulin resistance, Obesity, Postaxi... |
ORPHA:96168 |
Charge Syndrome |
|
Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary artery atresia, ... |
OMIM:214800 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Congenital hip dislocation, Pectus excavatum, Hip dislocation, Umbilical hernia,... |
OMIM:219150 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, 2-3 toe syndactyly, Micropenis |
OMIM:106260 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Renal hypoplasi... |
ORPHA:75389 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Hypospadias, Sparse eyelashes, Short stature, Feeding difficulties in infancy, S... |
OMIM:613026 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Weight lo... |
ORPHA:2221 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Failure to t... |
OMIM:606367 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,... |
OMIM:616367 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Polyhydramnios, Hi... |
OMIM:218040 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mit... |
ORPHA:251066 |
Basilicata-Akhtar Syndrome |
|
Short palm, Single transverse palmar crease, Feeding difficulties, Short foot, Chronic constipati... |
OMIM:301032 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Renal cyst, Occipital myelo... |
OMIM:213300 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Respiratory t... |
ORPHA:31202 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Decreased fetal movement, Failure to thrive, Single transverse palmar ... |
OMIM:247200 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia... |
ORPHA:96191 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Reticulated skin pigmentation, ... |
OMIM:613989 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Short stature, Abdominal distention, Hypochromic microcytic anemia, Arthritis, Sept... |
OMIM:619423 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Recur... |
ORPHA:436159 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Splenomegaly, Patent ductus arteriosus, Small hand, Upper limb undergr... |
OMIM:608799 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Slender build, Tall stature |
OMIM:300676 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... |
ORPHA:37042 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defe... |
OMIM:600373 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Unilate... |
ORPHA:96121 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Thrombocytopenia, Patent duct... |
OMIM:277380 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, Splenomegaly, ... |
OMIM:605309 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Acne, Obesity |
OMIM:604931 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Umbilical hernia, Inguinal hernia |
OMIM:616025 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Thick eyebrow, Congenital hip dislocation, Short stature, Hypoglycemia, Ta... |
OMIM:616007 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Aganglionic megacolon, Elevated urinary norepinephrine leve... |
ORPHA:653 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:352665 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, High, narrow palate, Obesity, Low posterio... |
ORPHA:2183 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Premature... |
OMIM:113620 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Postnatal growth retardation, Metaphys... |
ORPHA:73230 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Prominent metopic ridge, Craniosynostosis, Nasogastric... |
ORPHA:453499 |
Chand Syndrome |
|
Hydroureter, Atelectasis, Cleft palate, Agenesis of maxillary incisor, Bifid tongue, Imperforate ... |
ORPHA:1401 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Curved middle phalanx of the 4th toe, Arachnodactyly, Patent ductus arteriosus, Joint hyperflexib... |
ORPHA:276413 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Renal insufficiency, Obesity, Conotruncal d... |
ORPHA:96147 |
Eosinophilic Gastroenteritis |
|
Asthma, Atopic dermatitis, Allergic rhinitis, Weight loss |
ORPHA:2070 |
Cohen Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High, narrow palate, Hypoplasia of the maxilla, Lo... |
ORPHA:193 |
Carpenter Syndrome 2 |
|
Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Cutaneous finger syn... |
OMIM:614976 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Feeding difficulties, 3-Methylglutaconic aciduria, B... |
OMIM:618329 |
Tetrasomy 9P |
|
Joint dislocation, Micrognathia, Biliary atresia, High palate, Clinodactyly of the 5th finger, Mi... |
ORPHA:3310 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Feeding difficulties in infancy, High palate, Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Nausea and vomiting, Hypoplastic toenails, Dental malocclusion, Vesicoureteral r... |
ORPHA:48652 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Sprengel anomaly, Coarctation of aorta, Micropenis, Atrioventricular canal defect |
OMIM:618929 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Renal cyst, Renal cell carcinoma, Hypomelanotic macule, Preauricular hair dis... |
OMIM:191100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Hip contracture, Inguinal hernia, Vertebral fusion, Ventricular septal defec... |
OMIM:178110 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Mesomelic/rh... |
ORPHA:2347 |
Adnp Syndrome |
|
Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Monosomy 9Q22.3 |
|
Large for gestational age, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Joint hype... |
ORPHA:77301 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnorm... |
ORPHA:217085 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynosto... |
ORPHA:2095 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short... |
OMIM:617450 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Hypospadias, Allergic rhinitis, Recurrent viral infections, Allergic c... |
OMIM:176690 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Poly... |
OMIM:602522 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hyperextensibility of the finger joints, Splenomegaly, Patent ductus arteri... |
OMIM:135500 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Vaginal fistula, Horseshoe kidney |
OMIM:619318 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Cystic angiomatosis of bone, Lipodystro... |
OMIM:608594 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Feeding difficulties, Intrauterine growth retardation, F... |
OMIM:614702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Di... |
ORPHA:287 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Wide anterior fontanel, Umbilical hernia, Decre... |
ORPHA:2963 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema |
OMIM:261740 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... |
ORPHA:487796 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the hand, Thro... |
ORPHA:905 |
Schwartz-Jampel Syndrome |
|
Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Increased bone mineral ... |
ORPHA:800 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Urinary incontinence, I... |
ORPHA:2729 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Short toe, Hyperinsulinemia, Obesity, Polycys... |
ORPHA:3085 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Short stature, Abnormal morphology of ulna, Obesity, Low posterior hairli... |
ORPHA:2233 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Sepsis, S... |
ORPHA:36238 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Hypoplasia of th... |
OMIM:305100 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroidit... |
ORPHA:139402 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl... |
ORPHA:537 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc... |
ORPHA:353277 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Feeding difficulties, Proximal tubulopathy, Vomiti... |
ORPHA:2609 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Premature graying of hair, Hepatomegaly, Short stature, Lymphadenopathy, Finge... |
OMIM:256040 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium a... |
OMIM:614172 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
C Syndrome |
|
Joint dislocation, Multicystic kidney dysplasia, Toe syndactyly, Failure to thrive in infancy, Sh... |
ORPHA:1308 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Hip dislocation, Genu valgum, Fasting hypoglycemia, Achalasia, Thick eyebrow |
ORPHA:436174 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca... |
ORPHA:3404 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnorm... |
ORPHA:217093 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Thoracic scoliosis, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tub... |
OMIM:619636 |
Distal Deletion 3P |
|
Inguinal hernia, Postaxial hand polydactyly, Clinodactyly of the 5th finger, Umbilical hernia, At... |
ORPHA:1620 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Chronic rhinitis |
OMIM:615225 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Sho... |
OMIM:605130 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Umbilical hernia |
OMIM:273390 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Tapered finger, Patent ductus arte... |
OMIM:619293 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, S... |
OMIM:308230 |
Diamond-Blackfan Anemia 21 |
|
Micrognathia, Synophrys, Coarse hair, Short stature, Tapered finger, Short toe, Chronic diarrhea,... |
OMIM:620072 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Hypoglycemia, Feeding difficulties, Cholestati... |
ORPHA:5 |
Doors Syndrome |
|
Abnormal placental membrane morphology, Polyhydramnios, Abnormal finger morphology, Low anterior ... |
ORPHA:79500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly,... |
OMIM:309520 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Polyhydramnios, Micrognathia, ... |
ORPHA:1052 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Hypomelanoti... |
OMIM:613254 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Intestinal malrotation, Short hallux, Unilateral renal agenesis, Highl... |
OMIM:620305 |
Nager Syndrome |
|
Unilateral renal agenesis, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, Re... |
ORPHA:245 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Left ventricula... |
ORPHA:31150 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P... |
ORPHA:564 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Neonatal hypoglycemia, Malabsorp... |
OMIM:619004 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tong... |
OMIM:610253 |
Ssr4-Cdg |
|
Patent ductus arteriosus, Horseshoe kidney |
ORPHA:370927 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the fascia, Abnormal thoracic spine morphology, Finger dactylitis, Abnormal metaca... |
ORPHA:85438 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hepatitis, Biliary cirrhosis... |
ORPHA:186 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Holoprosencephaly |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Synophrys, Gastr... |
ORPHA:2162 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Hypertrichosis, Feeding difficulties, ... |
OMIM:619479 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... |
