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Gene: Rit1 MGI:108053

Gene Summary

Name:

Ras-like without CAAX 1

Synonyms:

Rit

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean platelet volume	Rit1^em1(IMPC)Mbp	HOM	Early adult	2.35×10^-11
anophthalmia	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased red blood cell distribution width	Rit1^em1(IMPC)Mbp	HOM	Early adult	8.09×10^-05
enlarged kidney	Rit1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Rit1^em1(IMPC)Mbp	HOM	Early adult	3.75×10^-05
increased circulating alkaline phosphatase level	Rit1^em1(IMPC)Mbp	HOM	Early adult	1.40×10^-09

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Rit1 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 Rit1 (2 diseases)
Human diseases predicted to be associated with Rit1 (1064 diseases)

The table below shows human diseases associated to Rit1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Noonan Syndrome 8		Atrial septal defect, Ventricular septal defect, Short stature, Polyhydramnios, Large for gestati...	OMIM:615355
Noonan Syndrome		Thickened nuchal skin fold, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve...	ORPHA:648

The table below shows human diseases predicted to be associated to Rit1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro...	ORPHA:295
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Infantile Sialic Acid Storage Disease	Hepatomegaly, Anteverted nares, Premature birth, Cardiomegaly, Conjugated hyperbilirubinemia, Spl...	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Mulibrey Nanism	Hepatomegaly, Frontal bossing, Wide nose, Depressed nasal bridge, Short stature, Cardiomegaly, Co...	OMIM:253250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Abnormality of the kidney, Giant platelets, Macrothrombocytopenia, Ne...	OMIM:155100
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Telangiectasia, Ab...	ORPHA:101028
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Depressed nasal bridge, Short st...	ORPHA:79076
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki...	OMIM:615631
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	ORPHA:60041
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Hematochezia, Anemia, Decreased body weight, Abnormality of body h...	ORPHA:209964
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti...	OMIM:608540
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis, Fetal pericardial eff...	OMIM:619462
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, F...	ORPHA:85212
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Microcytic anemia, Abnormality of the menstrual...	ORPHA:90308
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f...	ORPHA:163596
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ...	ORPHA:1041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ...	OMIM:617021
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce...	OMIM:210250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili...	OMIM:300908
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Glycogen Storage Disease Iv	Decreased fetal movement, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophage...	OMIM:232500
Indomethacin Embryofetopathy	Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect...	ORPHA:1909
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi...	OMIM:619433
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Protein-losing...	OMIM:235510
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperalaninemia, Nonimmune hydrops fetalis, Hyperprolinemia, Cardiomyopathy, Neonatal death, Pulm...	OMIM:619003
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Neuraminidase Deficiency	Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Va...	OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Anteverted nares, Cardiomegaly, Polyhydramn...	OMIM:616897
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Hydrops fetalis, A...	ORPHA:45452
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Single umbilical ...	ORPHA:3405
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney	OMIM:613885
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis	ORPHA:2204
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Prematu...	ORPHA:292
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hy...	OMIM:618815
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Gm1-Gangliosidosis, Type I	Hepatomegaly, Frontal bossing, Severe short stature, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col...	OMIM:174900
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequ...	ORPHA:367
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Intestinal perforation, Thrombocytopenia, R...	ORPHA:90038
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Achondrogenesis Type 1B	Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni...	ORPHA:93298
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C...	OMIM:618839
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Achondrogenesis	Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni...	ORPHA:932
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, N...	OMIM:618835
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C...	OMIM:618838
Restrictive Dermopathy 2	Decreased fetal movement, Fetal distress, Rectal prolapse, Gastroesophageal reflux, Intrauterine ...	OMIM:619793
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Premature birth, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, T...	ORPHA:2123
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Sialidosis Type 2	Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites	ORPHA:87876
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Broad nasal ...	OMIM:601927
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Polyhydramnios,...	OMIM:608013
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly...	ORPHA:288
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro...	OMIM:619313
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Sho...	ORPHA:1200
Gm1 Gangliosidosis	Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Short stature, Broad nasal ti...	ORPHA:354
Achondrogenesis Type 1A	Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni...	ORPHA:93299
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Breech presentation, Wide...	OMIM:613177
Cystic Fibrosis	Male infertility, Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Cor pulm...	OMIM:219700
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Premature birth, Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth	OMIM:215045
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,...	OMIM:112200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Small for gestational age, Ventricular septal defect, Craniosynostosis, Elevated ci...	OMIM:301056
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Short stature, Cryptorchidism, Brachycephaly, High palat...	ORPHA:1695
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Neonatal short-limb shor...	OMIM:600972
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Frontal bossing, Depressed nasal bridge, Decreased fetal movemen...	OMIM:608776
17Q21.31 Microduplication Syndrome	Anteverted nares, High palate, Delayed puberty, Short nose, Failure to thrive	ORPHA:217340
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm...	OMIM:175200
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Alg8-Cdg	Abnormality of the gastrointestinal tract, Hyponatremia, Small for gestational age, Premature bir...	ORPHA:79325
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect...	OMIM:620135
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital p...	OMIM:243150
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Short stature, Anteverted nares, Cleft palate	ORPHA:2015
Developmental And Epileptic Encephalopathy 96	Small for gestational age, Hydrops fetalis	OMIM:619340
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Mosaic Trisomy 9	Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,...	ORPHA:99776
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmu...	OMIM:620167
Even-Plus Syndrome	Severe short stature, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, High palate, Atrial ...	OMIM:616854
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu...	OMIM:231100
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Bernard-Soulier Syndrome	Partially duplicated kidney, Giant platelets, Macrothrombocytopenia, Decreased platelet glycoprot...	ORPHA:274
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Achondrogenesis, Type Ii	Frontal bossing, Edema, Polyhydramnios, Disproportionate short-trunk short stature, Brachycephaly...	OMIM:200610
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia	ORPHA:3319
Johanson-Blizzard Syndrome	Short stature, Dextrocardia, Edema, Malabsorption, Underdeveloped nasal alae, Abnormality of the ...	ORPHA:2315
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Abnormal spleen morphology, Vesicoureteral refl...	ORPHA:2470
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom...	OMIM:617303
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Premature birth, Nonimmune hydrops fetalis, Absent ossification of cal...	OMIM:166210
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites	ORPHA:834
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal...	OMIM:617022
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Ring Chromosome 8 Syndrome	Frontal bossing, Short nose, Anteverted nares, Polyhydramnios	ORPHA:1450
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom...	OMIM:616843
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Decrease...	OMIM:618265
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Dubowitz Syndrome	Anal stenosis, Depressed nasal bridge, Short stature, Abnormality of neutrophils, Malabsorption, ...	ORPHA:235
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hydrops fe...	ORPHA:79329
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Short nose, Abnormal cardiac septum morphology, Short stature	ORPHA:2370
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Leprechaunism	Hepatomegaly, Enlarged ovaries, Wide nose, Postnatal growth retardation, Rectal prolapse, Megarec...	ORPHA:508
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Failure to thrive, Pancytopenia, Short stature, Elevated circulating C-reactive ...	OMIM:616050
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Polyhy...	OMIM:617157
