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Gene: Gpc3 MGI:104903

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

glypican 3

Synonyms:

OCI-5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gpc3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gpc3 (4 diseases)
Human diseases predicted to be associated with Gpc3 (2709 diseases)

The table below shows human diseases associated to Gpc3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Pol...	ORPHA:373
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Narrow greater sciatic notch, Shor...	OMIM:312870
Wilms Tumor 1	Nephroblastoma	OMIM:194070
Nephroblastoma	Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma	ORPHA:654

The table below shows human diseases predicted to be associated to Gpc3 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Polyhydramnios, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, H...	OMIM:269860
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist...	ORPHA:75233
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of...	ORPHA:2311
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Horizontal ribs, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation o...	OMIM:614857
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia, Premature birth, Feeding difficulties in infancy, Cleft ...	ORPHA:231147
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio...	OMIM:614868
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil...	OMIM:244400
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
X-Linked Dominant Chondrodysplasia Punctata	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	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	Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal...	OMIM:618950
Familial Visceral Myopathy	Hydroureter, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon, Micrognathia, Abdomi...	ORPHA:2604
Congenital Disorder Of Glycosylation, Type Iil	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	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Cutaneous fi...	OMIM:235510
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Multicystic kidney dysplasia, Abnorma...	ORPHA:2092
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	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	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	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	Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M...	ORPHA:83471
Short Stature-Wormian Bones-Dextrocardia Syndrome	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	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Vacterl/Vater Association	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	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Zellweger Syndrome	Thickened nuchal skin fold, Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hyposp...	ORPHA:912
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Obesity, Nephrocalcinosis, Short long bone, Horizontal rib...	OMIM:615633
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomal...	OMIM:617478
Tetraamelia Syndrome 1	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	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Hepatic fibrosis, Vomiting, Fasting hypoglycemia, Hepatic steatosis, Nause...	ORPHA:264580
Tatton-Brown-Rahman Syndrome	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	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	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Depressed nasal bridge, Antevert...	ORPHA:192
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Tongue nodules, Lobulated tongue, High pal...	OMIM:252100
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Short stature, Hypoglycemic seizures	OMIM:262600
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven...	ORPHA:99646
Faciocardiomelic Syndrome	Large for gestational age, Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hyp...	OMIM:612731
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi...	OMIM:619268
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Pituitary Apoplexy	Nausea and vomiting, Normochromic anemia, Hypoglycemia	ORPHA:95613
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, Ventricular septal defect, Limited hip extension, Corneal scarring	OMIM:614653
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe...	OMIM:301044
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Hypoplasia of the maxilla, Dilat...	OMIM:600920
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Agenesis of incisor, Den...	OMIM:610829
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Anorexia, Ne...	ORPHA:99889
Wilms Tumor 1	Nephroblastoma	OMIM:194070
Genetic Transient Congenital Hypothyroidism	Umbilical hernia	ORPHA:226316
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Small scrotum, External genital hypoplasia, Cryptorchidism, Obe...	OMIM:614231
Immunodeficiency 47	Hepatomegaly, Splenomegaly, Recurrent infections, Recurrent bacterial infections, Failure to thrive	OMIM:300972
Choanal Atresia	Chronic sinusitis, Polydactyly, Craniosynostosis, Feeding difficulties	ORPHA:137914
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Pulmonary embolism, Sepsis, Aspiration pneumonia, Myoglobinuri...	ORPHA:94093
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Cleft palate, Hip dysplasia, Abn...	ORPHA:90354
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus...	ORPHA:2020
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Stickler Syndrome	Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Cachexia, Micrognathi...	ORPHA:828
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Hypoglycemia, Growth delay, Polydactyly, Constipation, Abnormality of seconda...	ORPHA:95494
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia	ORPHA:99027
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Diabetes mellitus, Hyperpigmentation of the ...	ORPHA:96253
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia	ORPHA:363417
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Natal tooth, Hypospadias, Pneumonia,...	OMIM:264090
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Yunis-Varon Syndrome	Congenital hip dislocation, Short metatarsal, Absent hallux, Micropenis, Decreased skull ossifica...	OMIM:216340
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Hepatic...	ORPHA:64
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Truncal obesity, As...	OMIM:301072
Orofaciodigital Syndrome Ix	Bifid nasal tip, Recurrent aspiration pneumonia, Broad nasal tip	OMIM:258865
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Cerebral Visual Impairment	Premature birth, Neonatal hypoglycemia	ORPHA:447788
Menke-Hennekam Syndrome 1	Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Flexion contracture, Cutaneous syndac...	OMIM:618332
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Waardenburg Syndrome, Type 1	Mandibular prognathia, Aplasia of the vagina	OMIM:193500
Wolf-Hirschhorn Syndrome	Accessory spleen, Rib segmentation abnormalities, Vertebral fusion, Ventricular septal defect, Hy...	OMIM:194190
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Limb-Mammary Syndrome	Psoriasiform dermatitis, Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Apla...	ORPHA:69085
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Short stature, Celiac disease, Gastrointestinal dysmotility, Obesi...	ORPHA:293987
Pmm2-Cdg	Mandibular prognathia, Elevated hepatic transaminase, Proteinuria, Long fingers, Insulin resistan...	ORPHA:79318
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Patent ductus arteriosus, Micropenis, Hypospadias	ORPHA:2282
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Precoc...	ORPHA:1359
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Lower-lim...	ORPHA:513456
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate	ORPHA:391474
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Chronic kidney disease, Recurrent Staphylococcus aureus infections, Sep...	ORPHA:642
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, Narrow palate	ORPHA:794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect, Abnormal dental ena...	ORPHA:1071
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Constipation, Abnormality of secon...	ORPHA:90695
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper...	OMIM:608670
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Tapere...	OMIM:303600
Multicentric Osteolysis, Nodulosis, And Arthropathy	Narrow nasal bridge, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Bulbous ...	OMIM:259600
Holoprosencephaly 1	Micropenis, Short stature, Hypoglycemia, Median cleft lip and palate	OMIM:236100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Osteomyelitis, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Overw...	OMIM:619475
Plague	Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Tay-Sachs Disease	Precocious puberty, Aspiration pneumonia	ORPHA:845
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis	OMIM:127550
Knobloch Syndrome 2	Encephalocele, Enamel hypoplasia, Patent ductus arteriosus	OMIM:618458
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Anal stenosis, Hypospadias, Anal atresia	OMIM:180500
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Bifid uterus	ORPHA:1521
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypoplasia of th...	ORPHA:306542
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia of the m...	OMIM:182250
Semilobar Holoprosencephaly	Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Proboscis, Depressed nasal ridge, Single naris, Aspiration pneumonia, Failure to t...	ORPHA:93924
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Hypoplasia o...	OMIM:614188
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat...	OMIM:157170
Nephroblastoma	Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma	ORPHA:654
Niemann-Pick Disease Type C	Hepatomegaly, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepatosplenomega...	ORPHA:646
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Primrose Syndrome	Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxil...	OMIM:259050
Norrie Disease	Cachexia, Cryptorchidism, Uterine rupture, Malar flattening, Failure to thrive	ORPHA:649
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gpc3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gpc3.

No publications found that use IMPC mice or data for Gpc3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gpc3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gpc3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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