ORPHA:420741 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... |
OMIM:232240 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Heparan sulfate excretion in urine, Co... |
OMIM:607015 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Addison Disease |
|
Normocytic anemia, Nausea and vomiting, Hypoglycemia, Anorexia, Decreased urinary potassium, Rena... |
ORPHA:85138 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Small hand, Aortic root aneury... |
OMIM:145420 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Craniosynostosis |
ORPHA:1790 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia |
OMIM:620184 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise... |
OMIM:201475 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Hypoplasia of the maxilla, Vesicoureteral reflux, Short nos... |
OMIM:614261 |
Cholera |
|
Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Premature birth, Abdominal pain, Diar... |
ORPHA:173 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Clinodactyly of the 5th finger, Neutropenia, Atrial sept... |
OMIM:618067 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Bulbous nose, Convex nasal ridge, Recurrent viral infections |
ORPHA:169079 |
Digeorge Syndrome |
|
Renal dysplasia, Inguinal hernia, Renal insufficiency, Femoral hernia, Ventricular septal defect,... |
OMIM:188400 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias... |
ORPHA:93930 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:1307 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Pectus excavatum, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Filippi Syndrome |
|
Finger clinodactyly, Ventricular septal defect, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... |
OMIM:231670 |
Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Large for gestational age, Atrial septal defect, Micropenis, Atrioventricular can... |
ORPHA:672 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Thoracic aortic aneurysm, Pectus excav... |
OMIM:617168 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Micrognathia, Feeding difficulties in infancy, Oligosacchariduria, Nephroc... |
ORPHA:534 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Sepsis, Hepatosplenomegaly, Rec... |
OMIM:612840 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hypospadias, Overlapping toe, Tapered finger, Short thumb, Penoscrotal transpositi... |
OMIM:619148 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Pectus excavatum, General... |
OMIM:601776 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Gastroesophageal... |
ORPHA:70472 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect... |
ORPHA:79329 |
Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... |
OMIM:261540 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
Acrocallosal Syndrome |
|
Finger syndactyly, Inguinal hernia, Toe syndactyly, Hypospadias, Abnormal pulmonary valve morphol... |
OMIM:200990 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Scapular winging, Ventricular septal defect... |
OMIM:615582 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections... |
OMIM:603554 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... |
ORPHA:3210 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Umbilical hernia |
ORPHA:2349 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Sple... |
ORPHA:79477 |
Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomega... |
ORPHA:580 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla... |
ORPHA:763 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic... |
ORPHA:370348 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Hypoglycemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal deat... |
OMIM:618835 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Short ribs, Dysphagia, Hyperech... |
OMIM:615636 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Hypoglycemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal deat... |
OMIM:618839 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Generalized hyperpigmentation, Ketotic hypoglycemia, Anorexia... |
ORPHA:361 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Ulnar deviation of finger, Tricuspid ... |
ORPHA:1101 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Small for gestational age, Oral-pharyngeal dysphagia, F... |
ORPHA:506358 |
Immunodeficiency 13 |
|
Nasal polyposis, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis ... |
OMIM:615518 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal insufficiency, Pancytopenia, Renal hypoplasia, Umbilical hernia, Renal... |
ORPHA:85321 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia,... |
OMIM:268300 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Gastroesophageal reflux |
OMIM:618158 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Gastroesophageal reflux, Sparse medial eyebrow, Genu varum, Microretrognat... |
OMIM:616268 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Sandal gap, Pectus... |
OMIM:270450 |
Coffin-Siris Syndrome |
|
Joint laxity, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney,... |
ORPHA:1465 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Megaloblastic anemia, Hemolytic-ure... |
ORPHA:79282 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Short thorax, Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydac... |
ORPHA:3218 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short stature, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Orofaciodigital Syndrome V |
|
Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Hamartoma of tongue, Postaxial hand pol... |
OMIM:174300 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Recurrent infections, Oligosacchariduria, Recurrent gastroenteritis |
ORPHA:309288 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Overlapping toe, Hip dislocation, Clinodactyly of the... |
OMIM:613884 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Arachnodactyly, Sandal g... |
OMIM:617602 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Vomiting, Gastroesophageal reflux, High palate, Hepatic steatosis, Short stature, Portal hyperten... |
OMIM:613658 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Clinodactyly, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:293939 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Micropenis, Decreased testicular size |
OMIM:610628 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Recurrent enterovir... |
ORPHA:79124 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... |
OMIM:615503 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Hepatic steatos... |
OMIM:212138 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Aplastic cl... |
ORPHA:50945 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Feeding difficulties |
OMIM:616095 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Polyhydramnios, Preaxi... |
OMIM:616546 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hypoglycemia, Pyloric stenosis, Chronic diarrhea, Intrauterine growth... |
OMIM:616355 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Failure to thrive, Neonatal hyp... |
OMIM:619046 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Tracheomalacia, Cardiomegaly, Patent ductus arteriosus, Partial anomal... |
ORPHA:95430 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... |
ORPHA:411703 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal platelet morphology |
ORPHA:2978 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardial effusion,... |
OMIM:139210 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Polydactyly, S... |
ORPHA:313781 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Ventricular septal defect, Subvalvula... |
OMIM:613001 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Hirsutism, Abdominal pain |
ORPHA:314478 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Ventricular septal defect, Overlapping toe, Hiatus hernia, Cerebral hemorrhage, Pate... |
OMIM:616682 |
White-Sutton Syndrome |
|
Duplicated collecting system, Joint laxity, Congenital diaphragmatic hernia, Patent ductus arteri... |
OMIM:616364 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Small for gestational age, Hypoglycemia, Tapered finger, Micrognathia, Feeding difficu... |
OMIM:614501 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sit... |
ORPHA:1908 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Gastroesophageal reflux, Vesicoureteral reflux, Broad hallux, Hypospadias, Short stature, Pilomat... |
ORPHA:353281 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Tr... |
ORPHA:39812 |
Shox-Related Short Stature |
|
Short stature, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum,... |
ORPHA:314795 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Joint hypermobility, Craniosynostosis, Pectus excavatum, Patent ductus... |
OMIM:617506 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Wide anterior fontanel, Long fi... |
OMIM:617746 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Mandibular prognathia, Recurrent aspiration pneumonia |
OMIM:619971 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Dermatoglyphic ridges ab... |
ORPHA:99413 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventouse delivery, Gastroesophageal reflux, Decreased body weight, Caesarian section, Amelogenesi... |
OMIM:619229 |
Mend Syndrome |
|
Microretrognathia, Overlapping toe, Broad hallux, Short stature, Micrognathia, Long fingers, 2-3 ... |
OMIM:300960 |
Mosaic Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Dermatoglyphic ridges ab... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Dermatoglyphic ridges ab... |
ORPHA:99226 |
Turner Syndrome |
|
Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Dermatoglyphic ridges ab... |
ORPHA:881 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fe... |
OMIM:617049 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumon... |
ORPHA:781 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Neu-Laxova Syndrome 1 |
|
Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger syndactyly, Spina bifida, ... |
OMIM:256520 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Hypoglycemia, Feeding difficulties, Aminoaciduria, Neonatal death, Int... |
OMIM:619055 |
Wiedemann-Steiner Syndrome |
|
Synophrys, Gastroesophageal reflux, High palate, Clinodactyly of the 5th finger, Dilatation of re... |
ORPHA:319182 |
Desmosterolosis |
|
Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Metatarsus adductus, Sp... |
ORPHA:35107 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Broad nasal tip, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridg... |
OMIM:620157 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, T... |
ORPHA:134 |
Hereditary Hyperekplexia |
|
Joint stiffness, Hiatus hernia, Hip dislocation, Hernia, Umbilical hernia |
ORPHA:3197 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec... |
OMIM:219800 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... |
ORPHA:411696 |
Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... |
ORPHA:1198 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Hypospadias, Broad hallux, Congenital diaphragmatic hernia, Congeni... |
OMIM:304110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:300534 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Inguinal hernia, Redundant umbilical skin, Patent ductus arteriosus, Aortic rupture, ... |
OMIM:614557 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Recurrent myoglobinu... |
OMIM:620300 |
Spondylo-Ocular Syndrome |
|
Thoracic kyphosis, Ventricular septal defect, Osteoporosis, Joint hyperflexibility |
ORPHA:85194 |
Oeis Complex |
|
Duplicated collecting system, 11 pairs of ribs, Congenital hip dislocation, Hydroureter, Renal ag... |
OMIM:258040 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Flexion contracture, Epiphyseal stippling, Abnormal p... |
OMIM:222765 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, A... |
ORPHA:96097 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi... |
OMIM:616005 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... |
OMIM:140000 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl... |
OMIM:209950 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio... |
OMIM:618619 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Chronic infec... |
ORPHA:2357 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Recurrent bacterial infections, Inflammation o... |
OMIM:615895 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Feeding difficulties |
OMIM:618241 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi... |
OMIM:616038 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Retroperitoneal fibrosis, Weig... |
ORPHA:35687 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Bicuspid aortic valve, Elbow con... |
OMIM:617137 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Pancytopenia, Thickened ribs, Crani... |
ORPHA:309282 |
Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation |
ORPHA:95720 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, Micrognathia, Low anterior ... |
ORPHA:404440 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the u... |
ORPHA:52 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Recurrent bacterial... |
OMIM:618048 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly |
OMIM:612913 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... |
ORPHA:1780 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Hamartoma of tongue, Micrognathia, Cleft pa... |
OMIM:258860 |
Toriello-Carey Syndrome |
|
Wide anterior fontanel, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal ... |
ORPHA:3338 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Renal tubular acidosis, Pat... |
OMIM:613457 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern... |
OMIM:263750 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Obesity, Polycystic ovaries, Overgrowth, Recurrent otitis media, Malar fla... |
OMIM:616831 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Cellulitis, Tetralogy of Fallot |
OMIM:153400 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Atelectasis, Dyspnea, E... |
ORPHA:538 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Hypoglycemia, Eosinophilia, Anorexia, ... |
ORPHA:199299 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis, Pectus excavatum, Cl... |
OMIM:618027 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodactyly ... |
ORPHA:709 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, T... |
OMIM:620005 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Micrognathia, Recurrent bacterial infections, Micropenis, Convex nasal ridge |
OMIM:241410 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Abnormalit... |
ORPHA:744 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Skin rash, Recurrent viral infections, Lymphadenitis, Hepatosplenomegaly, Recurrent... |
ORPHA:331206 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Eczema, Prominent nose, Carious teeth, Bulbous nose, Obesity, Organic aci... |
OMIM:620191 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Feeding difficulties in infancy, Obesity, Hypopi... |
ORPHA:411515 |
Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Broad hallux, Abnormal heart morphology, Clinodactyly of the 5th finger, Umbilic... |
OMIM:617062 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va... |
OMIM:250420 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Elevated hepatic transamina... |
ORPHA:20 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, P... |
ORPHA:667 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hypospadias, Missing ribs, Patent ductus arteriosus,... |
OMIM:206900 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Ectopic ki... |
OMIM:227645 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Vomiting |
OMIM:616483 |
Warsaw Breakage Syndrome |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:613398 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Nasogastric tube feeding in infancy, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft... |
ORPHA:268261 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul... |
OMIM:612387 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Osteomyeliti... |
OMIM:306400 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Pericarditis, Proteinuria, Rocker bottom foot, Congenital diaphragmatic hernia, ... |
ORPHA:1272 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Persistence of primary teeth, Asthma, Recurrent upper respiratory trac... |
OMIM:619752 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... |
OMIM:300998 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Urinary incontinence, Cholecystitis |
ORPHA:309256 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Coxa valga, Hypoplastic iliac wing, Long fingers, Patent ductus arterio... |
OMIM:617561 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemi... |
ORPHA:159 |
Gonadoblastoma |
|
Abdominal distention, Hirsutism, Abdominal pain |
ORPHA:206484 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias, Craniosynostosis, Sa... |
ORPHA:254346 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Exercise-induced myoglobinuria |
OMIM:300559 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Increase... |
OMIM:600649 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... |
OMIM:610682 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, High palate, Short stature, Tapered finger, Cyst of the ductus choled... |
ORPHA:480880 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Ventricular septal defect |
ORPHA:398156 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Death in infancy, Bilateral fetal pyelectasis, Lar... |
OMIM:300868 |
X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Patent ductus arteriosus, Small hand, Short foot, Aminoaciduria, Abnormal cardia... |
ORPHA:85276 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Lujan-Fryns Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Disproportionate tall stature, High palate, Macroorchidism |
ORPHA:776 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge |
OMIM:618302 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Vasculitis... |
ORPHA:2331 |
Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia |
OMIM:300068 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Abdominal distention, ... |
OMIM:620233 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Short stature, Hypoglycemia, Delayed puberty, Failure to thrive |
ORPHA:95496 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate, ... |
ORPHA:177907 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Pectus excavatum of inferior ... |
OMIM:163950 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Ascending aorta hypoplasia... |
OMIM:619503 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Ovarian Fibroma |
|
Mesenteric cyst, Peritonitis, Abdominal distention, Abdominal pain |
ORPHA:314473 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Met... |
OMIM:271640 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypoxemia, Recurrent ba... |
OMIM:603903 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology |
ORPHA:95716 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the... |
ORPHA:1556 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thi... |
OMIM:620076 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Failure to thrive, Pancreatitis |
ORPHA:431361 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Joint lax... |
ORPHA:821 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short femur, Joint hypermobility, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Ell... |
OMIM:300990 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615981 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic... |
ORPHA:66634 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Decreased fetal movement, Short stature, ... |
ORPHA:398069 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Flattened epiphysis, Genu valgum, Polydact... |
OMIM:607131 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... |
ORPHA:141127 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Ureterocele, Broad finger, Short finger, Umbilical hernia, Micropenis,... |
ORPHA:1934 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect |
ORPHA:261190 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Death in infancy, Syndactyly, Bicuspid... |
OMIM:612289 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal... |
ORPHA:2273 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Patent ductus arteriosus after birth at term, Clinodactyly of the 2nd f... |
ORPHA:251061 |
Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... |
ORPHA:1772 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... |
ORPHA:98905 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Frequent Giardia lamblia infestation, Hypoglycemia, Alopecia totalis, Pyloric sten... |
OMIM:615577 |
Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Scapular winging, Pectus excavatum, Wide... |
OMIM:278250 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Pulmonary hypoplasia, Micrognathia |
OMIM:601809 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Ventricular septal defect, Broad femoral neck, Bowing of the legs, Coxa valga, Meta... |
OMIM:617164 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Overlapping toe, Joint hypermobility, Tapered finger, Pectus excavatum, ... |
OMIM:618371 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Dental malo... |
ORPHA:1855 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow |
OMIM:620047 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Nasogastric tube feeding in infancy, Fetal pyelectasis, C... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Nasogastric tube feeding in infancy, Fetal pyelectasis, C... |
ORPHA:363958 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Sheehan Syndrome |
|
Hypoglycemia, Poor appetite, Sparse axillary hair, Sparse pubic hair, Obesity, Breast hypoplasia,... |
ORPHA:91355 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Nephroblastoma, Short thumb, Ventricular septal defect |
OMIM:610832 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, High palate, Decreased testicular size |
ORPHA:85279 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Flexion contr... |
OMIM:617452 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorch... |
OMIM:613803 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Ventricular septal defect, Overlapping toe, Pectus excavatum, Splenomegaly, Patent ... |
OMIM:618268 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Fetal polyuria, Renal agenesis, Tracheoesophageal fistula, Cleft palate,... |
ORPHA:1848 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Nephrotic syndrome, Keratoconjunc... |
ORPHA:238468 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Reactive hypoglycemia, Diarrhea, Obesity, Hypoinsulinemia |
OMIM:600955 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Abnormal circulating enzyme concentration or activity, Glutaric aciduria, Chro... |
ORPHA:25 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... |
ORPHA:70578 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodacty... |
ORPHA:447980 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Hypoplastic toenails, ... |
OMIM:619522 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Short distal phalanx of finger |
ORPHA:85202 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Slender build |
OMIM:608154 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Single transverse palmar crease, Dilatation of renal calices, Synophrys, Obesity, ... |
ORPHA:466950 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Polydac... |
OMIM:619869 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Wide anterior fontanel, Short toe, Atrophic scars, Umb... |
OMIM:225410 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Abdominal pain, Alb... |
OMIM:203300 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Short stature, Hypoglycemia, Cachexia, Abnormal large intestine morphology,... |
ORPHA:109 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig... |
ORPHA:2363 |
King-Denborough Syndrome |
|
Thoracic kyphosis, Ventricular septal defect, Joint hypermobility |
OMIM:619542 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ventricular septal defect, Congenital dia... |
OMIM:611812 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... |
ORPHA:411709 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Achilles tendon contracture, Patent ductus arteriosus, Knee flexion contracture, Bilateral coxa v... |
OMIM:618076 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Partial duplication of thumb phalanx, Micropenis, Partial duplication of the phala... |
OMIM:616331 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Lacticaciduria, Neonatal death, Aspiration pneumonia, Left ventricular h... |
OMIM:619167 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Recurrent infections, ... |
OMIM:158350 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Urinary incontinence, Cholecystitis |
ORPHA:309263 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Carious teeth, Splenomegaly, Recurrent pneumonia, Wide nasal bridge, Hepatosplenome... |
OMIM:608233 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Episodic vomiting, Lac... |
OMIM:615751 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Palmoplantar hyperkeratosis, Glucose intolerance, High palate, Macrovesicular hepat... |
OMIM:619127 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Patent ductus arteriosus, Hypoplasia of the radius, ... |
OMIM:617247 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Thor... |
OMIM:230600 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Micrognathia, High palate, Hyperglycemia, Hepatomegaly, Alopecia, Hypoplasia of teeth, Short clav... |
OMIM:248370 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Micrognathia, Fetal akinesia sequence, High, narrow palate, High palate, Wrist fl... |
OMIM:208150 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo... |
OMIM:614609 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Cardiomegaly |
ORPHA:88643 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Ob... |
ORPHA:2180 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Obesity, Coronary arte... |
ORPHA:66529 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb,... |
ORPHA:124 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect... |
ORPHA:261330 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent p... |
OMIM:242700 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity, Pectus excavatum,... |
ORPHA:60030 |
Charge Syndrome |
|
Polyhydramnios, Feeding difficulties in infancy, Abnormal tibia morphology, Gastroesophageal refl... |
ORPHA:138 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the ga... |
ORPHA:309271 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Abnormal lymph node morphology, Weight ... |
ORPHA:677 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight |
ORPHA:93945 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia, Thrombocytopenia, Feeding difficulties |
OMIM:617710 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Limitation of joint mobility, C... |
ORPHA:3255 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy, Hypoglycemia |
ORPHA:95428 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-... |
OMIM:619471 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Abnormality of skin pigmentation, Vomiting, Hypoglycemia |
OMIM:240200 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Joint laxity, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bif... |
OMIM:613776 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Prominent metopic ridge, Hypoglyc... |
OMIM:608688 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Feeding difficulties in infancy, Gastroin... |
ORPHA:480864 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Ventricular septal defect, Limb joint co... |
ORPHA:505237 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Albinism, Large for gestational age, Total... |
OMIM:600501 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Genital ulcers, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Otitis ... |
OMIM:602450 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Patent ductus arteriosus, Abnormal heart morphology, Midc... |
ORPHA:79076 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Feeding difficulties, Anemia, Gastroesophageal reflux, Protu... |
OMIM:230900 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Tapered finger, Narrow palm, Cleft palate, Feeding difficulties, Growth delay... |
OMIM:616973 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Obesity,... |
OMIM:103580 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Vomiting, Sparse hair, Nausea, Hepatomegaly, Short stature, Anemia, Ma... |
OMIM:222700 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Weakness of long finger extensor muscles, Polycystic kidney dysplas... |
ORPHA:35125 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Abnormal renal morphology, Polydactyly, Obesity |
OMIM:616562 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Short thumb, Short toe... |
OMIM:164280 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal ... |
OMIM:308205 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Joint hyperflexibility, Vesicour... |
ORPHA:1571 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Down-sloping shoulders, D... |
ORPHA:1724 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:2554 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Overweight, Cheilitis, Uveitis, Obesity, Sepsis, Arthritis, Palmopl... |
ORPHA:247353 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypospadias, Hypoglycemia, Feedi... |
OMIM:252010 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Premature birth, Postnatal growth retardation, Preaxial hand po... |
ORPHA:96179 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Premature birth, Polyhydramnios, Abdominal distention, Secretory diarrhea, Elevated stool chlorid... |
OMIM:214700 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe... |
ORPHA:31204 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Atopic dermatitis, Obesity, Chronic otitis medi... |
ORPHA:412035 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Hip dysplasia, Vesicoureteral ... |
ORPHA:494344 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hypoglycemia, Renal salt wasting |
OMIM:614736 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Ventricular septal defect |
OMIM:617635 |
Gapo Syndrome |
|
Prominent scalp veins, Retinal arteriolar tortuosity, Wide anterior fontanel, Bell-shaped thorax,... |
OMIM:230740 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Umbilical hernia, Wide anterior fontanel |
ORPHA:95715 |
Luo-Schoch-Yamamoto Syndrome |
|
Short foot, Umbilical hernia, Small hand |
OMIM:619460 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Renal cyst, Polycystic ovaries, Cleft palate, Vomiting, Failure to th... |
ORPHA:137675 |
Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Craniosynostosis, Patent ductus a... |
OMIM:617140 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hyperp... |
OMIM:601803 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Abdominal obesity, Increased body weight |
OMIM:615954 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Failure to thrive, Renal salt wasting, Female external genitalia in individ... |
ORPHA:168558 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Joint hypermobility, Cardiomegaly |
OMIM:618798 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Gastroi... |
ORPHA:900 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral... |
ORPHA:261337 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Inguinal hernia, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Broad hallux, Inguinal hernia, Ventricular septal defect |
ORPHA:276432 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Recurrent urinary tract infections, Toe syndactyly, Bilateral camptodactyly, Umbili... |
OMIM:619234 |
Leptin Receptor Deficiency |
|
Recurrent upper respiratory tract infections, Hypergonadotropic hypogonadism, Obesity |
OMIM:614963 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, High, narrow palate, Weight loss, Restrictive v... |
ORPHA:98897 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Congenital diaphragmatic hernia, P... |
OMIM:616777 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Coarctation of aorta,... |
ORPHA:268249 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Wide penis, Vesicoureteral reflux, Sparse hair, Dilatation of renal calices, Hepatic s... |
ORPHA:3455 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch |
OMIM:616920 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Tracheomalacia, Patent ductus arteriosus, Small hand, Obe... |
ORPHA:444077 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydro... |
OMIM:615109 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Malar flattening, Inflamma... |
ORPHA:93262 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Curly hair, Short stature, Polyhydramnios, Large for gestational age, Spar... |
OMIM:611553 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Failure to thrive, Renal salt wasting, Female external genitalia in individ... |
ORPHA:289548 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Hypoinsulinemia |
ORPHA:453533 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Peripheral arteriovenous fistula, Hypospadias, Cigare... |
