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Gene: Fes MGI:95514

Gene Summary

Name:

feline sarcoma oncogene

Synonyms:

c-fes

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

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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.

Legacy Phenotype Associated Images

Fes^{tm1b(EUCOMM)Hmgu}
abnormal tail tip morphology, tail tip, abnormal tail morphology, WT, Female, WTSI

Fes^{tm1b(EUCOMM)Hmgu}
tail tip, abnormal tail morphology, abnormal tail tip morphology, WT, Female, WTSI

Human diseases caused by Fes 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 Fes (0 diseases)
Human diseases predicted to be associated with Fes (2090 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:616022
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr...	ORPHA:2688
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps...	OMIM:616740
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo...	OMIM:614470
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro...	OMIM:615592
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve...	OMIM:615897
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho...	OMIM:601457
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Immunodeficiency, Common Variable, 2	Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas...	OMIM:240500
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Indomethacin Embryofetopathy	Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect...	ORPHA:1909
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car...	ORPHA:295
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Congenital Heart Block	First degree atrioventricular block, Feeding difficulties in infancy, Atrioventricular block, Hyd...	ORPHA:60041
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, ...	OMIM:603552
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes...	OMIM:614700
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Growth delay,...	ORPHA:169079
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Abnorm...	ORPHA:47
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Mulibrey Nanism	Hepatomegaly, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malocclusion, Myoca...	OMIM:253250
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Meningitis...	ORPHA:3392
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Poor appetite, Abnormal large int...	ORPHA:2198
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor...	OMIM:608540
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno...	OMIM:619924
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Skin ulcer, Decr...	ORPHA:33355
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope...	OMIM:601495
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi...	OMIM:307200
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c...	OMIM:619433
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T...	OMIM:618982
Infantile Sialic Acid Storage Disease	Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrocephalu...	OMIM:269920
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Persistent CMV viremia, Splenomegaly, Recurrent u...	OMIM:616005
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia...	OMIM:618986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ...	OMIM:300755
Immunodeficiency 42	Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recurrent...	OMIM:616622
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, BCGosis, Recurre...	OMIM:619644
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Glycogen Storage Disease Iv	Decreased fetal movement, Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Es...	OMIM:232500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Pallor, Decreased proportion of...	ORPHA:331206
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunodeficiency 102	Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hypothyro...	OMIM:301082
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
Muckle-Wells Syndrome	Short stature, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatit...	OMIM:191900
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:98813
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Intestinal Dysmotility Syndrome	Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Feeding difficulties, Decrea...	OMIM:620045
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff...	OMIM:619462
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi...	OMIM:618815
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Immunodeficiency 19	Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce...	OMIM:615617
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Ethanolaminosis	Cardiomegaly	OMIM:227150
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Co...	ORPHA:90308
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc...	OMIM:602248
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Ventriculomegaly, Downturned corners of mouth, High palate, Gastroesoph...	OMIM:300590
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Mitochondrial Complex I Deficiency, Nuclear Type 35	Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmonary arterial hypertension, Intra...	OMIM:619003
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Feeding difficulties in infancy, Downturned corners of mouth, Thick ve...	OMIM:618974
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Temple-Baraitser Syndrome	Wide mouth, Downturned corners of mouth, Thick vermilion border, Gastroesophageal reflux, Pulmoni...	OMIM:611816
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ...	OMIM:620282
Trehalase Deficiency	Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d...	ORPHA:103909
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Primary Effusion Lymphoma	Pericardial effusion, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Edema, Abdominal distention, Diarrhea, Cholestasis, Perim...	OMIM:608104
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ...	ORPHA:367
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Feeding difficulties in infancy, Hydrops feta...	ORPHA:45452
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 31	Feeding difficulties, Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipi...	OMIM:617228
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrocephalus...	ORPHA:163596
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, H...	OMIM:616897
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,...	ORPHA:1041
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal...	OMIM:620135
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F...	OMIM:603165
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Crypto...	OMIM:612541
Poikiloderma With Neutropenia	Skin rash, Short stature, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Re...	OMIM:604173
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Feeding difficulties, Downturned corne...	OMIM:615009
Familial Hypofibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98881
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Feeding difficulties, Downturned corners of m...	OMIM:613443
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Hypotonia, Infantile, With Psychomotor Retardation	Decreased fetal movement, Ventricular septal defect, Myopathy, Lateral ventricle dilatation, Incr...	OMIM:616816
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirrhosis,...	ORPHA:101028
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:614876
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar...	ORPHA:3405
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia	OMIM:610798
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Short stature, Neutropenia	ORPHA:90023
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Mala...	ORPHA:79301
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Cleft pa...	OMIM:615731
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Premature birth, Prolo...	ORPHA:465
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Scaling skin, H...	OMIM:606367
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Thick lower li...	OMIM:179613
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding difficulties in infancy, Conge...	OMIM:618654
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Downturned corners of mouth, Feeding difficulties in infancy, Intrauterine growth retardation, Ab...	ORPHA:254525
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, S...	OMIM:612840
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa...	ORPHA:443811
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Polyhydramnios	OMIM:616868
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Polyhydramnios, Whistling appearance, Pierre-Robin sequence, Downturned corners of mouth, Thin ve...	ORPHA:1150
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Al Amyloidosis	Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, Hepatomegaly, Abnormal ...	ORPHA:85443
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, At...	OMIM:618652
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Flexion contracture, Abnormal heart morphology, Downturned corners of mouth, Feeding difficulties...	ORPHA:391372
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Thick...	OMIM:618027
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea...	OMIM:255320
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abdominal distention, Portal fibrosis, Hepatic fibro...	ORPHA:369
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Ventricular septal defect, Short philtrum, Cleft palate	ORPHA:94066
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th...	OMIM:617388
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact...	OMIM:613496
Fetal Gaucher Disease	Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Flexion contractur...	ORPHA:85212
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Intrauterine growth retar...	ORPHA:2515
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties	OMIM:620368
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, ...	OMIM:616651
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Agenes...	ORPHA:93267
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri...	ORPHA:292
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Thin upper lip vermilion, Short lingual frenulum, Ventricular septal d...	OMIM:617360
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Polyhydramnios, Pericardial effusion, Carious teeth, Multiple muscular ...	OMIM:620070
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Gastrointestinal dysmotility, Gastroe...	ORPHA:363705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin...	ORPHA:169154
Classic Mycosis Fungoides	Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Erythema, Skin ulcer, Lymphadenopath...	ORPHA:2584
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Arthritis, Increased circulatin...	ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Recurrent infections, Lymphadenop...	OMIM:617591
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Atrial septal defect, I...	ORPHA:521308
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Immunodeficiency 12	Skin rash, Short stature, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronc...	OMIM:615468
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Cardiomegaly, Neonatal death, Hepatomegaly, Premature birth, Nonimmune hydrops fe...	OMIM:608013
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left ventricular ejection f...	OMIM:614096
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema...	OMIM:601927
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Ring Chromosome 1 Syndrome	Downturned corners of mouth, Feeding difficulties in infancy, Wide nasal bridge, Long philtrum	ORPHA:1437
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c...	OMIM:613179
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Recurrent infections, Ly...	OMIM:258360
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te...	ORPHA:85446
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Abn...	OMIM:619941
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increa...	OMIM:602450
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos...	ORPHA:103907
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect...	OMIM:220500
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,...	OMIM:256550
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenopathy, Anemia, ...	ORPHA:507
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infect...	OMIM:614069
Spinal Muscular Atrophy, Type I	Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy...	OMIM:253300
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Wide nasal bridge, Downturned ...	OMIM:618067
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Premature birth, Cardiomegaly, Jaundice, Diarrhea, H...	ORPHA:858
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of...	OMIM:619126
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Wide nasal bridge, Dysphagia, Abno...	OMIM:300978
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Zechi-Ceide Syndrome	Cleft lip, Wide nasal bridge, Cleft palate, Abnormal heart morphology, Downturned corners of mout...	ORPHA:217017
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Lymphedema, ...	ORPHA:1414
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l...	OMIM:619313
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Wide nasal bridge...	OMIM:618950
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Abdominal distention, Breech presentation, Hydrops fetalis, Stillbirth	OMIM:600972
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Facial palsy, Short nose, Feeding difficulties, Downturned corners of...	OMIM:614744
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b...	ORPHA:169805
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Deep philtrum, Wide ...	ORPHA:404440
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Dec...	OMIM:102700
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Abdominal distention, Cleft palate, Anhydramnios, Short no...	OMIM:613885
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Muckle-Wells Syndrome	Episcleritis, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurre...	ORPHA:575
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Ventriculomegaly, Tented upper lip vermilion, Bicuspid aortic valve, Exaggerated cupid's bow, Nar...	OMIM:619720
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Hepatomegaly, Thin upper lip vermilion, Ventriculomegaly, Ventricular...	OMIM:235255
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting	ORPHA:313906
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio...	OMIM:617021
Achondrogenesis Type 1A	Thickened nuchal skin fold, Polyhydramnios, Abdominal distention, Hydrops fetalis, Long philtrum,...	ORPHA:93299
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la...	OMIM:618108
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,...	ORPHA:615
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu...	ORPHA:2041
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Downturned ...	ORPHA:329224
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Wide nasal bridge, Colpocephaly, Decreased liver f...	OMIM:614870
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Ventricular septal defect, Deep philtrum, Poor suck, Feeding difficulti...	OMIM:619717
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Alg8-Cdg	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Premature birth, Edema,...	ORPHA:79325
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Wide nasal bridge, Feeding difficulties, Downturned corners of mouth, T...	OMIM:613792
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil mot...	OMIM:266265
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, A...	ORPHA:99828
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H...	OMIM:604416
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea...	OMIM:618969
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal de...	OMIM:618839
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Fetal Valproate Spectrum Disorder	Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum, Short nose	ORPHA:1906
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterin...	OMIM:618835
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Abnormality of the thyroid gland, Erythe...	ORPHA:542592
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal fistula, Telangiectasia of the skin,...	ORPHA:679
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C...	ORPHA:1937
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp...	OMIM:615779
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	ORPHA:131
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Hemochromatosis, Neonatal	Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro...	OMIM:231100
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd...	OMIM:239300
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Downturned corners of mouth, Wide mouth, High ...	OMIM:617752
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Wide nasal bridge, Abnormal heart morphology, Downturned corners of mo...	ORPHA:369891
Lissencephaly 7 With Cerebellar Hypoplasia	Lymphedema, Downturned corners of mouth, Neonatal death, Arthrogryposis multiplex congenita, Agen...	OMIM:616342
Abcd Syndrome	Polycythemia	OMIM:600501
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi...	ORPHA:327
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ...	OMIM:617022
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi...	OMIM:619652
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of...	OMIM:618729
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ...	ORPHA:87876
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Premature birth, Facial hypotonia, Polyhydramnios, Thick lower lip vermilion, Wide nasal bridge, ...	OMIM:611087
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Decreased muscle mass, ...	ORPHA:298
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Ventriculomegaly, Feeding difficulties, Downturned corners of mouth, Gastroesophage...	ORPHA:251009
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral regur...	OMIM:619167
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect...	OMIM:620210
Necrotizing Enterocolitis	Shock, Premature birth, Edema, Abdominal distention, Diarrhea, Peritonitis, Abnormal heart morpho...	ORPHA:391673
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Feeding...	OMIM:620167
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Sinusitis, Short stature, Recurrent...	OMIM:208900
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Abdom...	OMIM:174050
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Polyhydramnios, Congestive h...	ORPHA:500533
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Increased hematocrit, El...	ORPHA:90041
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon...	ORPHA:90280
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Bruising...	ORPHA:230839
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge, Feeding difficulties	OMIM:614019
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Ventriculomegaly, Protruding tongue, Conotruncal defect, Feeding difficulti...	ORPHA:96147
Thyroid Hemiagenesis	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95719
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic...	ORPHA:75564
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Facial erythema, Folliculitis, Co...	OMIM:308800
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Severe short stature, Cataract, Decreased circulating total IgM...	ORPHA:2643
Gm1 Gangliosidosis	Ventricular septal defect, Premature birth, Camptodactyly of finger, Gastrostomy tube feeding in ...	ORPHA:354
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent upper respiratory tract inf...	OMIM:618944
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Facial dipl...	OMIM:619121
