Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
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 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmop... |
ORPHA:79395 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi... |
ORPHA:38 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... |
OMIM:607936 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmar hyperlinearity, Palmoplantar keratode... |
OMIM:604777 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Spina bifida occulta, Growth delay, Epiphyseal stippling, Ab... |
ORPHA:177 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Hyperparakeratosis, Periorific... |
OMIM:614594 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Nail dys... |
OMIM:212360 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... |
OMIM:612281 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... |
ORPHA:2269 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin |
OMIM:616265 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Autoamputation of digits, Thickened skin, Palmopla... |
ORPHA:100976 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Onycholysis, Palmoplantar hyperhidrosis, Scaling skin,... |
OMIM:270300 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin, Palmar hyperlinearity |
OMIM:146700 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... |
OMIM:101900 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod... |
OMIM:300755 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... |
OMIM:257980 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:615598 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail... |
OMIM:607539 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Cubitus valgus, Dry skin, Bilateral single transve... |
ORPHA:1184 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Sparse hair, Nail dy... |
OMIM:604536 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cutaneous s... |
ORPHA:2890 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin, Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease... |
OMIM:308050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... |
OMIM:618986 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... |
OMIM:618982 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... |
OMIM:617571 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Sple... |
OMIM:607626 |
Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Tapered finger, Abnormal hair morphology, Erythema, Patchy palmoplantar ... |
ORPHA:317 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, 2-3 toe syndactyly, Dry skin, 3-4 finger syndactyly |
OMIM:600906 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:129490 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop... |
ORPHA:166113 |
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 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Coxa valga, Mild intrauterine growth retardation,... |
OMIM:616943 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullo... |
OMIM:615023 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyp... |
ORPHA:2199 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Systemic lu... |
OMIM:613779 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Palmoplantar keratoderma, Onycholysis, Nail dystroph... |
OMIM:224750 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Hepatomegaly, Short stature, Anemia of inadequate production, Anisoc... |
OMIM:615631 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormal lymphocyte ... |
ORPHA:2584 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin |
OMIM:618084 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615938 |
Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Camptodactyly of finger, Short thumb, Palmopla... |
ORPHA:2251 |
Ichthyosis With Confetti |
|
Short stature, Clubbing, Palmoplantar hyperkeratosis, Scaling skin, Hypoplastic nipples, Hypertri... |
OMIM:609165 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Slow-growing hair, Sparse eyelashes, Palmoplantar keratoderma, Sparse hair, Dr... |
OMIM:618535 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's pe... |
OMIM:606242 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Osteopenia And Sparse Hair |
|
Osteopenia, Sparse hair |
OMIM:259690 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follic... |
ORPHA:69125 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ... |
OMIM:600785 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, 2-3 toe cutaneous syndactyly, High anterior hai... |
OMIM:617364 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism, Tapered finger |
ORPHA:2812 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Palmar hyperlinea... |
OMIM:617337 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... |
OMIM:225280 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Cli... |
ORPHA:3268 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eye... |
ORPHA:35173 |
Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail |
ORPHA:384 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Complement Component C1R/C1S Deficiency |
|
Nephritis, Autoimmunity |
OMIM:216950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin, Short stature |
OMIM:275120 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Rocker bottom foot, Lateral ventricle dilatation, Talipes equinovarus, Overlapp... |
OMIM:618266 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Severe short stature, Sparse hair, Intrauterine growth retardation, Broad phala... |
OMIM:618724 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:113800 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Short stature, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, T... |
OMIM:613681 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... |
ORPHA:1660 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Lymphadenopathy, Ane... |
ORPHA:39041 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ... |
OMIM:605676 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Lat... |
OMIM:609637 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Cholestatic liver disease, Chronic kidney disease, Abnormal tubulointerstitial morph... |
OMIM:602114 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormality of... |
OMIM:601076 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Dry skin, Facia... |
ORPHA:1010 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Hypoplastic fingernail, Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasi... |