ORPHA:286 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Sepsis, Glomerular sclerosis, Nephropathy |
ORPHA:247691 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Feeding difficulties in infancy, Nasogastr... |
ORPHA:565624 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia |
OMIM:274400 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration, Crusting erythematous dermatitis, Stomatitis |
ORPHA:293812 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Partial albinism, Abn... |
ORPHA:79430 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Narrow chest, Triphalangeal thumb, Neutropenia, Atrial septal defect, Spina bi... |
OMIM:105650 |
Thalidomide Embryopathy |
|
Chronic rhinitis |
ORPHA:3312 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Severe varicella zoster infection, Recurrent pne... |
OMIM:618986 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Atrial septal defect, Joint laxity, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm... |
ORPHA:53271 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... |
OMIM:607944 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Polyhydramnios, Large... |
ORPHA:544488 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Hepatomegaly, Epididymitis, Intrarenal ... |
ORPHA:1304 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Hypospadias, Wide nasal bridge |
ORPHA:782 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydro... |
OMIM:615108 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Nephrolithiasis, Increased body weight, Glucose intol... |
ORPHA:189427 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Hypoglycemia, Abnormality of secondary sexual hair, Delayed puberty |
ORPHA:95619 |
Perrault Syndrome 4 |
|
Obesity, Cleft palate, Hypoplasia of the uterus, Disproportionate tall stature, Bicornuate uterus... |
OMIM:615300 |
Legius Syndrome |
|
Inguinal freckling, Short stature, Acute monocytic leukemia, Axillary freckling, Nephrolithiasis,... |
ORPHA:137605 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Fetal distress, Obesity, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Brachydactyly |
OMIM:608624 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Micrognathia, Sparse eyebrow, Synophrys, Low anterior hairline, Renal... |
ORPHA:495875 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Intr... |
ORPHA:470 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Ectopic ... |
ORPHA:233 |
Vici Syndrome |
|
Recurrent respiratory infections, Wide nose, Failure to thrive, Depressed nasal bridge, Recurrent... |
OMIM:242840 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... |
OMIM:157800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Hypertrophic cardiomyopathy... |
OMIM:618775 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... |
ORPHA:26793 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinus calcaneus, Feeding difficulties in infancy, Cholestasis, Pi... |
ORPHA:746 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Arachnodactyly, Neonatal hypoglycemia, Large for gestational age, Sparse e... |
ORPHA:457359 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate... |
OMIM:607872 |
Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Postaxial polydactyly |
OMIM:614500 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Recurrent urinary tract infections, Short stature, Polyhydramnios, Rectal prola... |
OMIM:617157 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, External genital ... |
ORPHA:398079 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Horseshoe kidney, Ves... |
OMIM:619103 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide na... |
OMIM:136760 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Obesity, Micropenis |
OMIM:619326 |
Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Pectus excavatum, General... |
ORPHA:2834 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Nonimmune hydrops fetalis, Premature birth, Intrauterine growth retardation, Anemia |
OMIM:618838 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Hypoglycemia, Feeding difficulties in infancy, Overweight, Delayed proximal f... |
ORPHA:226307 |
Coccidioidomycosis |
|
Respiratory distress, Cough, Morbilliform rash, Abnormality of the male genitalia, Abnormality of... |
ORPHA:228123 |
Tetraamelia Syndrome 2 |
|
Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip |
ORPHA:2776 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Endometrial carcinoma, Pneumonia, Male pseudohermaphroditism, Macroorchidism, Ab... |
ORPHA:90790 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hematuri... |
OMIM:158310 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Depressed nasal bridge, Wide nasal bridge |
ORPHA:261295 |
Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Nau... |
ORPHA:99826 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Obesity, Camptodactyly o... |
ORPHA:251038 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Pyloric stenosis, Chronic diarrhe... |
ORPHA:457279 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short stature, Tapered finger, Multiple joint dislocation, Hip dislocatio... |
OMIM:618395 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate |
ORPHA:90653 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Myelofibrosis, Inguinal hernia, Joint laxity, Ventricular septal de... |
OMIM:607721 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymphatic vesse... |
ORPHA:2330 |
Desmosterolosis |
|
Generalized osteosclerosis, Patent ductus arteriosus, Total anomalous pulmonary venous return, Ar... |
OMIM:602398 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
3Mc Syndrome |
|
Diastasis recti, Craniosynostosis, Hip dislocation, Limited pronation/supination of forearm, Radi... |
ORPHA:293843 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Hypoplasia of the maxilla, Wide nasal bridge, Restrictive ventilator... |
OMIM:218000 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Umbilical hernia, Joint hyperflexibility, Genu valgum |
ORPHA:1778 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyop... |
OMIM:300967 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:1112 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Ov... |
ORPHA:69663 |
Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia, Hip dislocation |
OMIM:149400 |
Infantile Systemic Hyalinosis |
|
Malabsorption, Polycystic ovaries, Recurrent bacterial infections, Steatorrhea, Failure to thrive |
ORPHA:2176 |
Thyroid Ectopia |
|
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilica... |
ORPHA:95712 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Umbilical hernia, Diastasis recti, Joint hypermobility |
OMIM:616579 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Low urinar... |
OMIM:612462 |
Wagro Syndrome |
|
Mandibular prognathia, Proteinuria, Micrognathia, Hypoplastic female external genitalia, Obesity,... |
OMIM:612469 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Gastrointestinal strom... |
ORPHA:1572 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Diarrhea, ... |
OMIM:619313 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
X-Linked Acrogigantism |
|
Increased body mass index, Abdominal distention, Fasting hyperinsulinemia, Large hands, Delayed p... |
ORPHA:300373 |
Listeriosis |
|
Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis,... |
ORPHA:533 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... |
ORPHA:33001 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis, Intracranial hemorrhage |
ORPHA:369929 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Sinusitis, Short stature, Renal hypoplasia/aplasia, Micrognathia, Abnormal ti... |
ORPHA:363700 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Decreased fetal movement, Urinary incontinence, Polyhydr... |
ORPHA:169189 |
Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia... |
OMIM:616433 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... |
ORPHA:3440 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale, Joint stiffness |
OMIM:614961 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Dysphagia, Feeding difficulties, Growth delay, 3-Methylglutaric aciduria, 3-Methylgluta... |
OMIM:617248 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Wide na... |
ORPHA:314679 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Iron deficiency anemia... |
ORPHA:309031 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Decreased fetal movement, Short stature, Feeding difficulties in infancy, Overweight, Chronic dia... |
ORPHA:500055 |
Gaisböck Syndrome |
|
Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin ... |
ORPHA:90041 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia |
ORPHA:1867 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Ventricular septal defect, Spatulate thumbs, Tr... |
OMIM:150250 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:180229 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Ulnar deviat... |
ORPHA:3071 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... |
ORPHA:37553 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Ren... |
OMIM:601390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Ketonuria, Hypospadias, Small for gestational age, Highly arched eyeb... |
OMIM:220111 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Eisenmenger Syndrome |
|
Brain abscess, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing... |
ORPHA:97214 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge |
OMIM:156510 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospadias, Toe syndac... |
ORPHA:217346 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Xerostomia, Cough, Bronchiectasis, Bronchiolitis obliterans, Esophageal ulceration, Ab... |
ORPHA:99921 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Femoral bowing, Anteriorly placed anus, Micropenis, Caesarian section, Arachnodactyly, Hypospadia... |
OMIM:201750 |
Glucocorticoid Deficiency 1 |
|
Tall stature, Generalized hyperpigmentation, Recurrent hypoglycemia, Failure to thrive, Hyperpigm... |
OMIM:202200 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, High palate, Nocturia, Brachydactyly |
OMIM:223360 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Joint hyperflexibil... |
ORPHA:3047 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Femoral herni... |
ORPHA:3107 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmot... |
ORPHA:2152 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Short stature, Abnormal thumb morpho... |
ORPHA:2719 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Poor suck, Feeding d... |
ORPHA:411511 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Depressed nasal brid... |
OMIM:101800 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Inguinal hernia, Hypospadias |
ORPHA:2505 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneovalgus deformit... |
ORPHA:261537 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyperpigmentation of the skin, Neonatal hypoglycemia, Renal salt wasting, Hirsutism,... |
ORPHA:90791 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency, Cleft palate... |