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Arrhythmia	ORPHA:85447
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Roifman Syndrome	Noncompaction cardiomyopathy, Thin upper lip vermilion, Hip contracture, Hepatosplenomegaly, Down...	ORPHA:353298
Catel-Manzke Syndrome	Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis,...	ORPHA:1388
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Feeding difficulties, Downturned corners of mouth, Wide mouth, S...	OMIM:617333
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Nonimmune hydrops fetalis, Dysphagia, Nasogastric tube feeding	ORPHA:477774
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of the dentition, Hydrops fetalis, Cardiomyopathy, Abn...	ORPHA:88618
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Wide nasal bridge, Feeding difficulties, Downturned co...	OMIM:615761
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia	ORPHA:100024
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor...	ORPHA:1876
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormality of the gallbladder, Hydroceph...	ORPHA:2075
Cirrhotic Cardiomyopathy	Cardiomegaly, Global systolic dysfunction, Abnormal bleeding, Hepatomegaly, Elevated pulmonary ar...	ORPHA:57777
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Polyhydramnios, Fetal akinesia sequence, Achilles tendon contractu...	OMIM:301041
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Cornelia De Lange Syndrome 5	Feeding difficulties in infancy, Cleft palate, Downturned corners of mouth, Thin vermilion border...	OMIM:300882
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Intrauterine growth re...	OMIM:616276
Chromosome 4Q21 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Short philtrum, Narrow mouth	OMIM:613509
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal...	ORPHA:99745
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip...	ORPHA:261120
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downtur...	ORPHA:453499
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, All...	OMIM:615816
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deep philtrum, Feeding difficulties	OMIM:618859
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Stevenson-Carey Syndrome	Pierre-Robin sequence, Downturned corners of mouth, Gastroesophageal reflux, Constipation, Narrow...	OMIM:611961
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Intraute...	OMIM:614702
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, A...	ORPHA:848
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Dental crowding, Congenital diaphragmatic hernia, Intestinal malrotati...	OMIM:617602
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Splenomegaly, Meningitis, Uveitis, Lymphadenopathy, Arthritis, Recurrent...	ORPHA:36412
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Chronic Granulomatous Disease	Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S...	ORPHA:379
Qazi-Markouizos Syndrome	Torticollis, High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation...	ORPHA:3010
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Mgat2-Cdg	Abnormal bleeding, Ventricular septal defect, Reduced level of N-acetylglucosaminyltransferase II...	ORPHA:79329
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Feeding difficulties, Pulmonary a...	OMIM:619051
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-...	OMIM:615767
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Potocki-Shaffer Syndrome	Downturned corners of mouth, Short nose, Short philtrum, Wide nasal bridge	OMIM:601224
Achondrogenesis	Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose	ORPHA:932
Immunodeficiency 9	BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis	OMIM:612782
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morpholog...	ORPHA:83473
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Anorexi...	ORPHA:3452
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in...	ORPHA:169090
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Abdominal pain, Periorbital edema, Chronic d...	OMIM:142680
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, High, narrow palate, Constipation, Downturned corners of mouth	OMIM:273390
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, I...	OMIM:619110
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Persis...	OMIM:619510
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Everted lower lip vermilion, Pulmonic stenosis, Atrial se...	OMIM:249670
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Avian Influenza	Pneumonia, Thrombocytopenia, Meningitis, Hepatitis, Sepsis, Leukopenia, Conjunctivitis, Lymphopen...	ORPHA:454836
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Hepatoportal Sclerosis	Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertensio...	ORPHA:64743
Kleefstra Syndrome	Delayed eruption of teeth, Ventriculomegaly, Tented upper lip vermilion, Ventricular septal defec...	ORPHA:261494
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, H...	ORPHA:3378
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Feeding difficulties, Wide mouth, Delayed eru...	OMIM:618506
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l...	OMIM:615524
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, Short philtrum	OMIM:618731
Mosaic Trisomy 9	Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyh...	ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect, Feeding difficulties	OMIM:614249
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N...	ORPHA:2869
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Mitral regurgitation, Single u...	OMIM:620244
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Facial hypotonia, Wide nasal bridge, Noncommunicating hydrocephalus, ...	OMIM:619320
Potocki-Shaffer Syndrome	Downturned corners of mouth, Hypertension, Short philtrum	ORPHA:52022
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Sepsis, Recurrent cutaneous fungal infections, Recurren...	ORPHA:477
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Thickened nuchal skin fold, Angina ...	ORPHA:758
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose	ORPHA:93298
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Polyhydramnios, Flexion contracture, High palate, Sh...	OMIM:620369
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent infections, Hypoplasia of the iris, Recurrent bacterial in...	OMIM:612783
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Polyhydramni...	ORPHA:1655
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Diarrhea, Re...	ORPHA:79076
Wolman Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Esophageal v...	ORPHA:75233
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Wide nasal bridge, Feeding difficulties, Smo...	OMIM:620393
Peho-Like Syndrome	Ventriculomegaly, Edema, Feeding difficulties, Open mouth, Short nose	OMIM:617507
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d...	ORPHA:100075
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P...	ORPHA:422
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Ventric...	OMIM:601005
Nizon-Isidor Syndrome	Thin upper lip vermilion, Feeding difficulties in infancy, High, narrow palate, Upper eyelid edem...	OMIM:618872
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Narrow mouth	OMIM:601379
Hermansky-Pudlak Syndrome 2	Epicanthus, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, R...	OMIM:608233
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Malnutrition, Abnormality of...	ORPHA:79456
Immunodeficiency 54	Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret...	OMIM:609981
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hydrocephalus, Flex...	OMIM:253220
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans...	OMIM:300280
Prolidase Deficiency	Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der...	OMIM:170100
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow palate, Hydrocep...	ORPHA:2409
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus, Cardiomegaly	OMIM:300886
Monosomy 18P	Lymphedema, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Hyperten...	ORPHA:1598
Keipert Syndrome	Downturned corners of mouth, Exaggerated cupid's bow, Thick upper lip vermilion, Camptodactyly	OMIM:301026
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsis, Uveitis, Ul...	ORPHA:810
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defect, High, narrow palate...	ORPHA:435638
German Syndrome	Camptodactyly of finger, Lymphedema, Wide nasal bridge, Orofacial cleft, Abnormal cardiac septum ...	ORPHA:2077
Weiss-Kruszka Syndrome	Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dext...	OMIM:618619
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition...	OMIM:619445
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoe...	ORPHA:1780
Recon Progeroid Syndrome	Short stature, Thrombocytopenia, Red eye, Absent lower eyelashes, Growth delay, Recurrent infecti...	OMIM:620370
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Agenesis of corpus callosum, Prominent ...	OMIM:200990
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth	OMIM:215045
Basilicata-Akhtar Syndrome	Ventriculomegaly, Tented upper lip vermilion, Feeding difficulties, Downturned corners of mouth, ...	OMIM:301032
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abdominal pain, Congestive heart failu...	OMIM:235200
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Tetralogy of Fallot, ...	OMIM:618624
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, S...	OMIM:619375
Paganini-Miozzo Syndrome	Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border, Feeding difficu...	OMIM:301025
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Facial erythema, Folliculitis, Conjunctivi...	OMIM:612843
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Malabsorption, Diarrh...	ORPHA:98850
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos...	OMIM:615387
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smooth philtrum	OMIM:613192
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Flexion contracture, Increased placental thickness, Hydrops fetalis, Abnormal hear...	ORPHA:1865
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Wide nasal bridge, Cardiomyopathy, Short philtrum, Decreased liv...	OMIM:618437
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ...	OMIM:212093
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Alg9-Cdg	Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow...	ORPHA:79328
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Wide nasal bridge, Everted lower lip vermilion, Gastroes...	ORPHA:228399
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart...	OMIM:614921
Camptodactyly Syndrome, Guadalajara Type 1	Scapular winging, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental malo...	ORPHA:1327
Autoimmune Hepatitis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Ventriculomegaly, Lymphedema, Dental malocclusion, Wide nasal bridge, D...	OMIM:616737
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Entropion, Thrombocytopenia, Corneal erosion, Erythema, Sepsis,...	ORPHA:537
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif...	OMIM:241600
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Myositis, Edema, Abdominal pain, Raynaud phenomenon, P...	ORPHA:93552
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border, Short philtrum,...	ORPHA:238750
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Premature birth, Abnormal pulmonary valve morphology, Portal hyperte...	ORPHA:974
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S...	OMIM:608227
Fibrochondrogenesis 1	Narrow mouth, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum, Shor...	OMIM:228520
Distal Duplication 15Q	Congenital muscular torticollis, Camptodactyly of finger, Downturned corners of mouth, High palat...	ORPHA:1707
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites	ORPHA:2123
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Acrocephalopolydactyly	Short nose, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Downturned corners of mouth, High palate, Short philtrum	ORPHA:85280
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Generalized edema, Abdominal pain, Enlarged polycystic ovaries, Abdominal di...	ORPHA:64739
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cleft palate, Feedin...	ORPHA:457193
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Chromosome 18Q Deletion Syndrome	U-Shaped upper lip vermilion, Thin upper lip vermilion, Absence of the pulmonary valve, Ventricul...	OMIM:601808
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges...	ORPHA:727
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Achondrogenesis, Type Ii	Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum	OMIM:200610
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Dental malocclusion, Wide nasal bridge, Feeding ...	OMIM:619149
Intellectual Developmental Disorder, Autosomal Dominant 41	Downturned corners of mouth	OMIM:616944
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Dental crowding, Poor appetite, Feeding difficulties in infancy, High, nar...	ORPHA:96182
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Microvesicular hepatic steatosis, Flexion contracture, Hydrops fetalis, Knee flex...	OMIM:300868
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal h...	ORPHA:531151
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Abnormality of the musculatu...	ORPHA:137667
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct...	ORPHA:247691
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Feeding difficulties, Bradycardia, Hypertrophic cardiomyopathy, Poor suck	OMIM:616277
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Granulomatosis, Conjunctivitis, Chronic ...	OMIM:608710
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Increased nuchal translucency, Feeding difficulties, Wide mouth, Singl...	OMIM:617635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,...	OMIM:613156
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Carious teeth, Nasogastric tube feeding in infancy, Feeding difficultie...	ORPHA:177907
Coffin-Siris Syndrome 11	Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Downturned corners of mou...	OMIM:618779
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Bradycardia, P...	ORPHA:226313
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Pierre-Robin sequence, Cleft palate, Downturned corners of mouth, Cardiomyopathy, Abnormal cardia...	OMIM:217980
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis...	ORPHA:834
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Prolonged bleeding time, Myositis, Gastr...	ORPHA:809
Cryoglobulinemic Vasculitis	Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthritis, Keratoconjunct...	ORPHA:91138
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Mirage Syndrome	Recurrent urinary tract infections, Short stature, Hypergonadotropic hypogonadism, Adrenal hypopl...	OMIM:617053
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Constipation, Feeding difficulties	OMIM:616708
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Dyspepsia, Intestinal obstruction, Abnormality of the ...	ORPHA:85450
Congenital Hydrocephalus	Colpocephaly, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology	ORPHA:2185
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Feeding difficulties, Cardiomyopathy, D...	ORPHA:79255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr...	ORPHA:352665
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of...	ORPHA:251076
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Wide nasal bridge	ORPHA:352530
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Abdominal distention, Chronic di...	OMIM:620233
Tyshchenko Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, High, narrow palate, Narrow palate, C...	OMIM:615102
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Deep philtrum, Wide nasal bridge, Cleft palate, Abnormal heart morphology, Downturned ...	OMIM:618571
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m...	ORPHA:95427
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy...	OMIM:235700
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Intracranial hemorrhage, Oral cavity ble...	ORPHA:324636
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Thin upper lip vermilion, Dilated four...	OMIM:212065
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior...	OMIM:616843
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Thin upper lip vermilion, Feeding difficulties in infancy, Downturned corners of mouth, Short phi...	ORPHA:231137
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Exaggerated cupid's bow, Facial hypotonia, Cardiac con...	ORPHA:2131
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Abnormality of the dentition, Deep philtrum, Downturned corners of mouth, High palate, Long philt...	OMIM:615398
Trichothiodystrophy	Congenital exfoliative erythroderma, Epicanthus, Eczema, Recurrent bronchopulmonary infections, C...	ORPHA:33364
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Lateral ventricle dilatation, Oligodontia, A...	OMIM:618330
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Vasc...	ORPHA:343
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced tee...	OMIM:617865
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ...	ORPHA:47612
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly, Feeding difficulties in infancy, High ...	OMIM:618798
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Diabetes Mellitus, Permanent Neonatal, 2	Downturned corners of mouth, Flexion contracture	OMIM:618856
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Hepat...	OMIM:617341
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Micronodul...	OMIM:192315
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep...	OMIM:613759
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Erythema, Enterocolitis, Ulcerativ...	OMIM:614878
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente...	OMIM:235510
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, G...	OMIM:618268
Sea-Blue Histiocytosis	Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thromb...	ORPHA:158029
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of the dentition...	OMIM:612394
Focal Facial Dermal Dysplasia Type I	Downturned corners of mouth, Thick upper lip vermilion	ORPHA:79133
Mmep Syndrome	Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd...	OMIM:606824
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting, Hepa...	OMIM:278000
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal...	OMIM:612863
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Niemann-Pick Disease, Type A	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat...	OMIM:257200
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Anorexia, Malabsorption, Periorbital edema,...	ORPHA:33226
Edinburgh Malformation Syndrome	Hydrocephalus, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short nose	ORPHA:1895
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties, Downturned corners of...	OMIM:618430
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties ...	OMIM:617751
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Stevens-Johnson Syndrome	Recurrent respiratory infections, Entropion, Abnormality of neutrophils, Thrombocytopenia, Cornea...	ORPHA:36426
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly, Gastroesophageal reflux, Constipation, Thick vermilion border	ORPHA:3137
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cleft lip, Dental ma...	OMIM:616894
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent...	ORPHA:284169
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Breech presentation, Feeding difficulties, Downturned corners of mouth, Chronic...	OMIM:617796
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Short stature, Abnormal eyelid morphology, Pustule, Corneal erosion,...	ORPHA:37