ORPHA:1113 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair, Ichthyosis |
ORPHA:91132 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Short stature, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Dry skin, A... |
OMIM:618116 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Grubben-De Cock-Borghgraef Syndrome |
|
Deviation of finger, Dry skin, Small hand |
ORPHA:2101 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Ascites, Tubulointerstitial fibrosis |
OMIM:232500 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Recon Progeroid Syndrome |
|
Short stature, Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Hyperconvex thumb n... |
OMIM:620370 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Reduced bone mineral density, Premature graying of ... |
ORPHA:2617 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Ulerythema Ophryogenesis |
|
Dry skin, Sparse lateral eyebrow, Facial erythema |
ORPHA:3406 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Sparse hair |
OMIM:615508 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... |
OMIM:614326 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Short neck, Synophrys, Primary amenorrhea, Shield chest, Hypoplas... |
ORPHA:247768 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... |
ORPHA:93126 |
Prolidase Deficiency |
|
Hepatomegaly, Arachnodactyly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterio... |
ORPHA:742 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Sagittal craniosynostosis, Sandal gap, 2-4 toe syndactyly, Postaxial p... |
OMIM:614099 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:612964 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Familial Melanoma |
|
Abnormal hair morphology, Dry skin, Neoplasm of the pancreas, Abnormality of the lymphatic system |
ORPHA:618 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythe... |
OMIM:607944 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia |
OMIM:166990 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... |
ORPHA:169160 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,... |
ORPHA:978 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkerat... |
OMIM:616295 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc... |
OMIM:619151 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:618944 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Abnormal epidermal morphology, Abnormal fingernail morphology |
ORPHA:79147 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous ... |
OMIM:600384 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Severe postnatal growth retardation, Wide anterior fontanel, Dry skin |
OMIM:275100 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... |
ORPHA:85450 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615937 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Fine hair, G... |
ORPHA:217346 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Short stature, Aplastic anemia, Avascular necrosis of the capital femoral... |
OMIM:613990 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Clinodactyly of the 5... |
OMIM:609638 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... |
OMIM:613101 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... |
OMIM:608184 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Dry skin, Congenital hip dislocation, Anemia |
OMIM:614450 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Short stature, Micromelia, Genu valgum, Dry skin |
ORPHA:1035 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora, Synophrys, ... |
ORPHA:495875 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short stature |
ORPHA:238446 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig... |
OMIM:208900 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Ic... |
ORPHA:79503 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Single transverse palmar crease, Sparse eyebrow, Synophrys, Hyposegmentation of neutr... |
OMIM:620075 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype... |
OMIM:618625 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Perineal hypospadias, Ambiguous genitali... |
OMIM:264600 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Short stature, Single transverse palmar crease, Highly arched eyebrow, Bifid di... |
OMIM:618419 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ataxia, Single transverse palmar crease, Progr... |
OMIM:614947 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis |
OMIM:131800 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Short palm |
OMIM:300982 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... |
OMIM:613573 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Idiopathic Localized Lipodystrophy |
|
Scleroderma, Morphea, Erythema, Scaling skin |
ORPHA:90158 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Satoyoshi Syndrome |
|
Hyperlordosis, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hy... |
ORPHA:3130 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... |
OMIM:148700 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Abnormal hair whorl, Synophrys, 2-3 toe syndactyly, Low posterior hairline, Short f... |
OMIM:300860 |
Riddle Syndrome |
|
Dry skin, Short stature |
OMIM:611943 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocephalus, An... |
OMIM:619302 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplantar keratoderma, Nail d... |
ORPHA:3162 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Lateral ventricle ... |
OMIM:613443 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Alopecia, Severe short stature, Sandal gap, Highly arched eyebrow, Curly eyelashes, A... |
ORPHA:3051 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Cholestasis, Lymphadenopathy, Scaling ski... |
ORPHA:293173 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology |
ORPHA:33314 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... |
ORPHA:331235 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Hyperkeratosis, Scaling skin, Dry skin, Ventriculomegaly |
OMIM:609180 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Redundant skin, Abnormal hair morphology, Wide anterior fontanel, Cu... |
ORPHA:2963 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Basan Syndrome |
|
Epidermal acanthosis, Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of to... |
OMIM:129200 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Glutamine Deficiency, Congenital |