Alg9-Cdg	Villous atrophy, Brachycephaly, Hydrops fetalis, Right ventricular dilatation, Gastroesophageal r...	ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Pearson Syndrome	Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steato...	ORPHA:699
Trisomy 1Q	Frontal bossing, Wide nose, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Cr...	ORPHA:261344
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism, Wide n...	ORPHA:401935
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, ...	OMIM:613320
Adenylosuccinate Lyase Deficiency	Short nose, Flat occiput, Anteverted nares, Brachycephaly	ORPHA:46
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Abnormal heart morpholog...	OMIM:239300
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, L...	OMIM:611209
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, High palate, Atrial septal defect, Patent foramen o...	OMIM:613610
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Short stature	ORPHA:1355
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrops fetalis, Cleft palate, Hydrocele testis, Neutropenia, Congenital thromb...	OMIM:616738
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Potocki-Shaffer Syndrome	Prominent nasal bridge, Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Brachyceph...	ORPHA:52022
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki...	OMIM:607330
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr...	OMIM:608836
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Villous atrophy, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic h...	OMIM:212065
Gm1 Gangliosidosis Type 1	Frontal bossing, Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Hepatosplenomegaly, Ma...	ORPHA:79255
Fanconi Anemia, Complementation Group O	Short stature, Cryptorchidism, Rectal atresia, Abnormal heart morphology, Neonatal death, Anal at...	OMIM:613390
Lymphatic Malformation 13	Atrial septal defect, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Fetal perica...	OMIM:620244
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy...	OMIM:616737
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Brachycephaly, Atrial se...	OMIM:265380
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Failure to thrive, Midface retrusion	OMIM:618379
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
3C Syndrome	High, narrow palate, Gastroesophageal reflux, Abnormal tricuspid valve morphology, Atrial septal ...	ORPHA:7
Fetal Trimethadione Syndrome	Ventricular septal defect, Depressed nasal bridge, Brachycephaly, High palate, Transposition of t...	ORPHA:1913
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero...	OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool...	OMIM:619868
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Short stature	OMIM:245570
Trisomy 13	Ventricular septal defect, High, narrow palate, Cryptorchidism, Hydrops fetalis, Cleft palate, At...	ORPHA:3378
Boomerang Dysplasia	Cryptorchidism, Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios	ORPHA:1263
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Obesity	OMIM:300577
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Oligohydramnios...	OMIM:614702
Pierpont Syndrome	Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Brachycephaly, Decreased body weight, ...	OMIM:602342
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Di...	ORPHA:79282
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Adenocarcinoma of...	ORPHA:124
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Achondrogenesis, Type Ia	Turricephaly, Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios,...	OMIM:200600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ...	ORPHA:69735
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
9q subtelomeric deletion syndrome	Anteverted nares, Protruding tongue, Abnormal heart morphology, Short nose, Midface retrusion	DECIPHER:52
Fibrochondrogenesis 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hydrops fetalis, Cleft pal...	OMIM:228520
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Colitis, Hypoalbuminemia	ORPHA:88643
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis...	OMIM:619859
Hennekam Syndrome	Lymphopenia, Depressed nasal bridge, Mild postnatal growth retardation, Craniosynostosis, Malabso...	ORPHA:2136
Acrocephalopolydactyly	Short nose, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Short stature, Atrial septal defect, Pulmonary arterial hypertension, Sh...	OMIM:300887
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Gastroesophageal reflux, Atrial septal defect, Anteverted...	OMIM:194050
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Edema, Thrombocytopenia, Cryptorchidism, Elevated circula...	OMIM:608104
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro...	OMIM:253220
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardiomegaly, Thrombocytopenia, Jaun...	ORPHA:858
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Short stature, Rectal prolapse, Narrow palate, Thick nasal septum, M...	OMIM:303600
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa...	ORPHA:172
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Cryptorchidism, Wide nasal bridge, Cleft palate, Abnormal heart morphology,...	ORPHA:1865
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Bulbous no...	OMIM:613870
Dermotrichic Syndrome	Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Shor...	ORPHA:99688
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Short nose, High palate, Depressed nasal bridge	ORPHA:261120
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
8P23.1 Microdeletion Syndrome	Short stature, Prominent nasal bridge, Cryptorchidism, Obesity, Wide nasal bridge, Weight loss, G...	ORPHA:251071
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Fai...	ORPHA:79312
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Anencephaly 2	Anophthalmia	OMIM:619452
Dehydrated Hereditary Stomatocytosis	Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu...	ORPHA:3202
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse...	OMIM:618774
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, ...	ORPHA:391372
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, B...	ORPHA:369891
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom...	ORPHA:93476
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ...	ORPHA:2133
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol...	OMIM:612563
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Cleft palate, Intrauterine growth r...	ORPHA:2145
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru...	OMIM:232220
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ...	OMIM:269250
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Jaundice, Increased circulating ferritin...	OMIM:603552
Poikiloderma With Neutropenia	Frontal bossing, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Shor...	OMIM:604173
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchid...	OMIM:243310
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Anteverted nares, Ventricular septal defect, Short nose	OMIM:618506
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Short stature, Thrombocytopenia, Recurrent upper...	ORPHA:333
Perlman Syndrome	Hepatomegaly, Anteverted nares, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology...	ORPHA:2849
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Anteverted n...	OMIM:616651
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Frontal bossing, Ventricular septal defect, Small for gestational age, Cran...	OMIM:614114
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Depressed nasal...	OMIM:606003
Potocki-Shaffer Syndrome	Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Sho...	OMIM:601224
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Dysphagia	ORPHA:477774
Lymphangiectasia, Pulmonary, Congenital	Depressed nasal bridge, Mild postnatal growth retardation, Edema, Polyhydramnios, Facial edema, N...	OMIM:265300
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv...	ORPHA:615
Macrocephaly/Autism Syndrome	Hepatomegaly, Frontal bossing, Depressed nasal bridge, Large for gestational age, Splenomegaly, O...	OMIM:605309
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Elevat...	ORPHA:2070
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Clark-Baraitser Syndrome	Anteverted nares, Depressed nasal bridge, Brachycephaly, Obesity, High palate, Dolichocephaly, Sh...	OMIM:617752
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card...	OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Brachycephaly, Mitral valve prolapse, Mitral regurgitation, High palate, Short n...	OMIM:615539
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge...	ORPHA:284169
Campomelia, Cumming Type	Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p...	ORPHA:1318
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Flat occiput, Anteverted nares, Protruding tongue, Cryptorchidism, Obesity,...	ORPHA:96147
Fatty Acyl-Coa Reductase 1 Deficiency	Growth delay, Short nose, Depressed nasal bridge, Short stature	ORPHA:438178
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negat...	ORPHA:3261
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr...	OMIM:614480
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Frontal bossing, Anteverted nares, Rhizomelia, Depressed nasal ridge, Weight loss, ...	ORPHA:1842
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato...	OMIM:618278
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Frontal bossing, Hypoplastic nasal bridge, Ventricular septal d...	OMIM:609942
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, High palate, Hydrops fetalis, Polyhydramnios	OMIM:255320
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip	OMIM:613670
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
16P12.1P12.3 Triplication Syndrome	Tachycardia, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, Abnormal heart morpholo...	ORPHA:485405
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th...	ORPHA:85443
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, High palate, Short nose, Tall stature	ORPHA:217385
Greenberg Dysplasia	Hepatomegaly, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Nonimmune hydrops fetalis, Echo...	OMIM:215140
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Growth delay, Iro...	OMIM:226300
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Large for gestational age, Broad ...	ORPHA:137634
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomyopathy, A...	ORPHA:465508
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ...	ORPHA:2701