Congenital Factor Xii Deficiency	Retinal vein occlusion, Penetrating foot ulcers, Retinal arteriolar occlusion	ORPHA:330
Lichen Planus Pemphigoides	Skin vesicle, Conjunctivitis, Blepharitis	ORPHA:254478
Holocarboxylase Synthetase Deficiency	Eczema, Keratoconjunctivitis, Growth delay, Thrombocytopenia, Perioral eczema	ORPHA:79242
Ollier Disease	Precocious puberty, Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Pontocerebellar Hypoplasia, Type 3	Downturned corners of mouth, High, narrow palate, High palate, Long philtrum	OMIM:608027
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short nose, Wide nas...	ORPHA:401935
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Feeding difficulties, Reduced ...	OMIM:620203
Boomerang Dysplasia	Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios	ORPHA:1263
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehyd...	ORPHA:79282
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Premature birth, Edema, Splenomegaly, Jaundice, Gas...	ORPHA:90051
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef...	ORPHA:314473
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Feeding difficulties, Widely spaced ...	OMIM:617616
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Median cleft lip, Hamartoma of tongue, Intest...	OMIM:263520
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Cardiomega...	ORPHA:308552
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Recurrent ea...	ORPHA:221139
Zttk Syndrome	Feeding difficulties in infancy, Flexion contracture, Downturned corners of mouth, High palate, S...	OMIM:617140
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, Abdominal pain,...	ORPHA:100924
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio...	OMIM:300967
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Galloway-Mowat Syndrome 6	Downturned corners of mouth, Wide mouth, High palate, Microdontia, Intrauterine growth retardation	OMIM:618347
Lambert Syndrome	Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Intrahepatic biliary atresia, Intra...	ORPHA:1296
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Downturned corners of mouth, Skeletal muscle atrophy, Wide mouth, Short philtrum	OMIM:619759
Hemophilia B	Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma	OMIM:306900
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties ...	OMIM:610759
Lynch Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal polyposis, Abdominal pain, Hepatocel...	ORPHA:144
Emanuel Syndrome	Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se...	OMIM:609029
Familial Cold Urticaria	Arthritis, Erythema, Conjunctivitis	ORPHA:47045
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circu...	ORPHA:2314
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ...	OMIM:618089
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Epicanthus, Telecanthus, Thrombocytopenia, Sepsis, Hepatospleno...	ORPHA:505248
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Deep philtrum, Poo...	OMIM:606003
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Diarrhea, Abn...	ORPHA:42
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Pedal edema, Ascites	ORPHA:168811
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Myocarditis, Leukocytosis, Sp...	ORPHA:829
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Cri-Du-Chat Syndrome	Diastasis recti, Feeding difficulties in infancy, Thick lower lip vermilion, Wide nasal bridge, O...	OMIM:123450
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Recurrent pharyngitis, Cervical lymphadenopat...	ORPHA:2331
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Mehmo Syndrome	Downturned corners of mouth, Thick vermilion border	ORPHA:85282
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Severe short stature, Cataract, B lymphocytopenia	OMIM:619851
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl...	OMIM:618494
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Vici Syndrome	Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropeni...	OMIM:242840
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Cholelithiasis, Decre...	OMIM:240300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive he...	ORPHA:49827
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Chops Syndrome	Ventricular septal defect, Gastroparesis, High, narrow palate, Splenomegaly, Anomalous pulmonary ...	OMIM:616368
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Syndromic Diarrhea	Gastritis, Short stature, Increased mean platelet volume, Thrombocytosis, Splenomegaly, Hypothyro...	ORPHA:84064
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul...	OMIM:619752
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Thin upper lip vermilion, Abnormal lateral ventricle morphology, Intrauterine growth retardation,...	ORPHA:488635
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Growth delay, Conjunctivitis, Anemia	OMIM:226600
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Narrow mouth	ORPHA:3469
Feingold Syndrome 2	Ventricular septal defect, Intestinal atresia	OMIM:614326
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Skin ulcer, Interstitial pneumonitis, Granulocyto...	ORPHA:454831
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Gout, Recurrent infections, Neutropenia, Intrauterine growth retardation, Anemia	OMIM:617056
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Single umb...	OMIM:220210
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma...	ORPHA:555874
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, ...	ORPHA:508542
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Abnormality of the gastrointestinal t...	ORPHA:91139
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti...	ORPHA:90003
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Orofa...	ORPHA:268249
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Ede...	OMIM:607598
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Microcephaly 16, Primary, Autosomal Recessive	Open mouth, Agenesis of corpus callosum, Knee flexion contracture	OMIM:616681
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Neoplasm of the colon, Abdominal pain, Hepatoce...	ORPHA:440437
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i...	ORPHA:2686
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Pallor, Hypothyroidism, Hypoparathyroidism, Chronic i...	ORPHA:231226
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Cleft palate, Poor suck, Downturned corners of...	OMIM:616364
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Hepatiti...	ORPHA:319218
Delpire-Mcneill Syndrome	Agenesis of corpus callosum, Ventricular septal defect, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A...	ORPHA:231222
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Upslanted palpebral fiss...	OMIM:214110
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Long nose, Hydrocephalus, Right bundle branch block, Downturned corners...	OMIM:618590
Hall-Riggs Syndrome	Delayed eruption of teeth, Nausea and vomiting, Abnormal dental enamel morphology, Wide nasal bri...	ORPHA:2107
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur...	ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipid content, Knee flexion contr...	OMIM:608836
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, High, narrow palate,...	ORPHA:166108
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Decreased circul...	OMIM:615688
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Hypoplasia of teeth, Downturned corners of mouth, Oligodontia, Short ph...	ORPHA:391408
Meckel Syndrome 14	Tricuspid regurgitation, Abdominal distention, Increased nuchal translucency, Mitral regurgitatio...	OMIM:619879
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Down Syndrome	Thickened nuchal skin fold, Aganglionic megacolon, Protruding tongue, Abnormality of the dentitio...	ORPHA:870
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Pericardial effusion, Wide nasal bridge, Wide mouth, Long philtrum, Upt...	OMIM:614684
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intrac...	ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Ventriculomegaly, Dental crowding, Persistence of primary teeth, Thick lower lip ve...	OMIM:618342
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic...	OMIM:617049
Poems Syndrome	Hypogonadism, Thrombocytosis, Polycythemia, Erectile dysfunction	ORPHA:2905
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Cleft palate, Hydrops fetalis, Polyhydramnios	ORPHA:85166
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Intrauterine growth retardat...	OMIM:615966
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Abdominal distention, Gastroin...	ORPHA:436252
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Sudden cardiac death, C...	OMIM:201475
Filippi Syndrome	Ventricular septal defect, Wide nasal bridge, Thin vermilion border, Short philtrum, Hypodontia, ...	OMIM:272440
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Thick lower lip vermilion,...	OMIM:239850
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, High palate, Gastr...	ORPHA:96170
White-Sutton Syndrome	Abnormality of the gastrointestinal tract, Thin upper lip vermilion, Facial hypotonia, Congenital...	ORPHA:468678
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level, Delayed eruption of permanent teeth, Narrow mouth, Atr...	OMIM:619356
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Long nose, Patent foramen ovale, Partial agenesis of the corpus callos...	OMIM:620113
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Retinal telangiectasia, Pulmonary embolism, Cholecystitis, Intestina...	ORPHA:774
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Triangular mouth, Agenesis of corpus callosum, Wide nasal bridge	ORPHA:166024
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Exaggerated cupid's bow, Prenatal movem...	ORPHA:2215
3C Syndrome	Feeding difficulties in infancy, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve m...	ORPHA:7
Chylomicron Retention Disease	Elevated hepatic transaminase, Abdominal distention, Diarrhea, EMG: myopathic abnormalities, Myop...	ORPHA:71
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Pontocerebellar Hypoplasia, Type 13	Thin upper lip vermilion, Macrodontia, Edema, Volvulus, Feeding difficulties, Lateral ventricle d...	OMIM:618606
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Downturned corners of mouth, Feeding difficulties in infancy, Short philtrum	OMIM:618672
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d...	OMIM:619534
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Downturned corners of mouth, Camptodactyly of finger, Wide nasal bridge, Polyhydramnios	ORPHA:2774
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atri...	OMIM:613610
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
21Q22.11Q22.12 Microdeletion Syndrome	Thin upper lip vermilion, Dental crowding, Feeding difficulties in infancy, Thick lower lip vermi...	ORPHA:261323
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa...	ORPHA:69735
Cirrhosis, Familial	Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, E...	OMIM:215600
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Gastrostomy tube feeding in infancy, Wide nasa...	ORPHA:247262
Acitretin/Etretinate Embryopathy	Epicanthus, Hypoplasia of the thymus, Antecubital pterygium	ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Peau d'orange, Ventricular septal...	OMIM:614576
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Polyhydra...	ORPHA:2241
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar...	OMIM:615190
Au-Kline Syndrome	Thickened nuchal skin fold, Ventriculomegaly, Breech presentation, Short nose, Dental malocclusio...	OMIM:616580
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Skeletal mu...	ORPHA:333
Alg13-Cdg	Abnormal lateral ventricle morphology, Long philtrum	ORPHA:324422
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Intestinal obstruction, Anorexia,...	ORPHA:97278
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Carious teeth, Downturned corners of mouth, Narrow mouth, Intrauterine growth r...	ORPHA:1110
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition...	ORPHA:96167
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Acute Interstitial Pneumonia	Bronchiectasis, Reduced hematocrit	ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Elbow contracture, Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Intrauter...	OMIM:620275
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Secundum atri...	OMIM:617397
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Nasogastric tube feedin...	ORPHA:369837
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Lamb-Shaffer Syndrome	Open mouth, Dental crowding, Wide nasal bridge	OMIM:616803
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe...	OMIM:614262
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Wide nasal bridge, Feeding difficulties, Glossop...	OMIM:613604
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Open mouth, Dandy-Wa...	OMIM:147800
Gaucher Disease	Abnormal bleeding, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abn...	ORPHA:355
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom...	OMIM:615978
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D...	OMIM:617201
Clouston Syndrome	Cataract, Sparse eyelashes, Short stature, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Partial agenesis of the corpus callosum, Flexion contracture, Feeding ...	ORPHA:79243
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Ventriculomegaly, Left-to-right shunt, Abnormality of the dentition, Carious teeth, Dysplastic co...	ORPHA:363444
Intellectual Developmental Disorder, X-Linked 98	Tented upper lip vermilion, Long nose, Lower limb amyotrophy, Feeding difficulties, Downturned co...	OMIM:300912
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myositis, M...	ORPHA:117
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Protuberant abdomen, Short nose	OMIM:269250
Aortic Arch Interruption	Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Beta-Thalassemia Major	Extramedullary hematopoiesis, Pallor, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate pr...	ORPHA:231214
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal...	ORPHA:160
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Generalized amyotrophy, Dysplastic corpus callosum, Abdominal distention	OMIM:619423
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Wide nasal bridge, Cleft...	OMIM:619980
Trisomy 12P	Thickened nuchal skin fold, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted...	ORPHA:1699
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Dehydration, Hepatic fibrosis, Vomiting, Abdominal pain, Hypovo...	ORPHA:275761
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Premature birth...	ORPHA:73263
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Intrauterine growth r...	ORPHA:2772
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corpus c...	OMIM:613174
Smith-Lemli-Opitz Syndrome	Dental crowding, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, Vomiting,...	OMIM:270400
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Gingival ov...	OMIM:607014
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv...	ORPHA:1507
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Achondrogenesis, Type Ia	Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Ab...	OMIM:200600
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pleural effusion, Mitral regurgi...	OMIM:615355
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Birth length less than 3rd percentile, Recurrent bacterial infection...	OMIM:244460
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Distal Deletion 3P	Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Long philtrum, Int...	ORPHA:1620
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Dehydration, Abnormal small intesti...	ORPHA:2290
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,...	ORPHA:69126
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Downturned corners of mouth, Abnormality of the musculature of the lower limbs	ORPHA:464282
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Foot joint contracture, Wide nasal bridge, Widely spaced teeth, Short phil...	OMIM:619641
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Feeding difficulties in infancy, Open mouth, Short nose	OMIM:613670
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Intellectual Developmental Disorder, Autosomal Recessive 35	Downturned corners of mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	OMIM:615162
Joubert Syndrome 18	Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic biliary atresia, Camptoda...	OMIM:614815
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, D...	OMIM:301030
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Dilated cardiomyopathy, Dysphagia, Feeding difficult...	ORPHA:261250
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ...	ORPHA:44890
Donohue Syndrome	Skeletal muscle atrophy, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Ch...	OMIM:246200
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Hamartoma of tongue, Polyhydramnios, Congenital diaphragmatic hernia, Hy...	OMIM:616546
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic...	OMIM:617450
Silver-Russell Syndrome	Decreased muscle mass, Premature birth, Dental crowding, Feeding difficulties, Downturned corners...	ORPHA:813
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Lymphedema, Flexion contr...	ORPHA:487796
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, E...	OMIM:269860
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Constipation, Menorrhagia	ORPHA:168816
Silver-Russell Syndrome 2	Downturned corners of mouth, Intrauterine growth retardation	OMIM:618905
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Agenesis of permanent teeth, ...	OMIM:614091
Li-Campeau Syndrome	Ventricular septal defect, Gastrointestinal dysmotility, Long philtrum, Atrial septal defect, Pat...	OMIM:619189
Intellectual Developmental Disorder, Autosomal Dominant 1	Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Macroglossia, Wide m...	OMIM:156200
Yunis-Varon Syndrome	Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg...	ORPHA:3472
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Abnormal heart...	ORPHA:500159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i...	OMIM:304790
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Conjunctival hyperemia	OMIM:619548
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Growth delay, Recurrent bacte...	OMIM:615895
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Diabetes mell...	ORPHA:33001
Trigonocephaly With Short Stature And Developmental Delay	High palate, Wide nasal bridge, Ventricular septal defect, Broad alveolar ridges	OMIM:314320
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular...	ORPHA:88
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Magel2-Related Prader-Willi-Like Syndrome	Decreased fetal movement, Thin upper lip vermilion, Flexion contracture, Xerostomia, Feeding diff...	ORPHA:398069
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abdominal pain, Abdominal distention, Ileus, Ascites	ORPHA:83469
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Congenital Myopathy 22A, Classic	Dental crowding, Polyhydramnios, Ragged-red muscle fibers, High palate, Generalized amyotrophy, N...	OMIM:620351
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Wide nasal bridge, Lateral ventricle dilatation, Atrial septal ...	OMIM:608629
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Wide nasal bridge, Macroglossia, High palat...	OMIM:269921
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Deep philtrum, Double outlet right ventricle, Downturned corners of mo...	ORPHA:163956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Skin ...	ORPHA:1806