OMIM:129400 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Bowel inco... |
ORPHA:573278 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Splenomegaly, Leukocytosis, Ventricular septal defect |
OMIM:615673 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... |
OMIM:610505 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Oral-pharyngeal dysphagia, Myoglobinuria |
OMIM:616878 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Renal hyp... |
ORPHA:3186 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Anuria, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pancreatitis... |
ORPHA:544482 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Depressed nasal bridge, Broad nasal tip, Micrognathia, Hypoplas... |
OMIM:212720 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion... |
OMIM:615546 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Prominent fingertip pads, Inguinal hernia, Broad hallux phalanx, Sandal gap, Craniosy... |
ORPHA:363611 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Cohen Syndrome |
|
Small for gestational age, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Macro... |
OMIM:216550 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Mic... |
ORPHA:3472 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Hyperconvex nail, Large for gestational age, Dental mal... |
ORPHA:2563 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Anteverted nares, Depressed nasal bridge, Micrognat... |
ORPHA:314655 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h... |
OMIM:193300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:364 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Short stature, Hypoglycemia, Chronic pancr... |
OMIM:307030 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... |
ORPHA:73263 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Pulmonic stenosis, Cl... |
OMIM:620185 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Inguinal hernia, Broad hallux phalanx, Ventricular septal defect, Camptodactyl... |
ORPHA:251014 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... |
ORPHA:805 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury |
ORPHA:330021 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finge... |
ORPHA:79445 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of the skin, Hypopigmentation of hair, Mandibu... |
ORPHA:98794 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Micropenis,... |
OMIM:613805 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Emphysema, Failure to thrive |
OMIM:613804 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Nephrolithiasis, Obesity, Glucose intolerance, Abdominal obesity, Hir... |
OMIM:219090 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary inter... |
ORPHA:97287 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Baller-Gerold Syndrome |
|
Abnormality of the kidney, Micrognathia, Cleft palate, Perineal fistula, Anteriorly placed anus, ... |
OMIM:218600 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Clinodactyly of the 5th finger... |
OMIM:614114 |
Icf Syndrome |
|
Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Short stature, Maternal diabetes, Esophageal atresia, Obesity, Tracheoesopha... |
ORPHA:3157 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctati... |
OMIM:619480 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Joint laxity, Ventricular septal defect, Slender build, Patent ductus arteriosus, ... |
ORPHA:466791 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Eosinophilia, Oste... |
ORPHA:464 |
Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia |
ORPHA:199302 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Small hand, Obesity, Ventricular septal hypertrophy |
OMIM:614947 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Ventricular septal defect, Broad hallux, Slender finger, Generalized joint laxity, Sm... |
ORPHA:251028 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Obesity, Hypoplasia... |
ORPHA:66628 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Aplasia of the righ... |
OMIM:619841 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Broad hallux, Epispadias, Postaxial hand poly... |
OMIM:615948 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnormal... |
ORPHA:457284 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Lacticaciduria, Growth delay, Vomiting, Hyperglycemia, Fail... |
ORPHA:3008 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Abnormality of the spleen, Patent ductus arteriosus, Deviation of ... |
ORPHA:1305 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,... |
OMIM:212066 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Conjunctivitis, Convex nas... |
ORPHA:207 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Inguinal hernia, Short metacarpal, Sandal gap, Broad 2nd toe, Long finge... |
OMIM:601358 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Hypo... |
ORPHA:950 |
Ververi-Brady Syndrome |
|
Clinodactyly of the 5th finger, Transposition of the great arteries, Metaphyseal irregularity |
OMIM:617982 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Cleft soft palate, Intestinal malrotation, Leukocytosis, Renal hypoplasi... |
OMIM:619321 |
Keutel Syndrome |
|
Ventricular septal defect, Miscarriage, Short hallux, Premature fusion of phalangeal epiphyses, C... |
OMIM:245150 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneovalgus deformit... |
ORPHA:261552 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Venous insufficiency, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdom... |
ORPHA:285 |
Cystic Fibrosis |
|
Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:219700 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancreatic hypoplasia, O... |
OMIM:609069 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Single transverse palmar crease, Gastrointestinal dysmotility, Synophrys, Obesity, Dysphagia, Fee... |
ORPHA:466943 |
Holoprosencephaly 3 |
|
Malar flattening, Bifid uvula, Hydronephrosis, Cleft palate |
OMIM:142945 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Obesity, Hypoplasia... |
ORPHA:179494 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis... |
OMIM:600802 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Recurrent bacterial infections, Calvarial osteosclerosis |
OMIM:244460 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Shortening of all distal phalanges of the fingers, Mit... |
OMIM:616202 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Spina bifida occulta, Ir... |
OMIM:267750 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... |
ORPHA:861 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Cardiac rhabdomyoma, Clinodactyly of the 5th finger, Umbilical h... |
OMIM:618971 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, Depressed nasal ridge, Recurrent bacterial inf... |
OMIM:248500 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Vomiting, Failure to thrive, Hypoketotic hy... |
OMIM:610768 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Abdominal pain, Increased body weight, Weigh... |
ORPHA:1501 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, ... |
ORPHA:811 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Neurogenic bladder, Ventricular septal defect, Diastasis recti, Pect... |
ORPHA:488632 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomia, Tubulointerstiti... |
ORPHA:289390 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Inguinal hernia, Adducted thumb, Megaloblastic anemia |
ORPHA:79351 |
Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Umbilical hernia, Micropenis |
OMIM:300519 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Elevated hemoglobin A1c, Hypoglycemia, Postnatal growth retardation, Type I diabet... |
OMIM:616113 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis,... |
OMIM:164210 |
Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections |
ORPHA:182 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic... |
OMIM:619525 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge |
ORPHA:2662 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, Pectus excavatum, 3-4 fin... |
OMIM:612530 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Eczema, Cough, Coccidioidomycos... |
OMIM:614162 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Mandibular prognathia, Sandal gap, Long fingers, Cutaneous syndactyly, Bi... |
OMIM:620330 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Camptodactyly, Atrial septal defect, Clinodactyly, Spina bifida occult... |
OMIM:617360 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Arachnodactyly, Slender build |
OMIM:617600 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla, Pneumothorax... |
OMIM:617402 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
9P13 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Joint stiffness |
ORPHA:324313 |
Crouzon Syndrome |
|
Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, High palate, Conjunctivitis, Dysgerm... |
OMIM:123500 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Supernumerary nipple, Aganglio... |
OMIM:235730 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Diarrhea, Hep... |
ORPHA:90062 |
Bohring-Opitz Syndrome |
|
Syndactyly, Ventricular septal defect, Overlapping toe, Tapered finger, Short toe, Flexion contra... |
OMIM:605039 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
17Q24.2 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Upper limb undergrowth, Truncal obesity, Pulmonic s... |
ORPHA:529962 |
Myhre Syndrome |
|
Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Hypospadias, Externa... |
ORPHA:2588 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Melanocytic nevus, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gast... |
OMIM:619381 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Ureteral stenosis, Thoracolumbar kyphoscoliosis, Craniosynostos... |
ORPHA:1299 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tape... |
OMIM:613458 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulti... |
ORPHA:98795 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Long nose, Underdeveloped nasal alae, Hypoplasia of the ... |
OMIM:257850 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy |
OMIM:253700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of... |
OMIM:253800 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Retrognathia, Bifid uvula |
ORPHA:2736 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Epiphyseal stippling, Type I... |
OMIM:274300 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:1540 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Skin rash, Epistaxis, Recu... |
ORPHA:167 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Abnormality of the kidney, Patent ductus arteriosus, Patellar aplasia, Patellar hypoplasia, Fixed... |
ORPHA:495818 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Spina bifida, Palmar pits, Hamar... |
OMIM:109400 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Hypospa... |
OMIM:166250 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... |
OMIM:610536 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Craniosynostosis |