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia	ORPHA:85447
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Short stature, Perimembranous ventricular septal defect, High palate, Transposi...	OMIM:617877
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly,...	OMIM:256540
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ...	ORPHA:264580
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagi...	OMIM:618577
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, ...	OMIM:613604
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Ventricular septal defect, Short stature, Cleft palate, Atr...	OMIM:614261
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef...	ORPHA:1832
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis, Anemia	OMIM:617408
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Depressed nasal bridge, Anemia of i...	ORPHA:231214
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmo...	OMIM:619064
Verheij Syndrome	Ventricular septal defect, Small for gestational age, Anteverted nares, Broad nasal tip, Short st...	OMIM:615583
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv...	ORPHA:137667
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Flat occiput, Anteverted nares, Wide nasal bridge, Plagiocepha...	OMIM:619383
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H...	OMIM:232200
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate, Anemia, Delayed puberty	ORPHA:2598
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Lymphoid nodular hyperplasia, Shor...	ORPHA:210548
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Teebi Hypertelorism Syndrome 1	Frontal bossing, Ventricular septal defect, Anteverted nares, Sagittal craniosynostosis, Depresse...	OMIM:145420
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Po...	OMIM:257300
Rhiny	Short nose, Anteverted nares	OMIM:180360
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Polyhydramnios, Hydrops fetalis, Cleft palate, Disproportionate short-lim...	ORPHA:85166
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Con...	OMIM:170100
Yunis-Varon Syndrome	Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, High, narrow palate, Hydrops fe...	ORPHA:3472
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Gastroesophageal reflu...	OMIM:615419
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Rectal fistula, ...	OMIM:115470
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Promi...	OMIM:618316
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia, Hypoplasia of penis, Abnormal circulating creatine kinase concentra...	ORPHA:899
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, ...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentratio...	OMIM:617049
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Short stature, Elevated circulating creatine kinase concentration, Protr...	OMIM:608779
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Prominent nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Long nose, Pulmon...	OMIM:137940
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Anteverted nares, Cryptorchidism, Cleft palate, Dolichocephaly, Short ...	OMIM:617201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramni...	OMIM:300868
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne...	ORPHA:505248
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Baller-Gerold Syndrome	Narrow nasal bridge, Frontal bossing, Failure to thrive in infancy, Prominent nasal bridge, Short...	ORPHA:1225
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Mu...	OMIM:601186
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Growth delay, Gastroesophageal reflux, Intrauterine growth retardation, Short nose	ORPHA:1495
Kaposiform Lymphangiomatosis	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ...	ORPHA:464329
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal...	ORPHA:90362
Glutamine Deficiency, Congenital	Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hyperammonemia, Br...	OMIM:610015
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Plagiocep...	OMIM:614749
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat...	OMIM:211600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Frontal bossing, Anteverted nares, Depressed na...	OMIM:619005
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo...	ORPHA:1248
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias	ORPHA:77298
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Dolicho...	OMIM:614091
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Brachyc...	ORPHA:171839
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Premature birth, Hiatus hernia, Rectal prolapse, Arterial rupture, Mitra...	ORPHA:287
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Micropeni...	ORPHA:168569
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventri...	OMIM:263520
Cystic Fibrosis	Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastro...	ORPHA:586
Peho-Like Syndrome	Short nose, Edema	OMIM:617507
Lowry-Maclean Syndrome	Choanal atresia, Craniosynostosis, Bilateral cryptorchidism, Midgut malrotation, High, narrow pal...	ORPHA:2409
Pseudo-Torch Syndrome 3	Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circul...	OMIM:618886
Autosomal Recessive Omodysplasia	Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Rhizomelia, Short st...	ORPHA:93329
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy...	ORPHA:487796
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Abnormal pericardium morphology, Congestive heart failure,...	ORPHA:67
Chung-Jansen Syndrome	Anteverted nares, Cryptorchidism, Obesity, High palate, Short nose, Meconium stained amniotic fluid	OMIM:617991
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Short stature, Narrow nasal ridge, Prominent nose, Polyhydramnios, Crypto...	ORPHA:363528
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios...	OMIM:235255
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Ventricul...	OMIM:601005
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Hypoplasia of l...	OMIM:153100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congest...	ORPHA:3386
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Large for gestational age, Cardiomegaly, Polyhydramnios, Gastrointe...	ORPHA:363705
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal...	OMIM:616589
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Harel-Yoon Syndrome	Frontal bossing, Hypertrophic cardiomyopathy, Short nose	OMIM:617183
Smith-Magenis Syndrome	Frontal bossing, Decreased fetal movement, Hypertriglyceridemia, Failure to thrive in infancy, An...	ORPHA:819
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Mild short stature, Short nose...	OMIM:614613
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Miller-Dieker Syndrome	Growth delay, Short nose, Anteverted nares, Polyhydramnios	ORPHA:531
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Wide nasal bridge, Trigonocephaly, Short nose, Meckel dive...	OMIM:190440
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Polyhydramn...	ORPHA:1790
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Increased blood urea nitrogen, Anemia	ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr...	ORPHA:79259
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Splenomegaly, Depressed nasal ridge, Ascites, Anemia, Oligohydramnios	ORPHA:1046
Microphthalmia With Linear Skin Defects Syndrome	Midface retrusion, Wide nose, Tricuspid regurgitation, Severe short stature, Dilated cardiomyopat...	ORPHA:2556
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth retardation, Cryptor...	OMIM:613026
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome...	ORPHA:324410
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Hyperammonemia, Dehydration, An...	OMIM:606054
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Obesity, Plagiocephaly, Sho...	OMIM:618430
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Trigonocephaly, Choanal atresia, Short stature, Esop...	OMIM:610536
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Jaundice, Macroglossia,...	OMIM:613038
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter...	OMIM:208540
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Ventricular septal defect, Intestinal malrotation, Narrow nose, Short stature, L...	OMIM:617602
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia	OMIM:603278
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Lymphedema, Splenomegaly, Furrowed t...	ORPHA:2930
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose	OMIM:618437
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Short stature, Prominent nose, Scaphocephaly, Cranial asymmetry, Wide n...	OMIM:614886
Tetrasomy 12P	Frontal bossing, Anteverted nares, Short stature, Cachexia, Abnormal soft palate morphology, Shor...	ORPHA:884
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, ...	OMIM:601853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal...	OMIM:620210
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Short stature, Brachycephaly	ORPHA:1514
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi...	OMIM:214900
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Angina pectoris, Abnormal lar...	ORPHA:109
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Trigonocephaly, Shor...	OMIM:619179
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Primary amenorrhea, Hepatospleno...	OMIM:612526
Distal Duplication 18Q	Thickened nuchal skin fold, Anteverted nares, Choanal atresia, Prominent nasal bridge, Cryptorchi...	ORPHA:1716
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Hyperammonemia, Dehydration, Anemia, Leukopenia, Cardiomyopathy,...	ORPHA:27
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, High palate, Hypoplasia of the th...	OMIM:612541
Chromosome 6Q11-Q14 Deletion Syndrome	Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, High palate, Sh...	OMIM:613544
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, B...	ORPHA:1791
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Frontal bossing, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnorma...	ORPHA:2538
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Steator...	OMIM:612714
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Ste...	ORPHA:75233
Camptodactyly Syndrome, Guadalajara Type 1	Anteverted nares, Depressed nasal bridge, Short stature, Brachycephaly, High palate, Intrauterine...	ORPHA:1327