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Exaggerated cupi...	OMIM:615879
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Intestin...	ORPHA:2729
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Intestinal obstruction, Anorexia,...	ORPHA:97261
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, Cleft palate, Impaired myocardial contractility, Hypovolemic shock, Ca...	ORPHA:158687
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Flexion contracture, Interphalange...	OMIM:613870
Warburg Micro Syndrome 3	Decreased muscle mass, Flexion contracture, Narrow palate, Downturned corners of mouth, Short nos...	OMIM:614222
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Abdominal colic, Nausea, Abdominal pain, Anorexia, Ab...	ORPHA:521219
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Wide nasal bridge, Narrow palate, Down...	OMIM:620107
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, Congenital contracture...	OMIM:620156
Focal Facial Dermal Dysplasia Type Iii	Downturned corners of mouth, Short philtrum, Wide nasal bridge	ORPHA:1807
Atelis Syndrome 2	Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned corners of mouth,...	OMIM:620185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Ventriculomegaly, Diastasis recti, Polyhydramnios, Feeding difficulties...	OMIM:618548
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, High palate, Ventricular septal defect, Wide nasal bridge	ORPHA:3369
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Gingival overgrowth, Gingival fibromatosis...	OMIM:135500
Glutamine Deficiency, Congenital	Flexion contracture, Wide nasal bridge, Subependymal cysts, Lateral ventricle dilatation, Thin ve...	OMIM:610015
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle...	OMIM:266500
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Bronchiolitis, Skin ulcer, Chronic otitis media, Chronic sinusiti...	OMIM:604571
22Q11.2 Deletion Syndrome	Polyhydramnios, Feeding difficulties in infancy, Anorectal anomaly, Short philtrum, Gastroesophag...	ORPHA:567
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	OMIM:617243
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Arthritis, Inflammatory abnormality of the eye, Anemia	ORPHA:3287
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:187900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Gastroesophageal reflux, Atria...	OMIM:249270
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Exocri...	ORPHA:699
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Long nose, Wide nasal bridge, Dextrotransposition of the great arterie...	OMIM:619995
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormal dental enamel morphology, Ano...	ORPHA:79430
Cockayne Syndrome Type 1	Cataract, Postnatal growth retardation, Cryptorchidism, Uveitis, Conjunctivitis, Male hypogonadis...	ORPHA:90321
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Premature birth, Congestive heart failure, Abdominal distention, Abnor...	ORPHA:1830
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Flexion contracture, Wide nasal bridge, Feed...	OMIM:617452
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva...	ORPHA:158048
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Diastasis recti, Wide mouth, Protuberant abdomen, Long philtrum, Open mouth,...	ORPHA:457485
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Neuropathy, Hereditary Sensory, Type Iic	Short stature, Acral ulceration	OMIM:614213
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft pal...	OMIM:612938
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Episodic ...	OMIM:600721
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria...	OMIM:612946
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Downturned corners of mouth, Intrauterine growth retardation, Oligodontia, Narrow mouth	OMIM:616817
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Polyhyd...	ORPHA:3071
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Elevated circulating thyroid-stimulating hormone concentration, Increased circ...	OMIM:256040
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Intestinal obstruction, Anorexia,...	ORPHA:97280
Turnpenny-Fry Syndrome	Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Downturned corners of mouth, Hi...	OMIM:618371
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Abnormal myocardium morphology, High, narrow palate, Hyd...	ORPHA:228308
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Intestinal obstruction, Anorexia,...	ORPHA:97283
Lethal Kniest-Like Dysplasia	Polyhydramnios, Edema, Breech presentation, Cleft palate, Protuberant abdomen, Atrial septal defect	ORPHA:2347
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft palate, Mitral valve p...	OMIM:612561
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocy...	ORPHA:391487
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Ventricular septal defect, Ventriculomegaly	OMIM:613730
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Dehydration, Abnormal heart morphology, Downturned corners of mouth, Lower-limb join...	ORPHA:99885
Fetal Trimethadione Syndrome	Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Short stature, Splenomegaly, Loss of eyelashes, Corneal scarrin...	OMIM:263700
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Jaundice, Ep...	ORPHA:370348
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Short stature, Thrombocytopenia...	OMIM:305000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Feeding difficulties in infancy, Larg...	ORPHA:254534
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Short nose	ORPHA:163649
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Orofacial clef...	OMIM:615630
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Abdom...	ORPHA:465508
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Polyhydramnios, Deep philtrum, Hydrocephalus...	OMIM:619833
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Downturned corners of mouth	OMIM:618718
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Acquired Purpura Fulminans	Skin rash, Pyoderma gangrenosum, Sepsis, Macular purpura, Thrombocytopenia	ORPHA:49566
Dend Syndrome	Dehydration, Downturned corners of mouth, Vomiting, Long philtrum, Short nose	ORPHA:79134
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p...	OMIM:208150
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Short stature, Eczema, Postnatal growth retardation...	OMIM:618985
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Camptodactyly of finger, Long nose, High, narrow palate, Narrow ...	ORPHA:1968
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Wide mouth, Macroglossia, Short philtru...	OMIM:615668
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum	ORPHA:2983
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub...	ORPHA:3426
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial...	ORPHA:139466
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Ventricular septal defect, C...	ORPHA:261236
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich...	ORPHA:95455
Prader-Willi Syndrome	Decreased fetal movement, Low 5-minute APGAR score, Thin upper lip vermilion, Decreased muscle ma...	OMIM:176270
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Facial palsy, Polyhydramnios, Echogenic fetal bowel, Cario...	OMIM:620186
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Thin upper lip vermilion, Flexion contracture, Dysphagia, Downturned corne...	OMIM:620029
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha...	ORPHA:900
Campomelia, Cumming Type	Hepatomegaly, Lymphedema, Hydrops fetalis, Cleft palate, Abnormal intestine morphology, Oligohydr...	ORPHA:1318
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li...	OMIM:616920
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Short lingual frenulum, Epistaxis, Dental crowding, Thick lo...	ORPHA:293939
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:615279
Cockayne Syndrome Type 2	Cryptorchidism, Uveitis, Developmental cataract, Male hypogonadism, Conjunctivitis, Intrauterine ...	ORPHA:90322
Glycogen Storage Disease Ib	Short stature, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Xanthelasma, Inflammation of...	OMIM:232220
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja...	ORPHA:100086
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Polyhydramnios, Microvesicular hepatic steatosis, Congestive heart...	OMIM:617156
Distal Deletion 6P	Ventriculomegaly, Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Sho...	ORPHA:96125
Mehmo Syndrome	Cleft lip, Cleft palate, Widely spaced teeth, Long philtrum, Open mouth, Ventriculomegaly	OMIM:300148
Burn-Mckeown Syndrome	Ventricular septal defect, Cleft upper lip, Feeding difficulties in infancy, Cleft palate, Thin v...	OMIM:608572
Intellectual Developmental Disorder With Autism And Macrocephaly	Open mouth, Constipation, Wide nasal bridge, Long philtrum	OMIM:615032
Pontocerebellar Hypoplasia, Type 1A	Spinal muscular atrophy, Feeding difficulties in infancy, Lateral ventricle dilatation, Congenita...	OMIM:607596
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do...	OMIM:231060
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon,...	OMIM:106260
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va...	OMIM:618316
5Q14.3 Microdeletion Syndrome	Short nose, Feeding difficulties, Short philtrum, Open mouth, Ventriculomegaly	ORPHA:228384
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ...	OMIM:265000
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthritis	OMIM:614204
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia, Petechiae, Iris hypop...	ORPHA:79477
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Agel Amyloidosis	Cataract, Bilateral ptosis, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, A...	ORPHA:85448
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hepatitis, In...	OMIM:194380
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Ventricular septal defect...	OMIM:208085
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Fetal pyelectasis, Hypoperistalsis, Oligohydramnios	OMIM:619365
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, Feeding difficulties, High palate, Long philtrum, Atria...	OMIM:620184
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Cataract, Conjunctivitis, Chronic mucocutaneous candidiasis	ORPHA:36913
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Myop...	ORPHA:3463
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hep...	ORPHA:186
Thanatophoric Dysplasia, Type I	Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Polyhydramnios, Breech ...	OMIM:187600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Long nose, Wide nasal bridge, Thick vermi...	OMIM:137940
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Deep philtrum, Cleft palate, Downturned corne...	ORPHA:251014
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, Ec...	ORPHA:99827
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Dental crowding, Anorex...	ORPHA:394
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Contractures of the large joints, Lateral ve...	ORPHA:3078
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Feeding difficulties in infancy, Gastrointestinal dysmotility, Downturned corners of mouth, Short...	ORPHA:500150
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Eec Syndrome	Entropion, Short stature, Decreased response to growth hormone stimulation test, Sparse eyebrow, ...	ORPHA:1896
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Breech presentation, Flexion contracture, Retinal hemorrh...	OMIM:614653
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Smooth philtrum	OMIM:602501
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, Ve...	OMIM:301044
Verheij Syndrome	Thin upper lip vermilion, Ventricular septal defect, Wide nasal bridge, Cleft palate, Feeding dif...	OMIM:615583
Lead Poisoning	Delayed eruption of teeth, Premature birth, Anorexia, Abdominal pain, Abdominal distention, Hyper...	ORPHA:330015
Wolf-Hirschhorn Syndrome	Decreased fetal movement, Abnormal heart valve morphology, Abnormality of the philtrum, Congenita...	ORPHA:280
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma...	ORPHA:1166
Fumarase Deficiency	Necrotizing enterocolitis, Polycythemia	OMIM:606812
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Fetal ascites, Deep philtrum, Flexion contracture, Knee flexion contracture, Dow...	OMIM:619503
Thyroid Hypoplasia	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95720
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mannosidosis, Alpha B, Lysosomal	Epicanthus, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Growth de...	OMIM:248500
Perlman Syndrome	Hepatomegaly, High, narrow palate, Short nose, Wide nasal bridge, Abnormal upper lip morphology, ...	ORPHA:2849
Solitary Rectal Ulcer Syndrome	Abdominal pain, Rectal prolapse, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal...	ORPHA:209964
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Wide nasal bridge, Short philtrum, Abnormal oral cavity morphology, Open mouth	ORPHA:1516
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa, Anemia	OMIM:608068
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Perior...	OMIM:619016
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Limb joint contracture, Ankle flexion contracture, Feeding difficulti...	ORPHA:284417
Tetrasomy 9P	Myositis, Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philt...	ORPHA:3310
Diaphanospondylodysostosis	Increased nuchal translucency, Short nose, Cleft palate, Abnormal liver lobulation, Protuberant a...	OMIM:608022
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Feeding difficulties, Colpocephaly, Reduced liver 2,4-dienoyl-CoA reductase activi...	OMIM:616034
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Feeding difficulties, Transposition of the great a...	ORPHA:1461
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Ventricular septal defect, Bicuspid ao...	ORPHA:457279
Peho Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Fee...	OMIM:260565
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Vomitin...	OMIM:619991
Weill-Marchesani Syndrome	Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis	ORPHA:3449
Woods Syndrome	Thin vermilion border, Ventricular septal defect, Wide nasal bridge	OMIM:615236
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Calcinosis, Raynaud phe...	OMIM:613471
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Feeding difficulties, Lateral ventricle dilatation, High palate, Gastro...	OMIM:617854
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Perimembranous ventricular se...	OMIM:618651
Intellectual Developmental Disorder, X-Linked 106	Thin upper lip vermilion, Thick vermilion border, Bicuspid aortic valve, Open mouth	OMIM:300997
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of ...	ORPHA:955
Ovarian Fibrothecoma	Abdominal pain, Abdominal distention, Peritonitis, Pleural effusion, Ascites	ORPHA:314478
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Ventricular sept...	ORPHA:26793
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Decreased fetal movement, Skeletal muscle atrophy, Multiple joint contractures, Polyhydramnios, F...	OMIM:618291
King-Denborough Syndrome	Decreased fetal movement, Ventricular septal defect, Centrally nucleated skeletal muscle fibers, ...	OMIM:619542
Peho Syndrome	Ventriculomegaly, Palpebral edema, Hydrocephalus, Short nose, Flexion contracture, Gingival overg...	ORPHA:2836
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting	ORPHA:35710
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal...	OMIM:616589
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Wide nasal bridge, Single umbilical a...	ORPHA:2256
Acute Intermittent Porphyria	Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Tachycardia, Proximal...	ORPHA:79276
Lassa Fever	Increased circulating IgM level, Conjunctivitis, Sepsis	ORPHA:99824
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Growth delay, Conjunctivitis, Ectropion	OMIM:278750
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short lingual frenulum, Flexion contracture, Wide nasal bridge, Feeding difficulties, Lateral ven...	OMIM:619479
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Congenital diaphr...	OMIM:122470
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Late...	OMIM:620075
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Recurrent respiratory infections, Cataract...	ORPHA:1775
Silver-Russell Syndrome 1	Downturned corners of mouth, Intrauterine growth retardation, Hepatocellular carcinoma	OMIM:180860
19P13.3 Microduplication Syndrome	Ventricular septal defect, Cleft palate, Thick vermilion border, Short philtrum, Gastroesophageal...	ORPHA:447980
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large...	OMIM:301074
Neu-Laxova Syndrome 2	Decreased fetal movement, Polyhydramnios, Edema, Cleft palate, High palate, Protuberant abdomen, ...	OMIM:616038
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, High palate, Atrial septal defect, Intrauteri...	OMIM:618142
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Atrial ...	OMIM:615996
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Pr...	OMIM:212750
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Downturned corners of mouth, Thin vermilion border, Wide mouth	OMIM:300860
Peroxisome Biogenesis Disorder 5A (Zellweger)	Feeding difficulties in infancy, High palate, Elevated gamma-glutamyltransferase level, Atrial se...	OMIM:614866
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux, Pyloric stenosis, Edema	OMIM:256300
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Joint contracture, Polyhydramnios	OMIM:618266
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Gingival overgrowth, Downturned corners of mouth, High pa...	ORPHA:46059
Native American Myopathy	Skeletal muscle atrophy, Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Cleft p...	ORPHA:168572
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow palate, Wide n...	OMIM:619312
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Polyhydramnios, Abdominal pain, Aganglionic megacol...	OMIM:155310
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Elevated c...	OMIM:615716
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, Feeding difficulties, High palate, Widely ...	OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Wide nasa...	OMIM:617061
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Hydrocephalus, Chronic diarr...	OMIM:616355
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate	OMIM:616738
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Congestive heart failure, Abnormal heart mor...	ORPHA:444077
Leukocyte Adhesion Deficiency Type Ii	Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Palpebral edema, Short statur...	ORPHA:99843
Arthrogryposis, Distal, Type 2A	Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Knee flexion contracture, High ...	OMIM:193700
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Hydrocephalus, Chylopericardium, Chyloth...	ORPHA:538
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Thin upper lip vermilion, Ventricular septal defect, Feeding difficu...	ORPHA:508488
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Feeding difficulties in infancy, Hydrocephalus, Embryonal rhabdomyosarcoma, Cle...	OMIM:257300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Long nose, Deep philtrum, F...	OMIM:309520
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Edema, Right ventricular failure,...	ORPHA:90363
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abdominal distention...	ORPHA:2088
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vomi...	OMIM:301068
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Wide nasal bridge, Thick vermilion border, Widely spaced teeth, Protuberant abdomen	OMIM:617102