|
Micromelia, Decreased CSF glutamine concentration, Erythema, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism, Short stature |
ORPHA:1123 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Moynahan Syndrome |
|
Alopecia, Short stature, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital ichthyosif... |
OMIM:242300 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukopenia, Adrenal i... |
OMIM:617053 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... |
OMIM:619208 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Acquired Ichthyosis |
|
Erythema, Dry skin, Palmoplantar keratoderma |
ORPHA:454 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody pos... |
OMIM:152700 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:613576 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Frontal hirsutism, Hydrocephalus |
OMIM:129850 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Hydrocephalus, Low anterior hairline, Lateral ventricl... |
OMIM:614219 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Synophrys, Low anterior hairline, Absent scrotum, Long eyelashes, Hir... |
OMIM:618479 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Short stature |
OMIM:616298 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Short stature, Hypoplasia of the femoral head, Coxa valga, Cubitus valgus,... |
OMIM:617396 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Low posterior hairline, Azoospermia, Vertebral segmentation ... |
ORPHA:2578 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Mesangial hypercellularity, Stage 5 chroni... |
OMIM:617575 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... |
OMIM:614841 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Skin ulcer |
ORPHA:1114 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmopl... |
ORPHA:89838 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Epidermal acanthosis, Splenomegaly, Hypereosinophilia,... |
OMIM:617388 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... |
ORPHA:498359 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... |
OMIM:300918 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Death in infancy, Sandal gap, Thrombocytopenia, Hirsutism, D... |
OMIM:617475 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... |
OMIM:618291 |
Leopard Syndrome 2 |
|
Curly hair, Cubitus valgus, Dry skin, Short stature |
OMIM:611554 |
Acute Radiation Syndrome |
|
Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... |
OMIM:247100 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Dry skin |
ORPHA:83452 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Decreased number of sweat glands, Short stature, Sparse eyelashes, Supernumerary nipp... |
OMIM:129400 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Elevated circulating creatine kinase concentration, Inability to walk,... |
ORPHA:365 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatosplen... |
OMIM:619644 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Hydrocephalus, Preaxial h... |
OMIM:175700 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Filippi Syndrome |
|
Single transverse palmar crease, Postnatal growth retardation, 2-4 toe syndactyly, Cutaneous synd... |
OMIM:272440 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... |
OMIM:616433 |
Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Hypogonadism, Sparse body hair, Intrauterine growth retardation, D... |
ORPHA:261483 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Short toe, ... |
OMIM:242100 |
Noonan Syndrome 14 |
|
Curly hair, Lymphopenia, Scapular winging, Sparse eyebrow, Cryptorchidism, Low posterior hairline... |
OMIM:619745 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... |
OMIM:308800 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Type II... |
ORPHA:100 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Dry skin, Short stature, Brachydactyly |
ORPHA:3085 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Overlapping toe, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, G... |
OMIM:613026 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Desbuquois Syndrome |
|
Severe short stature, Camptodactyly of finger, Coxa valga, Elbow dislocation, Abnormal eyelash mo... |
ORPHA:1425 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, O... |
ORPHA:1515 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Cutaneous anergy |
OMIM:114580 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea |
OMIM:614851 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Short stature, Thick hair, Abnormal hair pattern, Long eyelashes, Spina bifida... |
ORPHA:1514 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:615300 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding, Brachydactyly |
OMIM:619692 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Thrombocytopenia, Stag... |
ORPHA:1830 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S... |
ORPHA:1433 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis |
ORPHA:79100 |
Bowen-Conradi Syndrome |
|
Severe postnatal growth retardation, Cryptorchidism, Short stature, Severe intrauterine growth re... |
ORPHA:1270 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Mal De Meleda |
|
Epidermal acanthosis, Abnormality of the hand, Erythema, Nonepidermolytic palmoplantar hyperkerat... |
ORPHA:87503 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, ... |
ORPHA:166024 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Sparse facial hair, Sparse axillary hair, Cubitus valgus, Genu valgum,... |
OMIM:608154 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... |
OMIM:619203 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadeno... |
OMIM:617827 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc... |
ORPHA:79151 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Dilated third ventricle, Cryptorchidism, Low anterior hairline, Hirsutism,... |
OMIM:619244 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Na... |
OMIM:103285 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Hypoplastic thumbnail, Bifid dista... |
ORPHA:370010 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Short stature, Hyperconvex nail, Eosinophil... |
ORPHA:353298 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Periorbital... |
OMIM:614941 |
Lamellar Ichthyosis |
|
Short stature, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/H... |