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Depressed nasal bridge, Short stature, Malabsorption, Protruding tongue, Macrog...	OMIM:242860
Phocomelia, Schinzel Type	High, narrow palate, Cryptorchidism, Disproportionate short stature, Tracheoesophageal fistula, C...	ORPHA:2879
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Acromicric Dysplasia	Bulbous nose, Severe short stature, Anteverted nares, Short nose	ORPHA:969
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Cachexia, Malabsorption, M...	ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Elevated circulating creati...	OMIM:614576
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Polyhydramnios, Wide nasal bridge, High palate, Neutropenia, Atrial septal defect,...	OMIM:618005
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase...	OMIM:610377
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites	ORPHA:584
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic...	ORPHA:1414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Enlarged mesenteric...	OMIM:209950
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
16P11.2P12.2 Microdeletion Syndrome	Frontal bossing, Tricuspid regurgitation, Anteverted nares, Short stature, Long nose, Bulbous nos...	ORPHA:261211
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Frontal bossing, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnio...	OMIM:620369
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Pde4D Haploinsufficiency Syndrome	Frontal bossing, Depressed nasal bridge, Prominent nose, Postnatal growth retardation, Cryptorchi...	ORPHA:439822
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Codas Syndrome	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Short stature, Extrahepatic ...	ORPHA:1458
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios, Broad nasal tip, Postnatal...	ORPHA:1655
Bainbridge-Ropers Syndrome	Polyhydramnios, Gastroesophageal reflux, High palate, Choanal stenosis, Caesarian section, Anteve...	OMIM:615485
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Gastroesophageal reflux	OMIM:618218
Acrodysostosis	Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Irregular menstruation, ...	ORPHA:950
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Hypercalcemia, Craniosynostosis, Postnatal growth retardation, Cryptorchi...	OMIM:614732
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut...	OMIM:609981
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Frontal bossing, Short stature, Bulbous nose, Wide nasal bridge, Cleft palate, Abnormal heart mor...	OMIM:618571
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum	OMIM:302950
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Anemia, Atrial se...	ORPHA:290
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Down Syndrome	Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abn...	ORPHA:870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hepatomegaly, Elevated circulating creatine kinase concentration, Polyhydramnios, High palate, Tr...	ORPHA:329178
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Frontal bossing, Failure to thrive in infancy, Choanal atresia, Porta...	OMIM:613385
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Frontal bossing, Failure to thrive in infancy, Abnorma...	ORPHA:1340
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia	ORPHA:101009
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Short stature, Polyhydramnios, Plagiocephaly, Gastroesophageal reflux, Hi...	OMIM:619833
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Desmosterolosis	Frontal bossing, Severe short stature, Depressed nasal bridge, Intestinal malrotation, Abnormalit...	ORPHA:35107
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology...	ORPHA:397596
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Gastroesophageal reflux, Male in...	ORPHA:85450
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Intestinal malrotation, Short stature, Velopharyngeal insufficiency, Submucous ...	OMIM:614701
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Robinow Syndrome, Autosomal Recessive 2	Frontal bossing, Bicuspid aortic valve, Cleft soft palate, Anteverted nares, Broad nasal tip, Sho...	OMIM:618529
Smith-Kingsmore Syndrome	Frontal bossing, Depressed nasal bridge, Rhizomelia, Large for gestational age, Cryptorchidism, S...	OMIM:616638
C Syndrome	Hepatomegaly, Ventricular septal defect, Anteverted nares, Short stature, Cryptorchidism, Wide na...	OMIM:211750
Spondyloepiphyseal Dysplasia, Nishimura Type	Disproportionate short-limb short stature, Short nose, Midface retrusion	OMIM:618618
Tetrasomy 5P	Anteverted nares, Postnatal growth retardation, Congestive heart failure, Wide nasal bridge, Hear...	ORPHA:3309
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ...	ORPHA:77259
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Amyloidosis, Familial Visceral	Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Short stature, Prominent nasal bridge, High palate, Short nose	OMIM:300558
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Short nose, Polyhydramnios, Duodenal stenosis	ORPHA:2547
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal...	ORPHA:731
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss	ORPHA:42642
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cl...	ORPHA:457279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd...	OMIM:201475
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Prominent nose, Leukopenia, Iron deficiency anemia, Hi...	OMIM:619488
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda...	ORPHA:79083
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Splenomegaly, Cryptorchidi...	OMIM:618440
Fetal Alcohol Syndrome	Anteverted nares, Short stature, Cleft palate, Biparietal narrowing, Atrial septal defect, Intrau...	ORPHA:1915
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal...	OMIM:601847
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A...	ORPHA:160
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Trisomy 12P	Thickened nuchal skin fold, Turricephaly, Short stature, Wide nasal bridge, Cleft palate, Short n...	ORPHA:1699
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ...	ORPHA:3226
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B lymphocytopenia, Lymph...	OMIM:619164
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Rhizomelia, Protruding tongue, Polyhydramnios, Prematur...	ORPHA:50945
Distal Deletion 10Q	Frontal bossing, Short stature, Prominent nasal bridge, Craniosynostosis, Prominent nose, Postnat...	ORPHA:96148
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, Growth de...	OMIM:614069
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Thickened nuchal skin fold, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Gr...	ORPHA:2083
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Premature birth, Cardiomegaly, ...	ORPHA:555874
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Frontal bossing, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Short nose	ORPHA:2143
Miller-Dieker Lissencephaly Syndrome	Frontal bossing, Decreased fetal movement, Anteverted nares, Polyhydramnios, Cryptorchidism, Wide...	OMIM:247200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Genera...	OMIM:267700
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Prominent nos...	OMIM:185070
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Shor...	OMIM:277380
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils...	ORPHA:381
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Mild short stature, Short nose	OMIM:620292
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Edema, Per...	OMIM:619487
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Fg Syndrome 5	Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Kleefstra Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Short stature, Pyloric stenos...	ORPHA:261494
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Acquired Von Willebrand Syndrome	Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Metrorrh...	ORPHA:99147
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Trigonocephaly, Cleft palate, Atrial septal defect, Short nose	ORPHA:79113
Cardiofaciocutaneous Syndrome 1	Anteverted nares, Depressed nasal bridge, Short stature, Premature birth, Polyhydramnios, Splenom...	OMIM:115150
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Short nose, Failu...	ORPHA:544503
Opsismodysplasia	Hepatomegaly, Frontal bossing, Flat occiput, Depressed nasal bridge, Severe short stature, Spleno...	ORPHA:2746
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Premature birth, Elevated circulating C-rea...	ORPHA:90051
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,...	OMIM:619418
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti...	ORPHA:440437
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Abnormal heart valve morpholog...	OMIM:309900
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short stature, Wide nasal bridge, Cleft palate, Coronal craniosynostosis, Short nose	OMIM:614078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Decreased fetal movement, Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, W...	OMIM:614207
Hurler Syndrome	Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Abnormality of the tonsils, Antev...	ORPHA:93473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Anteverted nares, Depressed nasal bridge, Large for gestational age, Brachycephaly, High palate, ...	OMIM:615398
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Ant...	OMIM:616894
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Depressed nasal bridge, High palate, Dysphagia, Short nose, Midface retrusion	OMIM:614744
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Short stature, Prematu...	ORPHA:280200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Short nose, Depressed nasal bridge, Intrauterine growth retardation	OMIM:616910
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Premature birth, Craniosynostosis, Splenomegaly, Jaundice, Con...	ORPHA:525731
Jacobsen Syndrome	Broad columella, Abnormality of the anus, Anteverted nares, Short stature, Premature birth, Crypt...	ORPHA:2308
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Anteverted nares, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Long nose, Gr...	OMIM:615866
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Short nose, Failure to thrive	ORPHA:1895
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Perianal abscess, Lymphadeniti...	OMIM:618935