Arboleda-Tham Syndrome	Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Gastroesophageal refl...	OMIM:616268
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Cleft palate, Intracranial ...	OMIM:614424
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti...	ORPHA:723
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Decreased beta-galact...	OMIM:256540
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Prader-Willi Syndrome	Decreased fetal movement, Gastroparesis, Edema, Abnormality of the dentition, Nasogastric tube fe...	ORPHA:739
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Intestinal malrotation, Downturned corners of mouth, Thin vermilion bord...	ORPHA:94063
Fg Syndrome Type 1	Premature birth, Dental crowding, Progressive flexion contractures, Abnormal large intestine morp...	ORPHA:93932
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Cach Syndrome	Decreased fetal movement, Flexion contracture, Hepatosplenomegaly, Feeding difficulties, Lateral ...	ORPHA:135
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Hypoplastic left heart, Ventricular septal defect, Cleft palate	ORPHA:2476
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory diarrhea, Cleft palate, R...	OMIM:270420
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft	ORPHA:141091
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Deep philtrum, Hypertension, Pulmonary arterial hypertension, Short nose	OMIM:613320
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal...	ORPHA:79277
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Mitral regurgitation, Short philtrum, Camptodactyly, Atrial septal def...	OMIM:301039
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Steato...	ORPHA:2070
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sinusitis, Short stature, Autoimmune hemolytic anemia, D...	OMIM:251260
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,...	ORPHA:90291
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Enl...	ORPHA:79078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Feeding d...	OMIM:301056
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Doors Syndrome	Abnormal placental membrane morphology, Short lingual frenulum, Polyhydramnios, Downturned corner...	ORPHA:79500
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Feeding difficulti...	OMIM:618775
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Elevated alkaline phosphatase of bone origin, Transient ischemic attack,...	ORPHA:51608
Galloway-Mowat Syndrome 7	Ventricular septal defect, Edema, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, S...	OMIM:618348
Wolf-Hirschhorn Syndrome	Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Cleft upper lip, Hydr...	OMIM:194190
Blomstrand Lethal Chondrodysplasia	Natal tooth, Premature birth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Protuberant abd...	ORPHA:50945
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t...	OMIM:607823
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Portal hypertension, Edema, Pericardia...	OMIM:619487
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste...	ORPHA:469
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Short nose, Thick vermilion border	ORPHA:1185
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Chronic c...	ORPHA:79330
Slc35A2-Cdg	Elevated hepatic transaminase, Thickened nuchal skin fold, Limb joint contracture, Camptodactyly ...	ORPHA:356961
Nephrotic Syndrome, Type 11	Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p...	OMIM:616730
Pseudo-Torch Syndrome 3	Hypertension, Premature birth, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nausea, Intracranial hemorrhage, H...	ORPHA:369929
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Hydrocep...	OMIM:612582
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Short stature, Neutropenia	OMIM:618752
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Whistling appearance, Narrow mouth, Elbow flexion contracture, Knee...	OMIM:277720
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasculariz...	OMIM:278730
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis, Short stature, Erythroderma	OMIM:242150
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis	OMIM:232800
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia, Stomatitis, Anemia	OMIM:246400
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Edema, Anorexia, Abdominal pain, Angioedema, Va...	ORPHA:761
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo...	ORPHA:477817
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Fetal akinesia sequence, Cardiomegaly, Long nose, Deep...	OMIM:618143
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Eyelid retraction, Lymphan...	ORPHA:182
Trisomy 20P	Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Downturned corners of mou...	ORPHA:261318
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Increased circulating myelocyt...	ORPHA:36234
Schaaf-Yang Syndrome	Decreased fetal movement, Abnormality of the philtrum, Fetal akinesia sequence, Flexion contractu...	OMIM:615547
Prolidase Deficiency	Recurrent respiratory infections, Recurrent cystitis, Splenomegaly, Crusting erythematous dermati...	ORPHA:742
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites	ORPHA:584
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Palpebral edema, Diastas...	OMIM:252500
Monosomy 13Q34	Epistaxis, Fetal pyelectasis, Hematochezia, Agenesis of corpus callosum, Prolonged prothrombin ti...	ORPHA:96168
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Anorexia, Malabsorption, Chronic di...	OMIM:557000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture, Feeding difficulties...	ORPHA:505237
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Poor...	ORPHA:247598
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Cleft lip, Pyloric st...	OMIM:619148
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Abdominal distention...	OMIM:235730
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal eyelash morphology,...	ORPHA:2273
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Cardiomegaly, Gastrointestinal dysmotility...	ORPHA:391428
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham...	OMIM:174300
Trichothiodystrophy 1, Photosensitive	Cataract, Short stature, Dry skin, Recurrent infections, Microcornea, Keratoconjunctivitis sicca,...	OMIM:601675
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Facial hypotonia, Hydrocephalus, Chronic constipation, Open mouth, Ag...	OMIM:616362
Inflammatory Bowel Disease 28, Autosomal Recessive	Enterocolitis, Oral ulcer, Hematochezia, Colitis, Crohn's disease	OMIM:613148
Congenital Disorder Of Glycosylation, Type Iim	Exaggerated cupid's bow, Wide nasal bridge, Hypertension, Lateral ventricle dilatation, Fused tee...	OMIM:300896
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture, Protuberant abdomen	OMIM:613330
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Cataract, Severe B lymphocytopenia, Thrombocyt...	OMIM:620005
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Redundant skin, Adrenal hypoplasia, Recurrent pneumonia, Cutis laxa, Growth del...	OMIM:613177
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Dental malocclusion, Wide nasal bridge, Feeding ...	OMIM:601390
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Thin upper lip vermilion, Abnormal circulating enzyme concentration or ...	ORPHA:572798
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Reduced beta-hexosaminidase activ...	OMIM:268800
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis, Cleft palate	OMIM:618265
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum	ORPHA:398156
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Feeding difficulties in infancy, Nasogastr...	ORPHA:565624
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Ventriculomegaly, Diastasis recti, Short nose, Feeding difficulties, Wi...	OMIM:616638
Kinsship Syndrome	Thin upper lip vermilion, Ventriculomegaly, Thick lower lip vermilion, Gingival overgrowth, Downt...	OMIM:619297
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Erythema, Cheilitis, Inflammation of the large intest...	ORPHA:2908
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Hip contracture, Facial hypotonia, Feeding difficulties, Short philtrum...	OMIM:616801
Short Syndrome	Delayed eruption of teeth, Dental malocclusion, Wide nasal bridge, Downturned corners of mouth, H...	OMIM:269880
Greenberg Dysplasia	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I...	OMIM:215140
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Polyhydramnios, High, narrow palate, Mitral valve prolaps...	OMIM:619745
Cerebrooculonasal Syndrome	Ventriculomegaly, Hydrocephalus, Short nose, Narrow palate, Cleft palate, Downturned corners of m...	OMIM:605627
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen...	OMIM:618870
Digeorge Syndrome	Impaired T cell function, Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop...	OMIM:188400
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Total anomalous p...	ORPHA:261183
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion, Shor...	OMIM:300558
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Cleft ...	OMIM:605039
Bohring-Opitz Syndrome	Ventriculomegaly, Facial hypotonia, Cardiomegaly, Feeding difficulties in infancy, Cleft lip, Bil...	ORPHA:97297
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ventricular septal defect, Prem...	OMIM:619229
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Dysplastic corpus callosum, Orofacial cleft, C...	ORPHA:2328
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Loss of eyelashes, Keratocon...	ORPHA:95159
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Agenesis ...	OMIM:301043
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Agenesis of corpus callosum, Ventricu...	OMIM:218350
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet vol...	OMIM:617718
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia	ORPHA:309854
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Alg2-Cdg	Hepatomegaly, Lateral ventricle dilatation, Wide nasal bridge, Abnormal circulating enzyme concen...	ORPHA:79326
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Cleft palate,...	OMIM:255995
Transketolase Deficiency	Cataract, Proportionate short stature, Seborrheic dermatitis, Uveitis, Conjunctivitis, Type I dia...	ORPHA:488618
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, High, narrow palate, Hydrocephalus, Feeding difficulties, Hematochezia...	OMIM:619575
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Cleft palate, Mitral regurgitation, Thin vermili...	ORPHA:254346
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Splenomegaly, Hydrocephalus, Flexion co...	ORPHA:581
20Q13.33 Microdeletion Syndrome	Facial hypotonia, Abnormal cardiac ventricle morphology, Hematochezia, Thin vermilion border, Atr...	ORPHA:261311
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Edema, Malabsorption, Splenomegaly, Join...	ORPHA:2796
Acrogeria	Excessive wrinkled skin, Short stature, Skin ulcer	ORPHA:2500
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Aplasia Cutis-Myopia Syndrome	Meningitis, Skin ulcer	ORPHA:1117
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Feeding ...	OMIM:619769
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Intrauterine growth retardation, Tr...	ORPHA:2516
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial s...	OMIM:243800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Gastrointestinal dysmotility, Wide nasal bridge, Feeding difficulties, ...	ORPHA:466943
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Ventricular septal defect, Malabsorption, Agenesis of corpus callosum, Ven...	ORPHA:452
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Gastroesophageal refl...	ORPHA:494344
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Thick vermilion ...	ORPHA:46627
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension ...	OMIM:105210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr...	OMIM:603387
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Diastasis recti, Spleno...	OMIM:608149
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ...	ORPHA:1692
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions	ORPHA:1059
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Dental malocclusion, Wide nasal bridge, Feeding ...	OMIM:615546
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the gr...	OMIM:306955
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Pneumonia, Leukocytosis, Severe infection, Sepsis, Acute infecti...	ORPHA:36238
Reynolds Syndrome	Skin rash, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Feeding difficulties in infancy, Downturned corners of mouth, Wi...	ORPHA:199
Joubert Syndrome 36	Open mouth	OMIM:618763
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesop...	OMIM:115150
Synaptic Congenital Myasthenic Syndromes	Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Scapular winging,...	ORPHA:98915
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Lack of skin elasticity, Kera...	ORPHA:81
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Central Neurocytoma	Nausea and vomiting, Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Dental malocclusion, Wide mouth, Th...	OMIM:610733
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Polyhydramnios, Ed...	OMIM:267000
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Wide nasal bridge, Wide mouth, Thick vermilion bor...	ORPHA:1517
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Abnormality of mouth shape	ORPHA:83619
3Mc Syndrome 2	Torticollis, Diastasis recti, Hypoplasia of the musculature, Cleft upper lip, Partial abdominal m...	OMIM:265050
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Feeding difficulties in infancy, Flexion contracture, Lower limb muscle weakness, H...	ORPHA:365
Adult Syndrome	Absent nipple, Eczema, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Dry sk...	OMIM:103285
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Ventricular tachycardi...	OMIM:300952
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anomalous pulmonary v...	OMIM:617478
Sotos Syndrome	Decreased fetal movement, Ventricular septal defect, High, narrow palate, Muscular ventricular se...	OMIM:117550
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Wide nasal bridge, Cleft palate, Downturned corners of mouth, High palat...	OMIM:614230
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Downturned corners of mouth, ...	OMIM:615510
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Wide...	OMIM:300000
Zellweger Syndrome	Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Premature birth, Malabsorpti...	ORPHA:912
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Premature birth, Polyhydramnios, Hydrocephalus, Fetal pericardial effu...	OMIM:219730
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Deep philtrum, Wide nas...	OMIM:158170
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Torticollis, Submucous cleft hard palate	OMIM:619680
Coffin-Lowry Syndrome	Delayed eruption of teeth, Skeletal muscle atrophy, Ventriculomegaly, Abnormal dental morphology,...	ORPHA:192
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Wide nasal bridge, Feeding difficulties, Downturned corners of mouth, L...	OMIM:616728
Prune Belly Syndrome	Ventricular septal defect, Intestinal malrotation, Aplasia of the abdominal wall musculature, Int...	ORPHA:2970
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ...	OMIM:616789
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Gastrostomy tube feeding in...	ORPHA:263487
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Poor appetite, Malab...	OMIM:227810
Crouzon Syndrome	Keratitis, Conjunctivitis, Dysgerminoma, Shallow orbits	OMIM:123500
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278740
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,...	ORPHA:565
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Breech presentation, Lateral ventricle dilatation, Poor suck, Gastrostomy tube feeding in infancy	OMIM:618890
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip vermilion, ...	ORPHA:2058
Bone Marrow Failure Syndrome 3	Exocrine pancreatic insufficiency, Oral ulcer, Feeding difficulties, Downturned corners of mouth,...	OMIM:617052
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Cleft palate	OMIM:601355
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Partial agenesis of the corpus callosum, Fe...	OMIM:619517
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Long nose, Feeding difficulties, Myopathy, Open mouth	ORPHA:85329
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Wide n...	OMIM:619950
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Intraut...	ORPHA:1923
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen, Enlarged kidney	OMIM:618272
Trichinellosis	Skin rash, Increased circulating IgE level, Central retinal artery occlusion, Anisocoria, Conjunc...	ORPHA:863
Meckel Syndrome, Type 4	Ventricular septal defect, Hydrocephalus, Cleft palate, Bile duct proliferation, Atrial septal de...	OMIM:611134
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Feeding difficulties, Gastroesophageal ref...	OMIM:614961
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Dehydration, Hype...	OMIM:263200
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Atrial septal defect, Intrauteri...	ORPHA:290
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Band Heterotopia	Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:600348
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Retinal arterial occlusion, Arthritis, Coombs-positive hemolytic anemia,...	ORPHA:464343
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Lower limb amyotrophy, Limb hypertonia	ORPHA:401815
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Wide nasal bri...	OMIM:145420
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Feeding difficulties, High palate, Short philtrum, Tetralogy of Fallot	ORPHA:3306
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Biotinidase Deficiency	Skin rash, Recurrent viral infections, Recurrent candida infections, Conjunctivitis, Recurrent fu...	ORPHA:79241
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Cleft soft palate, Cleft lip, Wide nasal br...	ORPHA:124
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Splenomegaly, Vasculi...	OMIM:615846
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:300998
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Narrow mouth	OMIM:245552
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Tented upper lip vermilion, Wide nasal bridge, Feeding difficulties, High palate, Open mouth	OMIM:616158
Intellectual Developmental Disorder, X-Linked 103	Wide mouth, Lateral ventricle dilatation	OMIM:300982
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Wide nasal bridge, Hypertension, Cerebral ischemia, Protuberant abdome...	OMIM:242900
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Aplasia of the thymus	ORPHA:3004
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Cleft palate, Atrial septal defect, Short nose, Patent foramen ovale, ...	OMIM:614261
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor...	OMIM:148210
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Polyembryoma	Abdominal distention, Abnormal onset of bleeding, Abdominal pain	ORPHA:180229
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Inflammation of the large intesti...	ORPHA:79259
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Skin ulcer, Erythroderma	ORPHA:312
2Q37 Microdeletion Syndrome	Downturned corners of mouth, Pyloric stenosis, Thin vermilion border, Congenital diaphragmatic he...	ORPHA:1001
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Gastroesophageal reflux, Dysphagia, Int...	OMIM:619909