ORPHA:313 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin, Short stature, Broad palm |
OMIM:268020 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair... |
ORPHA:79402 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Scaling skin,... |
ORPHA:79456 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cut... |
OMIM:309400 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Ddost-Cdg |
|
Osteopenia, Hepatic steatosis, Dry skin, Short stature |
ORPHA:300536 |
Squalene Synthase Deficiency |
|
Elbow flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmentation, Slender long bon... |
OMIM:618156 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:380 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Hydrocephalus, Low posterior hairline, Azoospermia, Cubit... |
ORPHA:2183 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Sparse eyelashes, Epidermal acanthosis, Equinus calcaneus,... |
ORPHA:477 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... |
ORPHA:83471 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Hyperkeratosis, Multiple lipomas, Lipoma, Ly... |
OMIM:176920 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary ameno... |
OMIM:619665 |
Cutaneous Mastocytoma |
|
Erythema, Scaling skin, Lymphadenopathy |
ORPHA:79455 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Ventriculomegaly |
ORPHA:99802 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:614129 |
Sjögren-Larsson Syndrome |
|
Erythema, Dry skin, Short stature |
ORPHA:816 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Split hand, Growth delay, Sparse body hair, Aplasia/H... |
ORPHA:2850 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Hemiatrophy |
ORPHA:306669 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis, Psoriasiform lesion, Scaling skin |
ORPHA:284426 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Low posterior hairline, Growth delay, Cubitus valgus, Dry skin |
OMIM:613707 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse... |
ORPHA:113 |
Distal Duplication 6P |
|
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Intrauterine growt... |
ORPHA:1745 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Hypopl... |
ORPHA:235 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad... |
OMIM:615387 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hy... |
ORPHA:3363 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... |
OMIM:605432 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Short stature, Single transverse palmar crease, ... |
OMIM:616651 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Phenylketonuria |
|
Fair hair, Dry skin |
OMIM:261600 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Perianal erythema, Splenomegaly, Paronychia, Alopecia of scalp, Peri... |
OMIM:201100 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Asthma, A... |
ORPHA:397590 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Short stature, Craniosynostosis, Highly arched eyebrow, Hip dislocatio... |
OMIM:619451 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation |
OMIM:617668 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... |
OMIM:615122 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Estrogen Resistance |
|
Primary amenorrhea, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Acanthosis nigr... |
OMIM:615363 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Hepatomeg... |
OMIM:619487 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Dry skin |
OMIM:274400 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Camptodactyly of finger |
ORPHA:376 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Partial agenesis of the corpus callosum, Increased CSF lactate, ... |
ORPHA:79243 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Erythema, Abnormality of female external genitalia |
ORPHA:83453 |
Pontocerebellar Hypoplasia, Type 13 |
|
Single transverse palmar crease, Clubbing, Low posterior hairline, Lateral ventricle dilatation, ... |
OMIM:618606 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Agenesis of corpus callosum, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Noonan Syndrome 13 |
|
Overlapping toe, Highly arched eyebrow, Tapered finger, Metatarsus adductus, Low posterior hairli... |
OMIM:619087 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Swelling of proximal interphalangeal ... |
ORPHA:69087 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Disproportionate short stature, Coxa vara, Fine hair, Anemia, Narrow pelvis bone, Abn... |
ORPHA:2637 |
Refsum Disease |
|
Short metacarpal, Splenomegaly, Hammertoe, Abnormal epiphysis morphology, Nail dysplasia, Dry skin |
ORPHA:773 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Enlar... |
ORPHA:90796 |
Lissencephaly, X-Linked, 2 |
|
Lissencephaly, Gliosis, Ambiguous genitalia, Micropenis, Pachygyria, Agenesis of corpus callosum,... |
OMIM:300215 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Short stature, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... |
OMIM:617126 |
Netherton Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fin... |
ORPHA:634 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Bilateral talipes equinovarus, Ichthyosis |
ORPHA:284417 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Postaxial polydactyly, Splenomegaly, Cholestasis, Growth delay, Hip d... |
OMIM:614576 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus cal... |
OMIM:618736 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle |
ORPHA:79481 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Anemia |
ORPHA:375 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi... |
OMIM:601186 |
Weaver Syndrome |
|
Deep-set nails, Finger syndactyly, Sandal gap, Redundant skin, Camptodactyly of finger, Abnormal ... |
ORPHA:3447 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Tapered finger, Bilat... |
ORPHA:544488 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrom... |
OMIM:617303 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Partial agenesis of the corpus callosum, Delayed epi... |
OMIM:210710 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged neonatal jaundice, Dry ... |
ORPHA:226313 |
Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... |
ORPHA:2492 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthy... |
ORPHA:494 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Lateral ventricle dilatation, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short stature, Postnatal growth retardation, Short prox... |