Kagami-Ogata Syndrome	Hepatomegaly, Frontal bossing, Ventricular septal defect, Anteverted nares, Depressed nasal bridg...	OMIM:608149
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Incre...	ORPHA:905
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age, Short stature	ORPHA:289266
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Hypertrophic cardiomyopathy, Short nose, Delayed puberty	ORPHA:496790
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Dysphagia, Short nose, Meckel diverticulum	ORPHA:163961
Stickler Syndrome Type 1	Short nose, Cleft palate, Mitral valve prolapse	ORPHA:90653
Tetrasomy 18P	Achalasia, Syncope, Short nose	ORPHA:3307
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Protruding tongue, Postnatal...	OMIM:301040
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Au-Kline Syndrome	Gastroesophageal reflux, High palate, Bifid uvula, Sagittal craniosynostosis, Cryptorchidism, Wid...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, ...	OMIM:617061
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Short stature, Cachexia	ORPHA:1389
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Depressed nasal bridge, Proportionate short...	OMIM:613457
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Wide nose, Nonimmune hydrops fetalis, Stillbirth, Ascit...	OMIM:617667
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C...	OMIM:617713
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Frontal bossing, Anteverted nares, Depressed nasal bridge, Sh...	OMIM:607014
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Thrombo...	OMIM:603553
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Cinca Syndrome	Hepatomegaly, Frontal bossing, Premature birth, Abnormality of neutrophils, Elevated circulating ...	ORPHA:1451
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Felty Syndrome	Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Recurrent pharyngitis, Lymphadenopath...	ORPHA:47612
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Craniosynostosis, Prominent nasal bridge, Short stature,...	ORPHA:96097
Mycophenolate Mofetil Embryopathy	Bifid nose, Ventricular septal defect, Tracheoesophageal fistula, Hydrops fetalis	ORPHA:268249
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Elevated circulating creatine kinase concentration	OMIM:615042
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Aganglionic megacolon, Polyhydramnios, Intraventricular hemorrhage...	OMIM:613603
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Small for gestational age, Proportionate short stature, Severe postn...	ORPHA:391408
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Prolonged neonatal j...	OMIM:618828
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Small for gestational age, Premature birth, Polyhydramnios, Fetal akine...	OMIM:208150
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Small for gestational age, Recurrent upper respiratory tract infection...	ORPHA:3078
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Thrombocytopenia, Congestiv...	ORPHA:508542
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Fibular Hemimelia	Anophthalmia, Renal dysplasia, Thrombocytopenia	ORPHA:93323
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Depressed nasal bridge, Malabsorptio...	ORPHA:579
Chops Syndrome	Ventricular septal defect, Anteverted nares, Short stature, Splenomegaly, High, narrow palate, Cr...	OMIM:616368
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Bulbous nose, ...	OMIM:614105
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Brachycephaly, Cleft palate, High pala...	ORPHA:163649
Marshall-Smith Syndrome	Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate, Choanal stenosis, At...	OMIM:602535
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg...	ORPHA:90041
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Transient ischemic attack, Left ventricula...	ORPHA:51608
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Short stature, Intraventricular hemorrhage, Wide nasal ...	OMIM:616430
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Trisomy 18	Ventricular septal defect, Choanal atresia, Cachexia, Short stature, Esophageal atresia, Cryptorc...	ORPHA:3380
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose	ORPHA:1529
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardatio...	OMIM:300863
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly...	ORPHA:329971
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Frontal bossing, Bicuspid aortic valve, Anteverted nares, Depre...	OMIM:613563
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Hydrocele testis...	OMIM:607823
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Plagiocephaly, Pleural eff...	OMIM:617822
Khan-Khan-Katsanis Syndrome	Frontal bossing, Failure to thrive, Tricuspid regurgitation, Short stature, Dysphagia, Neutropeni...	OMIM:618460
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Short nose, Anteverted nares	OMIM:619356
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio...	ORPHA:2729
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen...	OMIM:614921
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Polyhydramnios, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Atria...	OMIM:616546
Odontochondrodysplasia	Frontal bossing, Short nose, Depressed nasal bridge, Short stature	ORPHA:166272
Geleophysic Dysplasia 2	Hepatomegaly, Short stature, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aor...	OMIM:614185
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Intrauterine growth reta...	ORPHA:1914
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge...	OMIM:261750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Decreased fetal movement, Decreased CD4:CD8 ratio, Spl...	OMIM:618495
Fetal Hydantoin Syndrome	Thickened nuchal skin fold, Short stature, Cryptorchidism, Depressed nasal ridge, Cleft palate, I...	ORPHA:1912
Arthrogryposis, Distal, Type 2A	Decreased fetal movement, Small for gestational age, Polyhydramnios, Underdeveloped nasal alae, P...	OMIM:193700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine ki...	ORPHA:79240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Cleft palate, Growth delay, Short nose	OMIM:615716
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Aarskog-Scott Syndrome	Increased upper to lower segment ratio, Anteverted nares, Short stature, Bilateral cryptorchidism...	OMIM:305400
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, Splenomeg...	ORPHA:251066
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Dextrotransposition of the gr...	OMIM:618619
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadenopathy, I...	ORPHA:98849
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration, Decreased serum i...	ORPHA:89842
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda...	ORPHA:2348
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Proportionate short stature, Broad nasal tip, Postnatal growth retarda...	ORPHA:79345
Autosomal Dominant Omodysplasia	Frontal bossing, Depressed nasal bridge, Rhizomelia, Cryptorchidism, Short nose	ORPHA:93328
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Desbuquois Dysplasia 1	Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal ridge, Disprop...	OMIM:251450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
20Q11.2 Microduplication Syndrome	Anteverted nares, Depressed nasal bridge, Palpebral edema, Periorbital edema, Cryptorchidism, Bra...	ORPHA:363659
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dolichocephaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmet...	OMIM:252930
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased heart rate variability...	OMIM:619004
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Intestinal malrotation, Anteverted nares, Depressed nasal bridge, Shor...	OMIM:244450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Frontal bossing, Anal stenosis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Large f...	OMIM:614080
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N...	ORPHA:3260
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Brachycephaly, Anteriorly placed anus, Gastroesophage...	OMIM:612289
Jacobsen Syndrome	Flat occiput, Ventricular septal defect, Anteverted nares, Trigonocephaly, Depressed nasal bridge...	OMIM:147791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, J...	ORPHA:436252
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Al-Raqad Syndrome	Atrial septal defect, Short nose	OMIM:616459
Meier-Gorlin Syndrome 6	Frontal bossing, Severe short stature, Small for gestational age, Anteverted nares, Depressed nas...	OMIM:616835
Trisomy 10P	Absent gallbladder, Frontal bossing, Small for gestational age, Anteverted nares, Depressed nasal...	ORPHA:171929
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension	OMIM:617068
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Esophageal varix, ...	OMIM:616028
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Wide nasal bridge, Obesity, Narrow palate, Gastroesophageal reflux, Overgrowth, ...	OMIM:620250
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Hiatus hernia, Myocardial infarctio...	ORPHA:3342
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Short stature, Broad nasal tip, Subretinal pigment epithelium hemorrhage, Postn...	ORPHA:357074
Pallister-Hall-Like Syndrome	Short stature, Depressed nasal bridge, Cleft palate, Microglossia, Short nose	OMIM:241800
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Flat occiput, Hypogonadotropic hypogonadism, Anteverted nares, Short stature...	ORPHA:177907
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short stature, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossopt...	ORPHA:2031
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Cleft palate, Anteriorly placed anus, C...	OMIM:217980
Desmosterolosis	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Cleft palate, Abnormal c...	OMIM:602398
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen...	ORPHA:781
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An...	OMIM:223350
Lathosterolosis	Hepatomegaly, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Anisopoikilocytosis, Abno...	ORPHA:46059
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Anophthalmia, Renal cyst	OMIM:615636
Majeed Syndrome	Hepatomegaly, Cachexia, Malabsorption, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis,...	ORPHA:77297
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa...	OMIM:615846