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D...	ORPHA:263665
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo...	OMIM:175500
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit...	ORPHA:71272
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Feeding difficulties in infancy, Pierre-Robin sequence, Wide nasal brid...	OMIM:611209
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition, Downturned corner...	ORPHA:284160
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Al-Gazali-Bakalinova Syndrome	Triangular mouth, Agenesis of corpus callosum, Wide nasal bridge, Lymphedema	OMIM:607131
Smith-Magenis Syndrome	Decreased fetal movement, Ventriculomegaly, Tented upper lip vermilion, Delayed eruption of prima...	ORPHA:819
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Open mouth, Flexion contr...	ORPHA:258
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties,...	OMIM:616652
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Feeding difficulties in infanc...	OMIM:610443
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Flexion contracture, Wide nasal bridge, Feeding difficulties, Camptodactyly, High pa...	ORPHA:562528
Acute Liver Failure	Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Jaundice, D...	ORPHA:90062
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:609654
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased fetal movement, Thin upper lip vermilion, Gastroparesis, Feeding difficulties in infanc...	ORPHA:177901
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Fee...	OMIM:617506
Pseudohypoparathyroidism Type 1B	Cataract, Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathy...	ORPHA:94089
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Premature rupture of membranes, Oligodontia, Widely spaced teeth, Gastroesop...	OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Diastasis recti, Feeding ...	OMIM:616579
Diabetic Embryopathy	Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, C...	ORPHA:1926
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Camptodactyly of finger, Long nose, Orofacial cleft, Feeding difficultie...	ORPHA:261211
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Tented upper lip vermilion, Tricuspid regurgitation, Feeding difficulties, Colp...	OMIM:618460
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, Ventricular septal defect, Premature birth, Microvesicular hepatic steatosis, Splen...	OMIM:619418
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau...	OMIM:613404
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Hydrocephalus, Wide nas...	ORPHA:1908
Squamous Cell Carcinoma Of The Anal Canal	Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi...	ORPHA:424019
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Feeding difficulties, Lateral ventricle dilatation, High palate, Shor...	OMIM:614105
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Hepatomegaly, Thin vermilion border, Abdominal distention	OMIM:602557
Developmental And Epileptic Encephalopathy 61	Thick vermilion border, High palate, Open mouth	OMIM:617933
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Tooth malposition, Elbow flexion contracture...	OMIM:608328
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Sim1-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Xerostomia, Downturned corners of mouth, Ventriculomegaly, Nasogastric ...	ORPHA:398079
Diarrhea 1, Secretory Chloride, Congenital	Premature birth, Polyhydramnios, Abdominal distention, Secretory diarrhea, Dehydration	OMIM:214700
Ogden Syndrome	Everted upper lip vermilion, Torticollis, Ventricular septal defect, High, narrow palate, Cardiog...	ORPHA:276432
Von Hippel-Lindau Disease	Myocarditis, Polycythemia	ORPHA:892
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased fetal movement, Gastroparesis, Feeding difficulties in infancy, Postterm pregnancy, Ped...	ORPHA:98754
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278720
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Gastroesophageal reflu...	ORPHA:466791
Epidermolysis Bullosa Simplex With Pyloric Atresia	Polyhydramnios, Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pylo...	ORPHA:158684
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentition, Short nose, Gingival over...	OMIM:618529
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Deep philtrum, Feeding difficulties, Wide mouth, Colpocephaly, Mitral stenosis,...	OMIM:617260
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Decreased muscle mass, Hypertensi...	OMIM:232200
Hypotonia, Ataxia, And Delayed Development Syndrome	Decreased fetal movement, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Dow...	OMIM:617330
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, High, narrow pala...	ORPHA:464738
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, Right ventricular di...	OMIM:619472
Aortic Valve Disease 1	Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou...	OMIM:109730
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Diar...	ORPHA:913
Fibrochondrogenesis 2	Short nose, Protuberant abdomen	OMIM:614524
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Infantile Systemic Hyalinosis	Severe short stature, Skin ulcer, Polycystic ovaries, Growth delay, Recurrent bacterial infection...	ORPHA:2176
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased fetal movement, Gastroparesis, Feeding difficulties in infancy, Postterm pregnancy, Ped...	ORPHA:98793
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Patent foramen ovale, Colpocephaly, Atrial septal defect, Intrauterine...	OMIM:609053
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph...	OMIM:612530
Cohen Syndrome	Decreased fetal movement, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodonti...	ORPHA:193
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased fetal movement, Gastroparesis, Feeding difficulties in infancy, Postterm pregnancy, Ped...	ORPHA:177904
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis	OMIM:217090
Alg12-Cdg	Recurrent respiratory infections, Epicanthus, Decreased serum insulin-like growth factor 1, Redun...	ORPHA:79324
Buerger Disease	Skin ulcer	ORPHA:36258
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Pursed lips, Hip contracture, Elbow flexion contracture, Wide nasal bridge, Knee flexion contract...	OMIM:616266
Incontinentia Pigmenti	Cataract, Corneal opacity, Skin rash, Short stature, Eosinophilia, Keratitis, Retinal vascular pr...	ORPHA:464
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly, Ventriculomegaly, Limb hypertonia	OMIM:620306
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abscess formation, P...	OMIM:619381
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Elevated circulating alkaline phosph...	OMIM:277440
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, S...	OMIM:619103
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Feeding difficulties in infancy, Cleft lip, Cleft palate, Pulmonic ste...	OMIM:619123
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Ventricular septal defect, Abnormal dental...	ORPHA:1458
Donnai-Barrow Syndrome	Short nose, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia	ORPHA:2143
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum	OMIM:619972
Flynn-Aird Syndrome	Cataract, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Type II di...	ORPHA:2047
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Peritonitis, Bidirectional shunt, Elevated pulmonary artery ...	OMIM:619351
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,...	ORPHA:244
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Acrocardiofacial Syndrome	Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Cleft upper lip, Feeding ...	ORPHA:2008
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Hepatic fibrosis, Intractable diarrhea, Bifid uvula, Hepatomegal...	OMIM:222470
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Low cholesterol esterification rate, Splenomegaly, Jaundice, Aplasia...	ORPHA:646
Postinfectious Vasculitis	Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B...	ORPHA:48435
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hypo...	OMIM:616260
Brooke-Spiegler Syndrome	Salivary gland neoplasm, Skin ulcer, Abnormality of the sublingual glands, Abnormality of the sub...	ORPHA:79493
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Abdominal pain,...	OMIM:229600
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nippl...	ORPHA:69085
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Ventricular septal defect, Narrow mouth, Wide nasal bridge, High palate...	OMIM:270450
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,...	OMIM:616564
De Sanctis-Cacchione Syndrome	Severe short stature, Entropion, Keratitis, Bilateral cryptorchidism, Conjunctivitis, Ectropion	OMIM:278800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu...	OMIM:615219
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental maloccl...	OMIM:613680
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Abnormal bleeding, Hepato...	ORPHA:480520
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Pursed lips, Aglossia	OMIM:241310
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S...	ORPHA:91500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Short stature, Aplasia of the thymus, Decreased response to growt...	OMIM:618223
Treacher-Collins Syndrome	Thyroid hypoplasia, Cataract, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid coloboma, A...	ORPHA:861
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis	OMIM:615560
Familial Visceral Myopathy	Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Aplasia/Hypoplasia of the a...	ORPHA:2604
Holoprosencephaly 5	Hydrocephalus, Deep philtrum, Orofacial cleft, Lateral ventricle dilatation, High palate	OMIM:609637
Cohen Syndrome	Facial hypotonia, Feeding difficulties in infancy, High, narrow palate, Mitral valve prolapse, Sh...	OMIM:216550
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Recurrent respiratory infections, Cataract, Entropion, Sparse eyelashes, Pneumoni...	OMIM:264090
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, High, narrow palat...	OMIM:218330
Filippi Syndrome	Ventricular septal defect, Wide nasal bridge, Thin vermilion border, Short philtrum, Intrauterine...	ORPHA:3255
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Pseudohypoparathyroidism Type 1A	Cataract, Short stature, Decreased response to growth hormone stimulation test, Reduced circulati...	ORPHA:79443
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Gingival overgrowth, Dehydration, Macroglo...	ORPHA:96191
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Polyhydramnios, Breech present...	OMIM:615485
Char Syndrome	Triangular mouth, Short philtrum	OMIM:169100
Seckel Syndrome 9	Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her...	OMIM:616777
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Erythema, Cheili...	ORPHA:1334
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Polyhydramnios, Oral mucosal blisters, Abdominal distention, Congenital pylo...	ORPHA:79403
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Cleft palate, Feeding difficulties, Skeletal muscle hypertrophy, High ...	OMIM:617164
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Pseudohypoparathyroidism Type 1C	Cataract, Short stature, Decreased response to growth hormone stimulation test, Reduced circulati...	ORPHA:79444
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Gingival overgrowth, Feeding difficulties, Colpocephaly, Constipation, Tube fe...	OMIM:620352
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Hydrocephalus, Flexion contracture, Downturned corners...	OMIM:619321
Progeroid Short Stature With Pigmented Nevi	Cataract, Short stature, Allergic rhinitis, Impaired T cell function, Recurrent viral infections,...	OMIM:176690
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip	OMIM:601357
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arthritis, ...	ORPHA:29207
Proteus Syndrome	Splenomegaly, Open mouth	OMIM:176920
Melanocytic Nevus Syndrome, Congenital	Deep philtrum, Everted lower lip vermilion, Long philtrum, Short nose, Open mouth	OMIM:137550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon, Polyhydramnios	OMIM:619362
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana...	OMIM:618183
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema, Dental malocclusion, Wide nasal bridge, F...	OMIM:606232
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Abdominal distention, Rectal prolapse, M...	ORPHA:508
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c...	OMIM:618914
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Feeding difficulties in infancy, Esophageal atresia, Deep philtrum, Cl...	OMIM:610536
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of mouth, Feeding dif...	ORPHA:488642
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Eczema, Absent eyelashes, Conjunctival hyperemia, Dry skin	ORPHA:2890
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, A...	OMIM:617667
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Phocomelia, Schinzel Type	High, narrow palate, Tracheoesophageal fistula, Hydrops fetalis, Cleft palate, Intrauterine growt...	ORPHA:2879
Intellectual Developmental Disorder, X-Linked 21	Open mouth, Tented upper lip vermilion, Dental crowding, Short nose	OMIM:300143
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Open mouth, High palate, Cleft palate	OMIM:620021
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Decreased fetal movement, Dental crowding, Congestive heart failure,...	OMIM:225400
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Intr...	ORPHA:75389
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Camptodactyly of finger, Open bite, High, narrow palate, Abnormality...	ORPHA:3107
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Microcornea, Growth delay, Keratoconjunctivitis sicca	OMIM:234050
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Communicating hydrocephalus	ORPHA:1064
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Lower limb hyperton...	OMIM:169400
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Paradoxical incre...	ORPHA:96253
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, High palate, Gastroesop...	OMIM:300373
Martsolf Syndrome 2	Lateral ventricle dilatation, Camptodactyly of finger, Camptodactyly	OMIM:619420
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Ventricular septal defect, Patent foramen ovale, Wide nasal bridge...	OMIM:613457
Maternal Phenylketonuria	Ventricular septal defect, Esophageal atresia, Wide nasal bridge, Abnormal heart morphology, Hypo...	ORPHA:2209
Lichen Planopilaris	Pterygium, Hepatitis, Skin ulcer	ORPHA:525
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio...	OMIM:605275
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Cleft palate	ORPHA:2345
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Cardiomegaly, Esophageal atresia, Partial anomalous p...	ORPHA:95430
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Long nose, Cholestasis, Hype...	ORPHA:52
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Short philtrum, A...	ORPHA:96334
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit...	OMIM:121050
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Clef...	OMIM:244300
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Feeding difficulties	OMIM:617668
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen, Cleft palate	OMIM:184250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t...	ORPHA:251028
Blau Syndrome	Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Abnormal retinal vascul...	ORPHA:90340
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Carious teeth, Thin vermilion border, Aplasia/Hypoplasia...	ORPHA:96097
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Single u...	OMIM:300514
Yunis-Varon Syndrome	Thin upper lip vermilion, Ventricular septal defect, Premature birth, Polyhydramnios, Premature l...	OMIM:216340
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Proximal amyot...	ORPHA:653
Sarcoidosis	Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidism, Hemoly...	ORPHA:797
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Vomiting	ORPHA:77299
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Noonan Syndrome 9	Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Opsismodysplasia	Polyhydramnios, Edema, Protuberant abdomen, Long philtrum, Short nose, Oligohydramnios	OMIM:258480
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Keratoconjunctivitis sicca, Breast aplasia, Dry skin, Inflammatory abnormality...	ORPHA:238468
Hemorrhagic Fever-Renal Syndrome	Intracranial hemorrhage, Vomiting, Ecchymosis, Nausea, Internal hemorrhage, Abdominal pain, Hypot...	ORPHA:340
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Ventricular septal defect, Premature birth, Large plac...	ORPHA:1708
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Ventriculomegaly, Ventricular septal defect, Congenital diaphragma...	ORPHA:2745
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, High palate, Pulmonic stenosis,...	OMIM:609942
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Ventricular septal defec...	OMIM:615673
Bilateral Generalized Polymicrogyria	Oral-pharyngeal dysphagia, Feeding difficulties, Lateral ventricle dilatation, Gastroesophageal r...	ORPHA:208447
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela...	ORPHA:79280
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Carious teeth, Long nose, Wide nasal bridge, Feeding difficulties, Dow...	OMIM:619522
Warsaw Breakage Syndrome	Ventricular septal defect, Wide mouth, High palate, Intrauterine growth retardation, Tetralogy of...	OMIM:613398
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis	ORPHA:309031
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiectasis, Keratocon...	ORPHA:79128
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Agenesis of corpus callosum, Ventricular septal defect, Wide nasal bridge, Feeding difficulties	OMIM:620073
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Fucosidosis	Hepatomegaly, Decreased muscle mass, Abnormality of the dentition, Cardiomegaly, Abnormality of t...	ORPHA:349
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno...	OMIM:619657
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Thyroid Ectopia	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95712
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Feeding difficulties, Wide mouth, Thin vermilion border, Solitary medi...	ORPHA:217346
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Macrodontia, Everted lower lip vermilion, Constipation, Open mouth	ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Increased overbite	OMIM:618504
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Congenital p...	OMIM:611812
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular...	ORPHA:70591
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Polyhydramnios, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion border, High palate...	OMIM:614080
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Long nose, Thick vermilion border, Everted lower lip vermilion, High p...	OMIM:615866
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Illum Syndrome	Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia, Arthrogryposis multiplex co...	OMIM:208155
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Severe short stature, Abnormal eye...	ORPHA:2526
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Short stature, Decreased response to growth hormone stimulation test, Growth delay, Cen...	OMIM:616007
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Granuloma, Abnormality of the ...	ORPHA:68
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Gabriele-De Vries Syndrome	Facial hypotonia, Abnormality of the dentition, Thick lower lip vermilion, Pierre-Robin sequence,...	OMIM:617557