ORPHA:1555 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Horizontal ribs, Abdominal distention, ... |
ORPHA:3003 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Polyhydramnios, Feeding difficulties in infancy, High, narrow palate... |
OMIM:613406 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Hypogonadotropic hypogonadis... |
ORPHA:90794 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ductus arter... |
OMIM:613355 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Atrial s... |
ORPHA:261236 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Overlapping toe, Scarring, Microcytic anemia, L... |
ORPHA:99843 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Ventricular septal defect, Obesity, Tapered finger |
OMIM:619312 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Chorde... |
OMIM:309801 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Esophageal Atresia |
|
Omphalocele, Ventricular septal defect, Renal agenesis, Laryngotracheomalacia, Coarctation of aor... |
ORPHA:1199 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:224690 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased fetal movement, Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Small for g... |
ORPHA:98754 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Ventricular septal defect, Deviation of the hallux, Epispadias, Postaxial hand poly... |
ORPHA:434179 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop... |
OMIM:615846 |
Lymphatic Malformation 7 |
|
Abdominal distention, Increased nuchal translucency, Nonimmune hydrops fetalis, Anemia |
OMIM:617300 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Pectus excavatum, Tetra... |
OMIM:309500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract ... |
OMIM:615952 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Aarskog-Scott Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Cleft palate, Shawl scrotum,... |
OMIM:305400 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Cleft... |
OMIM:119500 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Inflammatory abnormality of the skin, Recurrent herpes, Eczema,... |
ORPHA:391487 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Elliso... |
OMIM:131100 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology |
ORPHA:90673 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Micropenis,... |
OMIM:615287 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Inguinal hernia, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Abnormal carpal morphology, Madelung deformity, Obesity, Bilateral breast hypoplas... |
ORPHA:319675 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hirsutism |
OMIM:615962 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased fetal movement, Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Small for g... |
ORPHA:98793 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Inguinal hernia, Toe syndactyly, Ventricular septal defect, Hypospadias, Ta... |
ORPHA:459070 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Kallmann Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Renal agenesis, Cryptorchidism, Obesity, Clef... |
ORPHA:478 |
Aromatase Deficiency |
|
Eunuchoid habitus, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Insulin resistan... |
ORPHA:91 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Esophageal atresia, Renal hypoplasia, Tracheoesophageal ... |
OMIM:614083 |
Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Red hair, Disproportionate tall stature, Palmoplantar cutis laxa, Den... |
OMIM:229200 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased fetal movement, Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Small for g... |
ORPHA:177904 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Hypogonadism |
ORPHA:178303 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Thrombocytopenia, High palate, Dysphagia, ... |
ORPHA:572798 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased fetal movement, Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Small for g... |
ORPHA:177901 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Missing ribs, Pectus excavatum, Flexion contracture, Clin... |
OMIM:147791 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Macroglossia |
OMIM:105830 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Ab... |
ORPHA:892 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Villous atrophy, Recurr... |
OMIM:619573 |
Hennekam-Beemer Syndrome |
|
Wide nose, Pneumonia, Micrognathia, Long nose, Wide nasal bridge, Respiratory insufficiency, Fail... |
ORPHA:2135 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Abdom... |
ORPHA:163746 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad femoral neck, Broad ischia, Diaphyseal dy... |
OMIM:619727 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Hip dysplasia, In... |
ORPHA:261250 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hypoglycemic seizures, Obesity, Cholestasis |
OMIM:609734 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
ORPHA:79113 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... |
ORPHA:560 |
Pseudohypoparathyroidism Type 1C |
|
Abdominal symptom, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Short sta... |
ORPHA:79444 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Interstitial pneumonitis, Sepsis |
ORPHA:231154 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Abnormal st... |
ORPHA:42775 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Short stature, Postaxial polydactyly |
OMIM:615849 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormal fin... |
ORPHA:2036 |
Acth Deficiency, Isolated |
|
Jaundice, Fasting hypoglycemia, Cholestasis |
OMIM:201400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Arachnodactyly, Transient ischemic attack, Bilateral renal dysplasia... |
ORPHA:500150 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Short s... |
ORPHA:739 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Failure to thrive, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytope... |
ORPHA:293978 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Overweight, Renal tubular acidos... |
OMIM:619575 |
Septooptic Dysplasia |
|
Short stature, Polydactyly, Short finger |
OMIM:182230 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Ventricular septal defect, Recurrent fractures, Metaphyseal wide... |
OMIM:259770 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Conical incisor, Molluscum cont... |
OMIM:300291 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Bulbous nose, Failure to thrive, Anteverted nares |
ORPHA:481152 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Anteverted nares, Pneumonia, Depressed nasal bridge, Dyspnea, Bulbous nose, Wide na... |
OMIM:617809 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Renal steatosis, Obesity, Gout, Hepatic stea... |
ORPHA:412 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Hypospadias, Megacystis, Vesicoureteral reflux, Abnormal cardiac septu... |
ORPHA:209905 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia, Decreased testicular size |
ORPHA:3044 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Renal insufficiency, Recurrent systemic pyogenic infections, Splenomegaly, Hepatiti... |
ORPHA:171 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Anal stenosis, Delayed eruption of teeth, Hypospadias, Bila... |
OMIM:211380 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Curly eyelashes, Micrognathia, Low anterior hairline, Cleft palate, Feeding diffic... |
OMIM:301022 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology |
ORPHA:90674 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyl... |
OMIM:609460 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Recurrent lowe... |
OMIM:231070 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Aspiration pneumonia, Short nose, Fa... |
OMIM:616430 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Cle... |
OMIM:170390 |
Meier-Gorlin Syndrome 6 |
|
Sandal gap, Patellar aplasia, Hip dysplasia, Short middle phalanx of finger, Umbilical hernia, Tr... |
OMIM:616835 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Deafness-Craniofacial Syndrome |
|
Patent ductus arteriosus |
ORPHA:3241 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Preaxial polydactyly, Obesity, Feeding difficulties |
ORPHA:163681 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Clin... |
OMIM:619539 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplasia of... |
OMIM:263650 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Metatarsus adductus, Coarctation of aorta,... |
OMIM:244450 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Obesity, Enuresis, Macroglossia, Co... |
ORPHA:369950 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiectasis, Hypercalciuria, Abnormal pulm... |
OMIM:181000 |
Aspartylglucosaminuria |
|
Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Splenomega... |
ORPHA:93 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Short stature, Hypoglycemia, Neonatal hypoglycemia, Feeding difficulties |
OMIM:613986 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Short stature, Down-sloping shoulders, Mic... |
ORPHA:1974 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Short middle phalanx ... |
OMIM:301030 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Hepatosplenomegaly, Urinary glycosaminoglycan excretion,... |
ORPHA:79255 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Hyperpigmentation of the skin |
OMIM:607398 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Recurrent respiratory infections, Micrognathia, Bilater... |
OMIM:150230 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Hypospadias, Highly arche... |
ORPHA:75857 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Abnormal nasal morphology, Hypoplasia of ... |
ORPHA:1798 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Decreased body weight, Retrognathia, Aplas... |
OMIM:616462 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Wide nose, Recurrent upper respiratory tract infections, Depressed nas... |
ORPHA:2399 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Nablus Mask-Like Facial Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Micropeni... |
OMIM:608156 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Sparse eyelashes, Postaxial polydactyly, Craniosynostosis, Sparse eyebrow, Postnat... |
OMIM:605627 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Micrognathia, Vomiting, Gastroesophageal reflux, High palate, Vesicoureteral reflux, Micropenis, ... |
OMIM:309580 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Intrarenal ab... |
ORPHA:68 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana... |
OMIM:101600 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Abnormality of the kidney, Transient ischemic attack, Stroke... |
ORPHA:167635 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Increased body weight, Hirsutism |
OMIM:615830 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Growth delay, Macroglossia, Constipation, ... |
OMIM:218700 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Umbilical hernia |