Yunis-Varon Syndrome	Flat occiput, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology, High palate, Intraut...	OMIM:216340
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Premature rupture of membranes, Gastroesophageal re...	OMIM:615873
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Mediastinal...	ORPHA:809
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:3412
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Short stature, Edema, Premature birth, Cryptorchidism, H...	ORPHA:97362
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Thick nasal alae, Splenomegaly, Recurrent upper respiratory trac...	ORPHA:583
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Anteverted nares, Cardio...	OMIM:602782
Toriello-Carey Syndrome	Aganglionic megacolon, Short stature, Postnatal growth retardation, Cryptorchidism, Cleft palate,...	ORPHA:3338
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge, High palate, Brachycephaly	OMIM:218000
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Wide nose, Pulmonary edema, Edema, Cardiomegaly, Polyhydramni...	ORPHA:79330
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Asplenia, Apl...	ORPHA:564
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Robinow Syndrome	Frontal bossing, Small for gestational age, Ventricular septal defect, Anteverted nares, Depresse...	ORPHA:97360
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Abnormal...	ORPHA:2162
Peho Syndrome	Short nose, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands	OMIM:260565
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Frontal bossing, Ventricular septal defect, Depressed n...	OMIM:617140
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardatio...	ORPHA:163966
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Patent for...	ORPHA:280633
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis	OMIM:206900
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Achalasia, ...	ORPHA:324
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyngitis, Hepatitis...	ORPHA:549
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Short...	OMIM:249620
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Cranio...	ORPHA:508533
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper...	OMIM:252900
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Failure to thrive, Autoimmune hemolytic anemia, Hypouricemia, Increased circ...	OMIM:613179
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidis...	ORPHA:261236
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Short stature, Polyhydramnios, Large for gestati...	OMIM:615355
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Short stature, Protruding tongue, Brachycephaly, Cleft p...	OMIM:259775
Fanconi Anemia, Complementation Group F	Short stature, Polyhydramnios, Placental abruption, Cryptorchidism, Anemia, Leukopenia, Single um...	OMIM:603467
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Short...	OMIM:222448
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Facial telangiectasia, Short nose, Failure to thrive	OMIM:615851
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Anteverted nares, High palate, Intrauterine growth retardation, Short nose, Fail...	OMIM:219200
Intellectual Developmental Disorder, Autosomal Dominant 1	Frontal bossing, Short stature, Prominent nose, Postnatal growth retardation, Bulbous nose, Depre...	OMIM:156200
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy...	ORPHA:39041
Non-Distal Duplication 13Q	Trigonocephaly, Cryptorchidism, Short nose, High palate	ORPHA:1702
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Wide nasal ...	OMIM:300749
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops f...	OMIM:602522
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Premature birth, Breech presentation, Dysphagia, Volvulus, Short nose	OMIM:617802
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri...	OMIM:301068
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepati...	OMIM:613812
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis, Pulmon...	ORPHA:65286
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Short nose	OMIM:619736
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran...	ORPHA:268
Marshall Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Brachycephaly, Cleft pa...	ORPHA:560
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Craniosynostosis, Cryptorchidism, Abnormal mesentery morphology,...	ORPHA:2953
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc...	OMIM:259720
Hepatoerythropoietic Porphyria	Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin ...	ORPHA:95159
Fibrochondrogenesis 2	Frontal bossing, Short nose, Anteverted nares, Midface retrusion	OMIM:614524
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Short stature, Situs inversus totalis, Brachycephaly, C...	ORPHA:1449
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Choanal atresia, Short stature, Underdeveloped nas...	ORPHA:163979
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Frontal bossing, Wide nose, Flat occiput, Ventricular septal defect, Prominent nasal bridge, Conv...	ORPHA:251028
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Shor...	OMIM:618454
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly...	ORPHA:83
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Short stature, Cryptorchidism, Hydrops fetalis, Cleft palate, High palate	OMIM:265000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atria...	OMIM:619534
19P13.13 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Increased nuchal translucency, Brachycephaly, Functiona...	ORPHA:357001
Atelosteogenesis, Type I	Frontal bossing, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Premature birth, Cryptorchid...	OMIM:108720
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Polyhydramnios, Brachycephaly, Cleft palate, Short nose, Midface retrusion	ORPHA:1394
Trisomy 8P	Anteverted nares, Abnormal atrioventricular connection, Depressed nasal bridge, Cryptorchidism, F...	ORPHA:264450
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Anteverted nares, Short stature, Dolichocephaly	ORPHA:1185
Opsismodysplasia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Rhizomelia, Edema, Polyhydramnios, Dis...	OMIM:258480
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen...	ORPHA:2137
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Renal hypoplasia	ORPHA:264200
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Decreased fertility, Growth delay, Short nose	OMIM:234050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased fetal movement, Wide nose, Anteverted nares, Short stature, Craniosynostosis, Large for...	OMIM:213980
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Growth delay, T lymphocytopenia, Macrovesicular hepatic steatosis, ...	OMIM:616433
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Pfeiffer Syndrome	Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Choanal stenosis, High palate, Coronal...	OMIM:101600
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Palpebral edema, Bulbous nose, Growth delay, Macroglossia, Gastroesophage...	ORPHA:261144
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly...	OMIM:614700
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:158061
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Failure to thrive, Anteverted nares, Short nose	OMIM:616420
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co...	OMIM:618398
Immunodeficiency 22	Failure to thrive, Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, An...	OMIM:615758
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Brachycephaly, Anteriorly placed anus, Gastroesophageal reflux, Choanal sten...	ORPHA:95699
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge, Short stature	ORPHA:2835
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Vasculitis in the skin,...	OMIM:620296
Aymé-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Short stature, Craniosynostosis, Pericardial effusion, Cryp...	ORPHA:1272
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Tricuspid stenosis, Short stature, Congestive heart failure, Aort...	OMIM:231050
Robinow Syndrome, Autosomal Dominant 2	Frontal bossing, Anteverted nares, Cleft soft palate, Depressed nasal bridge, Short stature, Cryp...	OMIM:616331
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Telangiectasia, ...	OMIM:601675
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Cleft palate, Growth delay, Gl...	ORPHA:1358
Orofaciodigital Syndrome Type 4	Decreased testicular size, Wide nose, Severe short stature, Monorchism, Choanal atresia, High, na...	ORPHA:2753
Femoral-Facial Syndrome	Cryptorchidism, Short nose, Short stature, Cleft palate	ORPHA:1988
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Small for gestational age, Failure to thrive in infancy, Cleft soft palate,...	ORPHA:268261
Pterygium Colli, Isolated	Short nose	OMIM:177990
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosis, Premature rupture of me...	OMIM:616723
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Short nose, Midface retrusion, Thin calvarium	ORPHA:1129
Toluene Embryopathy	Cryptorchidism, Short nose, Short stature, Biparietal narrowing	ORPHA:1920
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Short nose, Failure to th...	ORPHA:561
Coffin-Siris Syndrome	Atrial septal defect, Ventricular septal defect, Thick nasal alae, Anteverted nares, Depressed na...	ORPHA:1465
Peho Syndrome	Anteverted nares, Palpebral edema, Pedal edema, Peripheral edema, Biparietal narrowing, Short nos...	ORPHA:2836
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Depressed nasal bridge, Abnormal heart morphology, High palate, Short nose	ORPHA:314655
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Pallister-Hall Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short statu...	OMIM:146510
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Telangiectasia of the skin, Short stature, Underdeveloped nasal alae, Bre...	OMIM:616007
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosis, Disproportionate short-...	ORPHA:457395
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Gastroesophageal reflux	ORPHA:85277
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, ...	OMIM:301030
Acrocallosal Syndrome	Frontal bossing, Abnormal pulmonary valve morphology, Protruding tongue, Postnatal growth retarda...	OMIM:200990
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Dysmenorrhea, Narrow...	ORPHA:280365