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal amyotrophy, Lateral ventricle dilatation, Vomiting, Facial palsy	OMIM:256850
Wiedemann-Rautenstrauch Syndrome	Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature...	ORPHA:3455
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Hi...	OMIM:300963
X Small Rings	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Fe...	ORPHA:96201
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Chapped lip, Edema, Anorexia, Hematemesis, Splenome...	ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Chronic constipation, High palate, Agenesis of corpus callosum, Bifid ...	OMIM:300472
Fraser Syndrome 2	Hypoplasia of the thymus, Cryptophthalmos	OMIM:617666
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Ocular albinism, Skin ulcer	ORPHA:352723
Robinow Syndrome	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Dental malocclusion, Gi...	ORPHA:97360
Distal Deletion 10Q	Thin upper lip vermilion, Scapular winging, Premature birth, Wide nasal bridge, Cleft palate, Fee...	ORPHA:96148
Peutz-Jeghers Syndrome	Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnormality, Multiple gastric pol...	OMIM:175200
Calciphylaxis	Skin ulcer, Sepsis, Secondary hyperparathyroidism	ORPHA:280062
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Wide nasal b...	OMIM:601186
Coffin-Siris Syndrome	Delayed eruption of teeth, Atrial septal defect, Thin upper lip vermilion, Dandy-Walker malformat...	ORPHA:1465
Brachydactyly, Type B1	Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular septal defect, Ca...	OMIM:113000
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Subvalvular aortic stenosis, Severe intrauterine...	OMIM:614114
Pancreatoblastoma	Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting	ORPHA:677
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mo...	OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal d...	OMIM:619306
X-Linked Intellectual Disability, Armfield Type	Cleft palate, Downturned corners of mouth, Wide mouth, Abnormal cardiac septum morphology, Short ...	ORPHA:85276
Spondylo-Ocular Syndrome	Facial hypotonia, Thin vermilion border, Ventricular septal defect, Long philtrum	ORPHA:85194
Marshall-Smith Syndrome	Ventriculomegaly, Protruding tongue, Gingival overgrowth, Open mouth, Bruising susceptibility, Sh...	ORPHA:561
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Intestinal malrotation, Di...	OMIM:244450
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Hi...	ORPHA:2463
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa...	ORPHA:2461
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Elevated circulating alkaline phosphatase concentration, Enamel hypopl...	OMIM:264700
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Congenital diaphragmatic h...	OMIM:618454
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Open mouth, Wide nasal bridge	OMIM:600906
Dworschak-Punetha Neurodevelopmental Syndrome	Microdontia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera...	OMIM:608670
Cat Eye Syndrome	Meckel diverticulum, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Rectal at...	OMIM:115470
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno...	ORPHA:329971
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, Lateral ventricle dilat...	OMIM:617296
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, ...	OMIM:615582
Hereditary Acrokeratotic Poikiloderma	Short stature, Eczema, Pustule, Erythema, Skin ulcer, Keratoconjunctivitis, Opacification of the ...	ORPHA:2907
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum, High palate, Ventricular septal defect, Cleft palate	ORPHA:52055
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Petechiae, Orchit...	ORPHA:99826
Adams-Oliver Syndrome 2	Decreased fetal movement, Hydrocephalus, Oligohydramnios, Lateral ventricle dilatation, Limb hype...	OMIM:614219
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced ...	OMIM:301040
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis	OMIM:609536
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Protuberant abdomen, Stillbirth, Polyhydramnios	OMIM:151210
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Partial agene...	OMIM:222448
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Wide nasal bridge, Cleft palate, Wide mouth, Olig...	OMIM:272950
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Agenesis...	ORPHA:77298
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the gallbladder, Orthostatic...	ORPHA:309271
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Dental malocclusion, Alveolar ridge overgrowth...	ORPHA:444072
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Ec...	ORPHA:83617
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Ventricular septal defect, Heart murmur, Feeding difficulties	ORPHA:166035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Fe...	ORPHA:254528
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Malan Overgrowth Syndrome	Feeding difficulties in infancy, Lateral ventricle dilatation, High palate, Narrow mouth, Ventric...	ORPHA:420179
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:280000
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Paroxysmal Hemicrania	Diabetes mellitus, Palpebral edema, Rhinitis, Conjunctival hyperemia, Ptosis	ORPHA:157835
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Thin upper lip vermilion, Ventricular septal defect, Premature birth, Bowel...	ORPHA:261330
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Cholecystitis	ORPHA:309256
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal...	OMIM:600001
Lissencephaly 9 With Complex Brainstem Malformation	Feeding difficulties, Ventricular septal defect, Dysphagia	OMIM:618325
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Holoprosencephaly 14	Ventriculomegaly, Median cleft lip, Ventricular septal defect, Aqueductal stenosis, Cleft lip, Pa...	OMIM:619895
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Anorexia, Hematemesis, Jaundice, Retinal hemorr...	ORPHA:319251
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble...	OMIM:614328
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca...	OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, F...	OMIM:613154
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Feeding dif...	ORPHA:1199
Atelosteogenesis Type Ii	Thin upper lip vermilion, Bilateral cleft palate, Polyhydramnios, Elbow flexion contracture, Clef...	ORPHA:56304
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Narrow mouth, Hydrocephalus...	OMIM:245600
Atelosteogenesis, Type I	Premature birth, Polyhydramnios, Cleft palate, Stillbirth, Protuberant abdomen, Neonatal death, S...	OMIM:108720
Radio-Renal Syndrome	Downturned corners of mouth, High, narrow palate, Pleural effusion, Chylothorax	ORPHA:3015
Abetalipoproteinemia	Reticulocytosis, Acanthocytosis, Keratoconjunctivitis sicca, Corneal ulceration, Hypothyroidism, ...	ORPHA:14
Polyarteritis Nodosa	Pericarditis, Erythema, Skin ulcer	ORPHA:767
Jacobsen Syndrome	Ventriculomegaly, Ventricular septal defect, Premature birth, Intestinal malrotation, Feeding dif...	ORPHA:2308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Cleft upper lip, Congenital hepatic fibrosis, Abdominal distention, Esophageal ...	ORPHA:93271
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricular canal defect,...	OMIM:264480
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft ...	ORPHA:251038
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Abnormal eyelid m...	ORPHA:221
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Hepatosplenomegaly	ORPHA:93352
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Meningitis, Arthri...	OMIM:249100
Branchioskeletogenital Syndrome	Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate...	ORPHA:1299
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Recu...	ORPHA:99921
Lysinuric Protein Intolerance	Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepa...	ORPHA:470
Pyknoachondrogenesis	Abdominal distention, Muscular edema, Abnormality of mouth shape, Palpebral edema	ORPHA:3003
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Erythermalgia, Primary	Keratoconjunctivitis sicca	OMIM:133020
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Dandy-Walker malformation	OMIM:616901
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Skeletal muscle atrophy, Hip contracture, Shoulder flexion contracture, Quadriceps m...	OMIM:255800
C Syndrome	Hepatomegaly, Ventricular septal defect, Accessory oral frenulum, Wide nasal bridge, Wide mouth, ...	OMIM:211750
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble...	ORPHA:98870
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Facial erythema, Ptosis	ORPHA:57145
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
14Q22Q23 Microdeletion Syndrome	Downturned corners of mouth, Decreased fetal movement, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:264200
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Atrial septal defect, Agenesis of corpus callosum, Da...	OMIM:229850
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis...	ORPHA:171
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her...	OMIM:614294
Infant Botulism	Chronic otitis media, Keratoconjunctivitis sicca, Mydriasis, Ptosis	ORPHA:178478
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
Bainbridge-Ropers Syndrome	Dental crowding, Feeding difficulties in infancy, High, narrow palate, Long nose, Everted lower l...	ORPHA:352577
Pitt-Hopkins Syndrome	Fetal nuchal edema, Deep philtrum, Wide nasal bridge, Wide mouth, Short philtrum, Widely spaced t...	OMIM:610954
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemi...	ORPHA:96123
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Tented upper lip vermilion, Dysplastic corpus callosum, Hydrocephalus, Short ph...	OMIM:617281
Cockayne Syndrome	Cataract, Severe short stature, Diabetes mellitus, Band keratopathy, Postnatal growth retardation...	ORPHA:191
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Wide nasal bridge, Oligod...	OMIM:609460
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Cleft palate	ORPHA:1770
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Feeding difficulties in infancy, Episodic vomit...	OMIM:618748
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Feeding difficulties, Thick vermilion border, Gastroesophageal reflux, Macrodontia of permanent m...	OMIM:620114
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Cleft lip, Hydroceph...	ORPHA:2369
African Trypanosomiasis	Pericarditis, Keratitis, Myocarditis, Splenomegaly, Abnormality of the endocrine system, Hepatosp...	ORPHA:3385
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Recurrent pharyngitis, Mediastinal lymphadenopathy, Skin ulcer,...	ORPHA:397
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Werner Syndrome	Cataract, Short stature, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Thyroid carcinoma...	ORPHA:902
Beckwith-Wiedemann Syndrome	Splenomegaly, Polycythemia, Cryptorchidism	ORPHA:116
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Bradycardia	OMIM:218700
Neu-Laxova Syndrome 1	Polyhydramnios, Fetal akinesia sequence, Swollen lip, Neonatal death, Agenesis of corpus callosum...	OMIM:256520
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect, Feeding difficulties	OMIM:617516
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Keratoconjunctivitis sicca, Downslanted palpebral fissures, Ecto...	OMIM:616914
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Tented upper lip vermilion, Ventricular septal defect, Diastasis recti, ...	ORPHA:488632
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co...	ORPHA:506
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal de...	OMIM:619488
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ul...	ORPHA:2072
Atresia Of Urethra	Ascites, Pulmonary insufficiency, Abdominal distention, Oligohydramnios	ORPHA:105
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Flexion contracture, Knee flexion contracture, Short phi...	OMIM:210710
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Macrodo...	ORPHA:364028
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Lateral ventricle dilatation, High palate, ...	OMIM:619244
Laurin-Sandrow Syndrome	Downturned corners of mouth, Hydrocephalus	ORPHA:2378
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Yellow Fever	Abnormal bleeding, Shock, Elevated circulating aspartate aminotransferase concentration, Supraven...	ORPHA:99829
Mend Syndrome	Thickened nuchal skin fold, Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart m...	ORPHA:401973
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Cholecystitis	ORPHA:309263
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Breech presentation, Feeding difficulties, Lateral ventricle dilatation, Dysphagi...	OMIM:619847
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, ...	OMIM:618278
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ventriculomegaly, Protruding tongue, Upper eyelid edema, Feeding difficulties, Everted lower lip ...	OMIM:617804
3Mc Syndrome	Downturned corners of mouth, Diastasis recti, Orofacial cleft	ORPHA:293843
Floating-Harbor Syndrome	Thin upper lip vermilion, Carious teeth, Celiac disease, Downturned corners of mouth, Wide mouth,...	OMIM:136140
Brachytelephalangic Chondrodysplasia Punctata	Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Increased nucha...	ORPHA:79345
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Bowel incontinence, Long nose, Flexion contracture, Dysphagia, Open mouth	OMIM:300243
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, D...	OMIM:230900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Feingold Syndrome 1	Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Jejunal ...	OMIM:164280
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Agen...	OMIM:613001
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal dental morphology, Ventricular septal defect, Telangiectasia of t...	ORPHA:2092
Glycerol Kinase Deficiency	Downturned corners of mouth, Myopathy, Episodic vomiting, Muscular dystrophy	OMIM:307030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Feedi...	ORPHA:464311
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol...	ORPHA:90038
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Downturned corners of mouth, Thin upper lip vermilion, Bilateral camptodactyly	OMIM:619557
Kagami-Ogata Syndrome	Pursed lips, Premature birth, Diastasis recti, Polyhydramnios, Large placenta, Feeding difficulti...	ORPHA:254519
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Polyhydramnios, Congenital diaphragmatic hernia, High, narrow palate, Atrial...	ORPHA:373
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Abnormal dental morphology...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Abnormal dental morphology...	ORPHA:363958
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cryptorchidism, Infectious encephalitis, Abnormal hemoglobin, Anemia	ORPHA:847
Intellectual Developmental Disorder, Autosomal Dominant 38	Tented upper lip vermilion, Downturned corners of mouth, Ventouse delivery, High palate, Everted ...	OMIM:616393
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Bree...	OMIM:214100
Smith-Lemli-Opitz Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Gastroesophagea...	ORPHA:818
Codas Syndrome	Delayed eruption of teeth, Ventricular septal defect, Polyhydramnios, Gastroesophageal reflux, Re...	OMIM:600373
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Feeding difficulties in ...	ORPHA:570
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis,...	ORPHA:1855
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Dental crowding, Abnormality of the dentition, Gingi...	ORPHA:769
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Truncus arteriosus, Ventri...	ORPHA:508498
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Thick lower lip vermilion, Flexion contracture, Macrogl...	OMIM:230000
Carpenter Syndrome 1	Ventricular septal defect, Persistence of primary teeth, Agenesis of permanent teeth, Joint contr...	OMIM:201000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Omphalocele Syndrome, Shprintzen-Goldberg Type	Thin upper lip vermilion, Feeding difficulties in infancy, Chronic diarrhea, Downturned corners o...	ORPHA:3164
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Redundant skin, Bilateral ptosis, Cryptorchidism, Keratoconjunctivitis sicca, ...	ORPHA:536532
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Nasogast...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Feeding difficulties in infancy, Nasogast...	ORPHA:353277
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Anemia	OMIM:600376
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, Hypertension, Hy...	OMIM:100300
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Ventricular septal defect, Short mandibular rami, Microdontia, Pyl...	OMIM:602535
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Rectal prolapse, G...	ORPHA:904
Cockayne Syndrome Type 3	Cataract, Mild postnatal growth retardation, Splenomegaly, Microcornea, Keratoconjunctivitis sicc...	ORPHA:90324
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Hydroce...	OMIM:130720
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Ventriculomegaly, Polyhydramnios, Long nose, Elbow flexion contracture, Gingival ov...	ORPHA:508533
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Elevated alkaline phosphatase of bone origin, Protu...	ORPHA:289157
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Agenesis of corpus callosum, Abnormal cardiac septum morphology, Hypod...	ORPHA:209905
Chime Syndrome	Epicanthus, Corneal opacity, Erythema, Skin ulcer, Acute leukemia, Upslanted palpebral fissure, P...	ORPHA:3474
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Down Syndrome	Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Aganglionic m...	OMIM:190685
Primary Dystonia, Dyt4 Type	Movement abnormality of the tongue, Open mouth, Torticollis, Dysphagia	ORPHA:98805
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventriculomegaly, Ventricular septal defect, Abnormal pulmonary valve morph...	ORPHA:268261
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:2519
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bifid uvula, Ventriculomegaly	OMIM:617159
Vipoma	Nausea and vomiting, Hepatomegaly, Anorexia, Poor appetite, Malabsorption, Intrahepatic cholestas...	ORPHA:97282
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Decreased muscle mass, Elbow flexion contracture, Cleft palate, Furrowed tongue, ...	OMIM:615065
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Feeding difficulties, Coronary artery fistula, Neonatal death, Atrial ...	OMIM:620024
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Esophageal a...	ORPHA:3380
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Abnormality of canine, Wide nasal bridge, Colpocephaly, Lower limb hype...	ORPHA:477993
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ...	ORPHA:1071
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Syn...	OMIM:186580
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Long philtrum	OMIM:617895
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Cataract, Acral ulceration, Osteomyelitis	OMIM:162400
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Palpebral edema, Hiatus hernia, Thick lower lip vermilion, Downturned corners of mouth, Chronic c...	OMIM:614756
X-Linked Acrogigantism	Diastema, Abdominal distention	ORPHA:300373
Leprosy	Absent eyebrow, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Penetrating foot u...	ORPHA:548
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia...	OMIM:616682
Oculodentodigital Dysplasia	Median cleft lip, Ventricular septal defect, Abnormal dental enamel morphology, Premature loss of...	ORPHA:2710
