| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Lymphopenia, Decreased proporti... |
OMIM:615615 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive hel... |
OMIM:312863 |
| Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Recurrent sinusit... |
OMIM:618204 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Panhy... |
OMIM:269840 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hi... |
ORPHA:294975 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... |
OMIM:617241 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... |
OMIM:611926 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Aggressive b... |
OMIM:251255 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pn... |
OMIM:615518 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Aut... |
OMIM:301082 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulating Ig... |
ORPHA:508533 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Palmar warts, Decreased circulating antibody level, Decreased ci... |
OMIM:618969 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating total IgM, T lymphocytopenia... |
OMIM:619510 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Polydactyly |
OMIM:615993 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Lymphopen... |
OMIM:618986 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Decreased ... |
OMIM:241600 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... |
OMIM:261600 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
ORPHA:331235 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Polyphagia |
OMIM:617119 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ... |
OMIM:616005 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Bronchiectasis, Decreased circulating antibod... |
OMIM:618108 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... |
OMIM:618394 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia |
OMIM:300484 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Polydactyly, Hypoplastic ischia, Decreased circulating antibody level |
OMIM:616910 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Self-mutilation, Postaxial polydactyly, Aggressive behavior |
OMIM:614970 |
| Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Giant platel... |
OMIM:169400 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:243700 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Pneumonia, Abnormal immunoglobulin level, Inc... |
ORPHA:276 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Immunodeficiency 92 |
|
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... |
OMIM:619652 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Leukemia, Polydactyly |
OMIM:602501 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 rat... |
ORPHA:572 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Obsessive-compulsive trait, Recurrent hand flapping, Postaxial polydactyly, Abnormal eating behavior |
ORPHA:544254 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis |
OMIM:616629 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Pulmon... |
OMIM:617895 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Compulsive behaviors, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... |
OMIM:615758 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Single transverse palmar crease, Polydactyly, Clinodactyly, Bra... |
OMIM:618950 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Choanal Atresia |
|
Recurrent respiratory infections, Polydactyly, Choking episodes |
ORPHA:137914 |
| Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... |
ORPHA:66628 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| 3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
| Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:614815 |
| Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... |
OMIM:618142 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Attention deficit hyperactivity disorder... |
ORPHA:397590 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Postaxial polydactyly, Splenomegaly, Decreased specific a... |
OMIM:614576 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal dysphagia, Abnormal to... |
ORPHA:404448 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:614175 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus |
OMIM:613885 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
| Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
| Hogue-Janssen Syndrome 2 |
|
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly |
OMIM:616362 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth... |
OMIM:619879 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roo... |
OMIM:616300 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Preaxial polydactyly, Abnormal temper tantrums, Skin-picking,... |
ORPHA:163681 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Polydactyly, Hepatosplenomegaly |
ORPHA:93400 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, ... |
OMIM:174300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Postaxial polydactyly, Aggressive behavior |
OMIM:615824 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
| Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... |
ORPHA:2886 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Polydactyly, Aspiration pneumonia |
ORPHA:314655 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Broad hallux, Sandal gap, Tapered finger, Abnorm... |
OMIM:615873 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Peripheral... |
OMIM:614099 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis |
OMIM:265120 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomel... |
ORPHA:397715 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis |
ORPHA:555874 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin... |
ORPHA:2754 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Bronchitis, Absc... |
ORPHA:125 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocat... |
OMIM:300968 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, Clinodactyly of ... |
OMIM:247200 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Diaphyseal dysplasia, Pol... |
ORPHA:137605 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis |
OMIM:610921 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Dysphagia, Neutropenia, Clinodactyly, Lymphopenia, Anemia |
OMIM:618460 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polyda... |
OMIM:619297 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
| Degcags Syndrome |
|
Syndactyly, Pancytopenia, Toe syndactyly, Pneumonia, Oral-pharyngeal dysphagia, Congenital hypopl... |
OMIM:619488 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Pulmonary hypoplasia |
OMIM:616546 |
| Mend Syndrome |
|
Hyperactivity, Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Over... |
OMIM:300960 |
| Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Aggressive behavior, Polydactyly |
ORPHA:17 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis |
OMIM:617478 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polyda... |
OMIM:249000 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, Clinoda... |
ORPHA:464306 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Recurrent respiratory infections, Hyperactivity, Broad hallux, Deviation of the hallu... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Recurrent respiratory infections, Hyperactivity, Broad hallux, Deviation of the hallu... |
ORPHA:353277 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Splenomegaly, Postaxial hand polydactyly, Recurrent pneumonia, Polydactyl... |
OMIM:613610 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly, Short dis... |
OMIM:109400 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:60025 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
| Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Joubert Syndrome 14 |
|
Postaxial polydactyly |
OMIM:614424 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis |
OMIM:252010 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Stromme Syndrome |
|
Accessory spleen, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis |
ORPHA:137675 |
| Poems Syndrome |
|
Acrocyanosis |
ORPHA:2905 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Tapered finger, Abnormal toe morphology, Aggressive behavior, Dysphagia, Polydacty... |
ORPHA:268261 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:311200 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Deep palmar crease, Hip dysplasia, Attention ... |
OMIM:616580 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v... |
OMIM:614976 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hyperactivity, Polydactyly |
ORPHA:77301 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Finge... |
OMIM:187300 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Polydactyly |
ORPHA:769 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:457284 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
| Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, 2-3 finge... |
OMIM:312870 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Spontaneous pneumothorax,... |
OMIM:610168 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis |
OMIM:306955 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short lon... |
OMIM:617088 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... |
ORPHA:740 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Dermatomyositis |
|
Cutaneous photosensitivity, Acrocyanosis, Telangiectasia of the skin, Erythema |
ORPHA:221 |
| Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin |
ORPHA:48435 |
| Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Attention deficit hyperactivity disorder |
OMIM:301022 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hip dysplasia, Talipes equinovarus, Postaxial polydactyly, Bruxism |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hip dysplasia, Talipes equinovarus, Postaxial polydactyly, Bruxism |
ORPHA:352665 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:605627 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Syndactyly, Recurrent respiratory infections, Postaxial polydactyly,... |
OMIM:619534 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
| Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
| Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... |
OMIM:192350 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Okamoto Syndrome |
|
Splenomegaly, Hip dysplasia, Polydactyly |
ORPHA:2729 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
| Orofaciodigital Syndrome Xiv |
|
Broad hallux, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:615948 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology |
ORPHA:95494 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |