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Growth delay, Dolichocep...	ORPHA:2719
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Short stature, Polyhydramnios, Conjugated hyperbilirubinemia, Spl...	OMIM:608885
Intellectual Developmental Disorder, X-Linked 98	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
22Q11.2 Deletion Syndrome	Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the thymus, Hypocalcemi...	ORPHA:567
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Anteverted nares, Craniosynostosis, Broad nasal tip, Fetal distress, C...	ORPHA:363611
Short Fifth Metacarpals-Insulin Resistance Syndrome	Nasal congestion, Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Depressed nasal bridge, Short stature, Caesarian section, ...	OMIM:253200
Osteoglophonic Dysplasia	Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Ch...	OMIM:166250
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Dehydration, He...	ORPHA:275761
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Hepatomegaly, Atrial septal defect, Bundle branch block, Ventricular septa...	ORPHA:373
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Short stature, Thrombocytopenia, Splenomegaly, Increased circulating...	OMIM:222700
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Brachycephaly, High palate, Short nose, Midface retrusion, Bicoronal syno...	ORPHA:93258
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Palpebral e...	ORPHA:50918
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hyperbilirubinemia, Steatorrhea, ...	OMIM:235555
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Pericarditis, Elevated circulating C-reactive protein concentration, Orch...	ORPHA:32960
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia...	ORPHA:167
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Gastroesophageal reflux, Short nose, Failure to thrive, Broad columella	OMIM:617865
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Cachexia, Abnormality...	ORPHA:2072
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short...	ORPHA:93260
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Premature birth, Portal hypertension, B...	ORPHA:567983
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hep...	ORPHA:646
Autosomal Recessive Robinow Syndrome	Frontal bossing, Ventricular septal defect, Abnormal pulmonary valve morphology, Anteverted nares...	ORPHA:1507
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Short stature, Cleft palate, Hypoplastic nasal bone, Mi...	OMIM:154780
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomeg...	OMIM:312870
Warburg Micro Syndrome 3	Postnatal growth retardation, Brachycephaly, Narrow palate, Short nose, Decreased testicular size	OMIM:614222
Micro Syndrome	Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, High palate, Delayed puberty,...	ORPHA:2510
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hiatus hernia, Pancre...	OMIM:610199
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Ventricular septal defect, Abnormality of the nose, Underd...	ORPHA:2710
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th...	ORPHA:2785
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ...	OMIM:616084
Microlissencephaly-Micromelia Syndrome	Palpebral edema, Polyhydramnios, Fetal pyelectasis, Short nose, Failure to thrive	ORPHA:50810
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Gastroe...	OMIM:615803
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Postnatal growth retardation, Arterial rupture, Intrauterine growth retardation...	OMIM:612394
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft palate, Short columella, I...	ORPHA:364577
Ayme-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Short stature, Brachycephaly, Wide nasal bridge, Craniofaci...	OMIM:601088
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Malan Syndrome	Short nose, Overgrowth, Midface retrusion	OMIM:614753
Cornelia De Lange Syndrome	Brachycephaly, High palate, Gastroesophageal reflux, Atrial septal defect, Anteverted nares, Depr...	ORPHA:199
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbuminemia, Hypocalcemia,...	ORPHA:37042
Familial Mediterranean Fever	Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption, Orchitis, Splenomegal...	ORPHA:342
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Prominent nose, Cryptorchidism, Postnatal ...	ORPHA:96191
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose	OMIM:300143
Otopalatodigital Syndrome, Type I	Frontal bossing, Short stature, Wide nasal bridge, Cleft palate, Prominent occiput, Short nose	OMIM:311300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Peters Plus Syndrome	Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Intestinal fistula, Anteverted nares, De...	ORPHA:709
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, High palate, Decreased body weight, Hepatic steatosis...	OMIM:619475
Distal Deletion 9P	High, narrow palate, Wide nasal bridge, Cleft palate, Trigonocephaly, Short nose, Midface retrusion	ORPHA:1642
Stuve-Wiedemann Syndrome 1	Frontal bossing, Anteverted nares, Short stature, Oligohydramnios, Smooth tongue, Dysphagia, Pulm...	OMIM:601559
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of...	ORPHA:171
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia	OMIM:139090
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Eleva...	OMIM:256040
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Wide nose, Depressed nasal bridge, Esophageal atresia, Congenital hepatic fibros...	ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Prominent nose, Brachycephaly, High palate, Hypocalcemia, Subvalvular aortic steno...	OMIM:619503
Adenylosuccinase Deficiency	Growth delay, Short nose, Anteverted nares, Brachycephaly	OMIM:103050
Premature Aging Syndrome, Penttinen Type	Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Convex nasal ridge, Corneal s...	OMIM:601812
Pfeiffer Syndrome Type 2	Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, ...	ORPHA:93259
Trisomy 20P	Frontal bossing, Anteverted nares, Cryptorchidism, Brachycephaly, Plagiocephaly, Ectopic anus, Do...	ORPHA:261318
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
Rothmund-Thomson Syndrome, Type 2	Frontal bossing, Small for gestational age, Depressed nasal bridge, Short stature, Cryptorchidism...	OMIM:268400
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o...	ORPHA:141099
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Anteverted nares, Short stature, Congestive heart failure, Obesity, Ab...	ORPHA:444077
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We...	ORPHA:71493
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Ruvalcaba Syndrome	Cryptorchidism, Delayed puberty, Intrauterine growth retardation, Short nose, Convex nasal ridge	ORPHA:3121
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cleft palate, High palate, Arrh...	OMIM:164200
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Johanson-Blizzard Syndrome	Convex nasal ridge, Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypo...	OMIM:243800
Spondylodysplastic Ehlers-Danlos Syndrome	Frontal bossing, Abnormal heart valve morphology, Anteverted nares, Sagittal craniosynostosis, De...	ORPHA:536471
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Delayed um...	OMIM:608203
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Cachexia, Short stature, Short hard palate, Depressed n...	ORPHA:828
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Depressed nasal bridge, Cleft palate, Glossoptosis, Abnormal car...	ORPHA:90652
Wiedemann-Steiner Syndrome	Short stature, Rhizomelia, Postnatal growth retardation, Wide nasal bridge, Dysphagia, Gastroesop...	ORPHA:319182
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Splenomeg...	ORPHA:163746
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ...	OMIM:219000
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Frontal bossing, Short nose, Severe postnatal growth retardation	OMIM:266810
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Hypoplasia of the t...	OMIM:617666
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect, High palate, Short nose, Failure to thrive	ORPHA:476126
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, ...	OMIM:269150
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Waardenburg Syndrome Type 1	Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Short nose	ORPHA:894
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Postnatal growth ret...	ORPHA:536467
Microphthalmia, Syndromic 1	Aganglionic megacolon, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Pyloric steno...	OMIM:309800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple...	OMIM:602450
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Myocardial infarction, Malabsorp...	ORPHA:117
Multiple Myeloma	Tall stature, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functio...	ORPHA:29073
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Cleft palate, Short nose	ORPHA:1812
Warburg Micro Syndrome 2	Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Short nose	OMIM:614225
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid...	OMIM:601776
Cadds	Cholangitis, Cholestasis, Increased circulating very long-chain fatty acid concentration, Intraut...	ORPHA:369942
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Wide nasal brid...	ORPHA:1519
Dend Syndrome	Short nose, Anteverted nares, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Holoprosencephaly 7	Bilateral cleft palate, Frontal bossing, Flat occiput, Flat nasal alae, Cranial asymmetry, Wide n...	OMIM:610828
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose	OMIM:256600
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Joint hemorrhage, Epistaxis, Cerebral hemorrhage	OMIM:277450
Acrofacial Dysostosis, Catania Type	Short stature, Premature birth, Cryptorchidism, Intrauterine growth retardation, Short nose	ORPHA:1786
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop...	ORPHA:480536
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hypoalbuminemia, Hepatic s...	OMIM:277900
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Short stature, Cryptorchidism, High palate, Hy...	OMIM:300661
Rhombencephalosynapsis	Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Short nos...	ORPHA:59315
Li-Fraumeni Syndrome	Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Neoplasm of the rectum, Ac...	ORPHA:524
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Leukocytosis, Abdom...	OMIM:619321