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Single umbilical artery, Oligohydramnios	OMIM:271520
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted low...	ORPHA:1519
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Blue Rubber Bleb Nevus	Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1782
Infantile Myofibromatosis	Neoplasm of the pancreas, Skin ulcer	ORPHA:2591
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Hydrocephalus, Heart mur...	ORPHA:163979
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte...	OMIM:270100
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Polyhydramnios, Feeding difficulties in infancy, High palate, Wrist flex...	ORPHA:800
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, High palate, Constipation, O...	OMIM:619743
Holoprosencephaly	Dandy-Walker malformation, Median cleft lip, Ventricular septal defect, Abnormal pulmonary valve ...	ORPHA:2162
Adult Syndrome	Absent nipple, Nasolacrimal duct obstruction, Skin ulcer, Hypoplastic nipples, Dry skin, Breast h...	ORPHA:978
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties, High palat...	OMIM:607721
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Stuve-Wiedemann Syndrome 1	Pursed lips, Carious teeth, Elbow flexion contracture, Feeding difficulties, Knee flexion contrac...	OMIM:601559
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her...	OMIM:618846
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
X-Linked Intellectual Disability, Wilson Type	Wide mouth, Lateral ventricle dilatation, Thick vermilion border	ORPHA:85290
Cerebrocostomandibular Syndrome	Ventricular septal defect, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Ro...	OMIM:117650
Dyggve-Melchior-Clausen Disease	Abnormal circulating enzyme concentration or activity, Limb muscle weakness, Protuberant abdomen	ORPHA:239
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Pyloric stenosis, F...	ORPHA:464306
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Cataract, Corneal opacity, Short stature, ...	ORPHA:534
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:618736
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Abnormality of canine, Adenomatous colonic polyposis, Desmoid tumors, Intesti...	ORPHA:261584
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul...	ORPHA:3097
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Vomiting, Intrauterine g...	OMIM:619475
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis	OMIM:615527
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolap...	OMIM:175050
Neuroocular Syndrome	Scapular winging, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Ankylogl...	OMIM:619539
Costello Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Rhabdomyosarcoma, Pyloric stenosis, H...	OMIM:218040
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Long nose, Submucous cleft ha...	ORPHA:3047
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Cerebellofaciodental Syndrome	Ventricular septal defect, Dental malocclusion, Mitral valve prolapse, Taurodontia, Macrodontia o...	OMIM:616202
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Congenital diaphragm...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Wide mouth, Duod...	OMIM:617798
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Cardiospondylocarpofacial Syndrome	Decreased fetal movement, Ventricular septal defect, Gastroparesis, Congenital diaphragmatic hern...	OMIM:157800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Blepharophimosis, Thymus hyperplasia	OMIM:619036
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Corneal pterygium, Symblepharon, Skin ulcer	OMIM:245660
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodactyly of finger, Hyd...	ORPHA:261337
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Ventricular septal defect, Cleft lip, Furrowed tongue, Feeding difficulties, Hi...	OMIM:616975
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Celiac disease, Dysplastic corpus callosum, Increased nuchal translucency, Chroni...	ORPHA:544488
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lymphedema, Generalized limb muscle atrophy, Lateral ventricle dilatatio...	ORPHA:2822
Phaver Syndrome	Intrauterine growth retardation, Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Weill-Marchesani Syndrome 1	Ventricular septal defect, Tooth malposition, Narrow palate, Mitral regurgitation, Pulmonic steno...	OMIM:277600
Apert Syndrome	Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Hydro...	OMIM:101200
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:434179
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ...	OMIM:123700
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Polyhydramnios, Flexion contracture, Gingival overgrowth, Lateral ven...	OMIM:614098
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
Cerebrocostomandibular Syndrome	Ventricular septal defect, Cleft palate, Feeding difficulties, Glossoptosis, Intrauterine growth ...	ORPHA:1393
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Hepatoblastoma, Agenesis o...	OMIM:312870
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla...	OMIM:149730
Acrodysostosis	Delayed eruption of teeth, Open bite, Wide nasal bridge, Open mouth, Short nose	ORPHA:950
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi...	OMIM:301000
Jacobsen Syndrome	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Flexion contracture, Atrial septal de...	OMIM:147791
Pfeiffer Syndrome	Open mouth, Wide nasal bridge, High palate, Short philtrum	ORPHA:710
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Open mouth, Ileus, Constipation	ORPHA:52503
Mosaic Trisomy 20	Ventricular septal defect, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Chronic constipat...	ORPHA:1724
Lateral Meningocele Syndrome	Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Smooth philtrum	ORPHA:2789
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Ventriculomegaly, Feeding difficulties, Lateral ventricle dilatati...	ORPHA:397715
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, 5-minute A...	ORPHA:141127
Distal Deletion 19P	Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Pulmonary valv...	ORPHA:96129
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesoph...	OMIM:607872
De Barsy Syndrome	Delayed eruption of teeth, Decreased fetal movement, Decreased muscle mass, Ventricular septal de...	ORPHA:2962
Rubinstein-Taybi Syndrome 1	Dental crowding, Polyhydramnios, Feeding difficulties in infancy, High, narrow palate, Flexion co...	OMIM:180849
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Thick vermilion border, Ventricular septal defect, Feeding difficulties	OMIM:250410
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,...	OMIM:182250
Orotic Aciduria	Atrial septal defect, Ventricular septal defect, Reduced orotidine 5-prime phosphate decarboxylas...	OMIM:258900
Currarino Syndrome	Gastrointestinal obstruction, Abdominal distention, Chronic constipation, Rectovaginal fistula, A...	OMIM:176450
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Cleft p...	OMIM:178110
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Aplasia of the pectoralis m...	ORPHA:3138
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno...	ORPHA:51
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Polyhydramnios, Malrotatio...	OMIM:606170
Williams-Beuren Syndrome	Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Gas...	OMIM:194050
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Feeding difficulties in infancy, Lateral ventricle dilatation, Flexion contracture, Dysphagia	ORPHA:2148
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Feeding difficulties in infancy, Abnormal...	ORPHA:513456
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Smooth phil...	ORPHA:293725
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Delayed eruption of teeth, Tricuspid regurgitation...	OMIM:143095
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cleft palate, Duo...	OMIM:617063
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Double inlet left ventricle, Lateral ventricle dilatation, High palate,...	OMIM:619869
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Intestinal bleeding, Intrauterine growth retardation, Gastrointestinal te...	OMIM:612199
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Feeding difficulties in infancy, Partial agenesis of the corpus callosum, Congenital...	ORPHA:300570
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Facial hypotonia...	OMIM:613458
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer	ORPHA:659
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Joubert Syndrome 38	Downturned corners of mouth	OMIM:619476
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Dental malocc...	OMIM:249420
Mckusick-Kaufman Syndrome	Ventricular septal defect, Aganglionic megacolon, Cleft palate, High palate, Hypoplastic left hea...	ORPHA:2473
Noonan Syndrome 1	Abnormal bleeding, Ventricular septal defect, Lymphedema, Feeding difficulties in infancy, High, ...	OMIM:163950
Jaberi-Elahi Syndrome	Triangular mouth, Dandy-Walker malformation, Short nose	OMIM:617988
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Everted lower lip vermilion, High palate, Short philtrum, Open mouth	ORPHA:2479
Myhre Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, Cleft lip, Generalized...	OMIM:139210
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Glutaric Acidemia I	Reduced peroxisomal glutaryl-CoA oxidase activity, Hepatomegaly, Lateral ventricle dilatation, Hy...	OMIM:231670
Witteveen-Kolk Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Feeding difficulties in infancy, High, narrow pa...	OMIM:613406
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft u...	OMIM:257920
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Renpenning Syndrome 1	Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Wide na...	OMIM:309500
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ...	OMIM:300166
Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Cleft palate, Short phil...	OMIM:300712
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr...	ORPHA:652
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Short nose, Gingival overg...	OMIM:268310
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, De...	ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Corneal scarring, Dry skin, Growth delay, Recurrent Staphyloco...	ORPHA:642
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Cleft upper lip, Cleft palate, Neonatal death, Intrauteri...	OMIM:146510
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Postencephalitic Parkinsonism	Open mouth, Vomiting, Dysphagia	ORPHA:97349
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Thick lower lip vermilion, Flexion contracture, Wide na...	OMIM:259050
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Keratoconjunctivit...	ORPHA:495875
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence...	OMIM:616145
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia	ORPHA:488627
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonar...	OMIM:620025
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Optic neuritis, Conjunctival hypere...	ORPHA:509
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Feeding difficulties in infancy, Co...	OMIM:261540
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ventricular septal defect, Cleft palate, Morgagni diaphragmatic ...	OMIM:613309
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Hydrocephalus, Open mouth, Agenesis of corpus callosum, Ventriculomegaly, Gastr...	ORPHA:457284
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Premature birth, Congenital diaphragmatic hernia, Cleft upper lip, Aqu...	OMIM:154400
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Patent foramen ovale, Deep philtrum, High pa...	OMIM:613884
Scalp-Ear-Nipple Syndrome	Palpebral edema, Cardiac myxoma, Congestive heart failure, Agenesis of permanent teeth, Hypertens...	OMIM:181270
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cleft lip, Cleft palate, Hepatosplenomegaly, Chronic constipation, Thick vermilion ...	OMIM:301066
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opacifi...	OMIM:256800
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Narrow mouth, Dilatation of ...	ORPHA:459070
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Dental crowding, Open bite, Feeding difficulties, Colpocephaly, High palate, Gastroesophageal reflux	OMIM:620083
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Keratoconjunctivitis sicca, Synophrys, Long eyelashes	OMIM:618479
Familial Keratoacanthoma	Adenoma sebaceum, Skin ulcer	ORPHA:493
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Long nose, Te...	OMIM:118450
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Feeding difficulties in infancy, Partial agenesis...	OMIM:135900
Kabuki Syndrome 1	Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, Feeding difficul...	OMIM:147920
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,...	OMIM:142900
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Femoral-Facial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Short nose, Cleft palate, Gastroesophageal r...	OMIM:134780
Adenocarcinoma Of The Anal Canal	Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t...	ORPHA:424016
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na...	OMIM:616078
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Dental malocclusion, High palat...	OMIM:102500
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Coronary sinus enlargement, Narrow philtrum, Thick vermilion border, H...	OMIM:619268
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypo...	OMIM:274000
Multiple Synostoses Syndrome 1	Thin upper lip vermilion, Asymmetry of the mouth, Wide nasal bridge, Short philtrum, Thick upper ...	OMIM:186500
Mowat-Wilson Syndrome	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Flexion ...	ORPHA:2152
Fanconi Anemia, Complementation Group C	Flexion contracture, Bruising susceptibility, Ventricular septal defect, Intrauterine growth reta...	OMIM:227645
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A...	ORPHA:261537
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Aganglionic megacolon, Small thenar eminence, Pectoralis...	OMIM:607323
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia	ORPHA:240071
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, A...	ORPHA:2388
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Feeding difficulties in infancy, Deep philtrum, High palate, Open mout...	ORPHA:1675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A...	ORPHA:261552
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Oral-pharyngeal dysphagia, Intrins...	OMIM:615273
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Camptodactyly, Protuberant abdomen, Knee flexion contracture	OMIM:618019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Cleft palate, Mitral regur...	OMIM:271640
Coffin-Lowry Syndrome	Ventriculomegaly, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate,...	OMIM:303600
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Thick vermilion border	OMIM:617107
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th...	OMIM:309580
Atypical Werner Syndrome	Diabetes mellitus, Short stature, Abnormal circulating leptin concentration, Insulin-resistant di...	ORPHA:79474
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Larsen Syndrome	Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Intra...	OMIM:150250
Orofaciodigital Syndrome Xiv	Natal tooth, Ventricular septal defect, Hamartoma of tongue, Cleft lip, Partial agenesis of the c...	OMIM:615948
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Penetrating foot ulcers, Ptosis	ORPHA:99956
Penile Agenesis	Ventricular septal defect, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Tracheoesophagea...	ORPHA:49
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Thick lower lip vermilion, Wide nasal bridge, Long philtrum, Thick upp...	OMIM:619727
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:600460
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Keutel Syndrome	Ventricular septal defect, Deep philtrum, Wide nasal bridge, Hypertension, Pulmonic stenosis	OMIM:245150
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Abnormality of the orbital region	ORPHA:43393
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Polyhydramnios, Flexion contracture, Gingival overgrowth, High palate...	ORPHA:435628
Phace Association	Ventricular septal defect, Dandy-Walker malformation	OMIM:606519
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Colpocephaly, Long philtrum, Short no...	OMIM:618820
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Esophageal atresia, Ventricular septal defect	OMIM:206900
Omodysplasia 1	Ventricular septal defect, Wide nasal bridge, Long philtrum, Atrial septal defect, Short nose	OMIM:258315
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Abnormal heart morphology, Feedi...	ORPHA:438213
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Pallister-Killian Syndrome	Edema of the dorsum of feet, Tented upper lip vermilion, Polyhydramnios, Congenital diaphragmatic...	OMIM:601803
Aicardi Syndrome	Cleft upper lip, Hiatus hernia, Partial agenesis of the corpus callosum, Choroid plexus cyst, Cle...	OMIM:304050
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology	ORPHA:90307
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Proteus Syndrome	Central heterochromia, Cataract, Thymus hyperplasia, Diabetes insipidus, Testicular neoplasm, Ret...	ORPHA:744
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Nuchal cord, Feeding difficulties, Lateral ventricle dilatation, Short umbilical cord, Dysphagia	OMIM:618367
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Cleft upper lip, Ankle flexion contracture, Hydrocepha...	OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Ventricular septal defect, Wide nasal bridge, High palate, Constipation...	OMIM:620330
Sotos Syndrome	Hip contracture, Ventricular septal defect, Aganglionic megacolon, Ankle flexion contracture, Abn...	ORPHA:821
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Cleft upper lip, Secun...	OMIM:214800
Proboscis Lateralis	Ventricular septal defect, Agenesis of canine, Orofacial cleft, High palate, Long philtrum, Ventr...	ORPHA:141099
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Osteoarthritis, Keratoconjunctivitis sicca, Ptosis	ORPHA:285
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Accessory oral frenulum, Cleft lip, Microglossia, Cleft p...	ORPHA:672
Vater/Vacterl Association	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Single umbilical artery...	OMIM:192350
6Q Terminal Deletion Syndrome	High, narrow palate, Colpocephaly, Thick vermilion border, Broad philtrum	ORPHA:75857
Ulnar-Mammary Syndrome	Ventricular septal defect, Pyloric stenosis, Elbow flexion contracture, Hypodontia, Arrhythmia	OMIM:181450
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate	ORPHA:1934
Townes-Brocks Syndrome 1	Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Gastr...	OMIM:107480
Craniofacial Microsomia 1	Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper lip, Hydrocephalus, Clef...	OMIM:164210
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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 Fes

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 Fes.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Fes^{tm1b(EUCOMM)Hmgu}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Fes^{tm1b(EUCOMM)Hmgu}	PMC6671969

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Fes^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Fes^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Fes^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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