ORPHA:920 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... |
ORPHA:391665 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Frontal balding, Hypoglycemia, Hirsutism |
ORPHA:786 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Urinary incontinence, Patent ductus arteriosus, 2-3 toe syndactyly, Joint contractu... |
OMIM:619934 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula... |
ORPHA:2879 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares |
ORPHA:228396 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph... |
ORPHA:284339 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Ho... |
ORPHA:1106 |
Coffin-Lowry Syndrome |
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Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Depressed nasal bridge, Antevert... |
ORPHA:192 |
Mohr Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Cleft palate, Tongue nodules, Lobulated tongue, High pal... |
OMIM:252100 |
Pituitary Hormone Deficiency, Combined, 2 |
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Neonatal hypoglycemia, Short stature, Hypoglycemic seizures |
OMIM:262600 |
Congenital Ptosis |
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Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven... |
ORPHA:99646 |
Faciocardiomelic Syndrome |
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Large for gestational age, Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hyp... |
OMIM:612731 |
Alzahrani-Kuwahara Syndrome |
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Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi... |
OMIM:619268 |
Premature Aging Syndrome, Penttinen Type |
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Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... |
OMIM:601812 |
Pituitary Apoplexy |
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Nausea and vomiting, Normochromic anemia, Hypoglycemia |
ORPHA:95613 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Flexion contracture, Ventricular septal defect, Limited hip extension, Corneal scarring |
OMIM:614653 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... |
OMIM:301044 |
Van Den Ende-Gupta Syndrome |
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Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Hypoplasia of the maxilla, Dilat... |
OMIM:600920 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Agenesis of incisor, Den... |
OMIM:610829 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Anorexia, Ne... |
ORPHA:99889 |
Wilms Tumor 1 |
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Nephroblastoma |
OMIM:194070 |
Genetic Transient Congenital Hypothyroidism |
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Umbilical hernia |
ORPHA:226316 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Recurrent respiratory infections, Small scrotum, External genital hypoplasia, Cryptorchidism, Obe... |
OMIM:614231 |
Immunodeficiency 47 |
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Hepatomegaly, Splenomegaly, Recurrent infections, Recurrent bacterial infections, Failure to thrive |
OMIM:300972 |
Choanal Atresia |
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Chronic sinusitis, Polydactyly, Craniosynostosis, Feeding difficulties |
ORPHA:137914 |
Neuroleptic Malignant Syndrome |
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Proteinuria, Urinary incontinence, Pulmonary embolism, Sepsis, Aspiration pneumonia, Myoglobinuri... |
ORPHA:94093 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:209885 |
Brittle Cornea Syndrome |
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Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Cleft palate, Hip dysplasia, Abn... |
ORPHA:90354 |
Congenital Fiber-Type Disproportion Myopathy |
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Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus... |
ORPHA:2020 |
Infantile Neuroaxonal Dystrophy |
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Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Stickler Syndrome |
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Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Cachexia, Micrognathi... |
ORPHA:828 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... |
OMIM:619482 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mohr-Tranebjaerg Syndrome |
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Aspiration pneumonia |
ORPHA:52368 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Pituitary dwarfism, Hypoglycemia, Growth delay, Polydactyly, Constipation, Abnormality of seconda... |
ORPHA:95494 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia |
ORPHA:99027 |
Cushing Disease |
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Increased urinary cortisol level, Sparse scalp hair, Diabetes mellitus, Hyperpigmentation of the ... |
ORPHA:96253 |
Temtamy Preaxial Brachydactyly Syndrome |
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Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia |
ORPHA:363417 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed eruption of teeth, Recurrent respiratory infections, Natal tooth, Hypospadias, Pneumonia,... |
OMIM:264090 |
Proximal Spinal Muscular Atrophy |
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Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Craniofacial-Deafness-Hand Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Short metatarsal, Absent hallux, Micropenis, Decreased skull ossifica... |
OMIM:216340 |
Alström Syndrome |
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Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Hepatic... |
ORPHA:64 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Truncal obesity, As... |
OMIM:301072 |
Orofaciodigital Syndrome Ix |
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Bifid nasal tip, Recurrent aspiration pneumonia, Broad nasal tip |
OMIM:258865 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Cerebral Visual Impairment |
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Premature birth, Neonatal hypoglycemia |
ORPHA:447788 |
Menke-Hennekam Syndrome 1 |
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Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Flexion contracture, Cutaneous syndac... |
OMIM:618332 |
Cleidocranial Dysplasia 2 |
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Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth |
OMIM:620099 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Waardenburg Syndrome, Type 1 |
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Mandibular prognathia, Aplasia of the vagina |
OMIM:193500 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Rib segmentation abnormalities, Vertebral fusion, Ventricular septal defect, Hy... |
OMIM:194190 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Limb-Mammary Syndrome |
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Psoriasiform dermatitis, Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Apla... |
ORPHA:69085 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated hepatic transaminase, Short stature, Celiac disease, Gastrointestinal dysmotility, Obesi... |
ORPHA:293987 |
Pmm2-Cdg |
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Mandibular prognathia, Elevated hepatic transaminase, Proteinuria, Long fingers, Insulin resistan... |
ORPHA:79318 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Patent ductus arteriosus, Micropenis, Hypospadias |
ORPHA:2282 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
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Preaxial polydactyly |
ORPHA:2921 |
Carney Complex |
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Ovarian dermoid cyst, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Lower-lim... |
ORPHA:513456 |
Frontorhiny |
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Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate |
ORPHA:391474 |
X-Linked Dystonia-Parkinsonism |
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Aspiration pneumonia |
ORPHA:53351 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Chronic kidney disease, Recurrent Staphylococcus aureus infections, Sep... |
ORPHA:642 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, Narrow palate |
ORPHA:794 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect, Abnormal dental ena... |
ORPHA:1071 |
Non-Acquired Panhypopituitarism |
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Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Constipation, Abnormality of secon... |
ORPHA:90695 |
Lissencephaly Due To Lis1 Mutation |
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Aspiration pneumonia |
ORPHA:95232 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... |
OMIM:608670 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Tapere... |
OMIM:303600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Narrow nasal bridge, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Bulbous ... |
OMIM:259600 |
Holoprosencephaly 1 |
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Micropenis, Short stature, Hypoglycemia, Median cleft lip and palate |
OMIM:236100 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Joint laxity, Osteomyelitis, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Overw... |
OMIM:619475 |
Plague |
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Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... |
ORPHA:707 |
Tay-Sachs Disease |
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Precocious puberty, Aspiration pneumonia |
ORPHA:845 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Carious teeth, Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
Knobloch Syndrome 2 |
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Encephalocele, Enamel hypoplasia, Patent ductus arteriosus |
OMIM:618458 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla, Anal stenosis, Hypospadias, Anal atresia |
OMIM:180500 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, High palate, Bifid uterus |
ORPHA:1521 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypoplasia of th... |
ORPHA:306542 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia of the m... |
OMIM:182250 |
Semilobar Holoprosencephaly |
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Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t... |
ORPHA:93924 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Hypoplasia o... |
OMIM:614188 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat... |
OMIM:157170 |
Nephroblastoma |
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Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma |
ORPHA:654 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepatosplenomega... |
ORPHA:646 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Primrose Syndrome |
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Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxil... |
OMIM:259050 |
Norrie Disease |
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Cachexia, Cryptorchidism, Uterine rupture, Malar flattening, Failure to thrive |
ORPHA:649 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla |
OMIM:300106 |