Charge Syndrome	Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis	ORPHA:138
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Frontal bossing, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Disproportio...	OMIM:271510
Chromosome 16P13.3 Duplication Syndrome	Midface retrusion, Wide nose, Ventricular septal defect, Anteverted nares, Depressed nasal bridge...	OMIM:613458
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Periorbital edema, Thrombocytopenia, Splenomegal...	OMIM:617591
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Short stature, Cryptorchidism, Wide nasal bridge, Submucous ...	ORPHA:2282
Penile Agenesis	Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Fetal pyelecta...	ORPHA:49
Charge Syndrome	Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Hypo...	OMIM:214800
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating...	OMIM:300972
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Right bundle branch block, High palate, Short nose	OMIM:618590
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Mucopolysaccharidosis Type 2, Severe Form	Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, S...	ORPHA:217085
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Aganglionic megacolon, Polyhydramnios, Growth delay, Short nose, Failure to thrive	ORPHA:3339
Carney Complex	Neoplasm of the stomach, Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, N...	ORPHA:1359
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose	ORPHA:1295
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Cardiomegaly, Esophageal atresia, Partial anomalous p...	ORPHA:95430
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios	ORPHA:3016
Gapo Syndrome	Frontal bossing, Hepatomegaly, Anteverted nares, Depressed nasal bridge, High, narrow palate, Pla...	OMIM:230740
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd...	OMIM:305600
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated ...	ORPHA:30391
Cenani-Lenz Syndrome	High, narrow palate, Short nose, Frontal bossing, Convex nasal ridge	ORPHA:3258
Mietens Syndrome	Wide nose, Severe short stature, Wide nasal bridge, Short nose	ORPHA:2557
Omodysplasia 1	Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Cryptorchidism, W...	OMIM:258315
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Lymphadenopath...	ORPHA:667
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypogonadism	ORPHA:2983
Jaberi-Elahi Syndrome	Short nose, Failure to thrive, Depressed nasal bridge	OMIM:617988
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly...	ORPHA:447
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Failure to thrive, Anteverted nares	OMIM:613735
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Hypouricemia, Growth delay, Neonatal death, Short nose	OMIM:252160
Robinow Syndrome, Autosomal Recessive 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Wide na...	OMIM:268310
White-Kernohan Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Anteriorly placed a...	OMIM:619426
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney	OMIM:618280
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Plaa-Associated Neurodevelopmental Disorder	Edema of the dorsum of feet, Edema of the dorsum of hands, High palate, Impaired oropharyngeal sw...	ORPHA:521426
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Hyperlipidemia, Growth delay, High palate, Short nose	OMIM:608612
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Schinzel-Giedion Syndrome	Frontal bossing, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Broad nasal t...	ORPHA:798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Atrial septal defect, Frontal bossing, Failure to thrive in infancy, Depresse...	ORPHA:500150
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Short stature, High, narrow palate, Cryptorchidism, Bulbou...	OMIM:601358
Monosomy 9Q22.3	Large for gestational age, Cardiac fibroma, Trigonocephaly, Short nose, Tall stature	ORPHA:77301
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous ...	OMIM:301044
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Hyperlipidemia, Delayed puberty, Short nose, Convex nasal ridge	ORPHA:90154
Bartsocas-Papas Syndrome	Short nose, Cleft palate, Underdeveloped nasal alae	ORPHA:1234
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Anteverted nares, Prominent nasal bridge, Short stature, Brachycephaly, High pal...	ORPHA:1974
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Cryptorchidism, Brachycephaly, Cleft palate, Growth delay, Short nose	OMIM:601353
C Syndrome	Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Short stature, Polyhydram...	ORPHA:1308
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney	ORPHA:1106
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Atrial septal defect, Prominent nasal tip, Short nose, Brachyturricephaly	ORPHA:522077
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorchidism, Brachyceph...	OMIM:227330
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Depressed nasal bridge, Craniosynostosis, Broad nasal tip, Short statu...	OMIM:309590
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Edema, High palate, Dysphagia, Short nose, Failure to thrive	OMIM:617527
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased fertil...	OMIM:269700
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Mitral valve prolapse, Hematochezia, Hamartomatou...	OMIM:175050
Nablus Mask-Like Facial Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Wide...	OMIM:608156
Robinow Syndrome, Autosomal Dominant 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Rhizomelia, Cryptorchid...	OMIM:180700
Temtamy Preaxial Brachydactyly Syndrome	Growth delay, Short nose, Short stature	ORPHA:363417
Witteveen-Kolk Syndrome	Polyhydramnios, High, narrow palate, Intracranial hemorrhage, High palate, Gastroesophageal reflu...	OMIM:613406
Noonan Syndrome	Thickened nuchal skin fold, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve...	ORPHA:648
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Hypospadias	OMIM:300166
Autosomal Dominant Robinow Syndrome	Frontal bossing, Wide nose, Severe short stature, Anteverted nares, Depressed nasal bridge, Short...	ORPHA:3107
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Ventricular septal defect, Broad nasal tip, Scaphocephaly, Brachycephaly, Wide n...	OMIM:620330
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Brachycephaly, Cleft p...	ORPHA:261112
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Bartsocas-Papas Syndrome 1	Decreased fetal movement, Anal stenosis, Underdeveloped nasal alae, Bilateral cryptorchidism, Cle...	OMIM:263650
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Femoral-Facial Syndrome	Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorchidism, Cleft palate...	OMIM:134780
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Narrow nasal ridge, Hyp...	OMIM:606721
Pallister-Hall Syndrome	Decreased testicular size, Ventricular septal defect, Choanal atresia, Trigonocephaly, Large for ...	ORPHA:672
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Midface retrusi...	OMIM:229400
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Anteverted nares, Short stature, Broad nasal tip, Long nose, Cryptorch...	OMIM:619522
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Renal hypoplasia	OMIM:607932
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th...	ORPHA:447877
Branchiooculofacial Syndrome	Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia	OMIM:113620
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Delayed umbilical cord separation, Leukocy...	OMIM:116920
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Frontal bossing, Short nose, Hypouricemia	OMIM:252150
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Parietal foramina, Cryptorchidism, Wide nasal bridge, High palate, Total anomal...	OMIM:609945
Spondylocarpotarsal Synostosis Syndrome	Frontal bossing, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, C...	OMIM:272460
Malakoplakia	Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Neoplasm of the rectum, Neo...	ORPHA:556
Sponastrime Dysplasia	Frontal bossing, Aplasia of the nasal bone, Wide nose, Small for gestational age, Anteverted nare...	ORPHA:93357
Acromesomelic Dysplasia 1	Frontal bossing, Short nose, Disproportionate short stature	OMIM:602875
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Failure to thrive	OMIM:601495
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Plague	Hepatomegaly, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Enterocolitis, Endoca...	ORPHA:707
Aspartylglucosaminuria	Hepatomegaly, Malabsorption, Splenomegaly, Wide nasal bridge, Macroglossia, Macroorchidism, Short...	ORPHA:93
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Cryptorchidism,...	OMIM:618820
Pallister-Killian Syndrome	Edema of the dorsum of feet, Polyhydramnios, Anteriorly placed anus, Premature rupture of membran...	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux...	OMIM:164210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Depressed nasal bridge, Short stature, Polyhydramnios, Splenomegaly, Aplasia of the...	OMIM:617088
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, D...	ORPHA:454840
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Frontal bossing, Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate,...	OMIM:271665
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose	OMIM:305100
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose	OMIM:614863
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor...	OMIM:618332
Alström Syndrome	Hypoplasia of the Leydig cells, Hepatic fibrosis, Gastroesophageal reflux, Hepatic steatosis, Hep...	ORPHA:64
1P21.3 Microdeletion Syndrome	Short nose, Obesity, Broad nasal tip	ORPHA:293948
Sacral Defect With Anterior Meningocele	Rectal abscess, Hydromyelia	OMIM:600145

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 Rit1

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 Rit1.

No publications found that use IMPC mice or data for Rit1.

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MGI Allele	Allele Type	Produced
Rit1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rit1^{tm88431(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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Gene: Rit1 MGI:108053

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Rit1 mutations

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Access Data Release 20.1 Data