ORPHA:261323 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal inflammation... |
ORPHA:101330 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadia... |
OMIM:607143 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Eosinophilia, Cutaneous abscess, Dry skin, Sterile abscess |
OMIM:618282 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre... |
ORPHA:90362 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... |
OMIM:607426 |
Noonan Syndrome 5 |
|
Curly hair, Short stature, Sparse eyebrow, Fine hair, Small nail, Cubitus valgus, Dry skin |
OMIM:611553 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Increased CSF protein concentration |
OMIM:136300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System... |
ORPHA:90033 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:256850 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Sparse hair, Shor... |
ORPHA:221016 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Dry skin, Hypertrichosis, Cutis laxa |
OMIM:612379 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the... |
ORPHA:785 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Abnormality of the li... |
ORPHA:84064 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Short stature, Single transverse palmar crease, Micromelia, Broad hallux, Postnatal g... |
OMIM:614800 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Short stature, Camptodactyly of finger, Coarse hair, Joint contract... |
ORPHA:1883 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Ectrodactyly, Sparse body hair |
ORPHA:1897 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Short stature, Proximal placement of thumb, Limited elbow movement, Postnatal grow... |
OMIM:300590 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... |
OMIM:620066 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis, Cryptorchidism, Flexion contracture, Hirsutism, Elbow flexion contracture, Knee f... |
OMIM:214150 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Sparse hair, Shor... |
ORPHA:221008 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Small nail, Clinodactyly of the 5th finger, ... |
OMIM:619075 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:620184 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Nail dystrophy, Nail dysplasia, Dry skin |
OMIM:205400 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood |
OMIM:619517 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Short stature, Osteolysis involving bones of the upper limbs, Osteolysis in... |
ORPHA:88630 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Monosomy 5P |
|
Finger syndactyly, Short stature, Small hand, Abnormality of bone mineral density, Intrauterine g... |
ORPHA:281 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Single transverse palmar crease, Broad femoral neck, Cryptorchidism, Giant platelets,... |
OMIM:611209 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Thick eyebrow |
OMIM:309585 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Death in childhood, Fair hair, Metaphyseal i... |
OMIM:269920 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Scaling skin, Death in childhood, Neonatal death, Periungual e... |
OMIM:308205 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly |
OMIM:614870 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
Recessive X-Linked Ichthyosis |
|
Dry skin |
ORPHA:461 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Hyperkeratosis, Pili t... |
ORPHA:1573 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Abnormality of the ... |
ORPHA:275555 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Abnormal fingernail morpholog... |
ORPHA:1319 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Synophrys, Decreased testicular size, Low posterior hairline |
ORPHA:85287 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Penile freckling, Hyperkeratosis, Scrotal hyperpigmentation, Skin... |
ORPHA:79145 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Short stature, Asthma, Hyperkeratosis, Palmoplantar keratoderma, Nail dystr... |
OMIM:616029 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Agenesis of corpus callos... |
OMIM:617914 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Tapered finger, Long eyebrows, Synophrys, Low anterior hair... |
OMIM:619312 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Respiratory insufficiency, Blind vagina, Mi... |
ORPHA:456328 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Ir... |
OMIM:110100 |
Craniosynostosis 6 |
|
Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus cal... |
OMIM:616602 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Short stature, Hypertrichosis, Onychauxis |
OMIM:262190 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformit... |
ORPHA:3078 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Lymphopenia, Short stature, Thrombocytopenia, Reticulocytopenia,... |
ORPHA:508542 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus |
ORPHA:250994 |
Fg Syndrome 3 |
|
Death in infancy, Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, ... |
OMIM:300406 |
9P13 Microdeletion Syndrome |
|
Thick eyebrow, Short stature, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Abno... |
ORPHA:324313 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Neonatal asphyxia, Asthma, Follicular hyperkeratosis, Al... |
OMIM:608649 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Hydrocephalus, Abnormal epidermal morphology |
ORPHA:398189 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, S... |
ORPHA:308552 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Onycholysis, Dry skin |
ORPHA:1028 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Hyperkeratosis, Dandy-Walker malformation, V... |
ORPHA:2611 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:607596 |
Cog5-Cdg |
|
Camptodactyly of finger, Cryptorchidism, Hepatosplenomegaly, Finger clinodactyly, Abnormality of ... |
ORPHA:263487 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Respiratory failure, Absent finge... |
ORPHA:158687 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:600081 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Recurrent pneumonia, Palmoplantar keratoderma, Anoperineal fistula, Scaling skin, ... |
ORPHA:158668 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Mpdu1-Cdg |
|
Scaling skin, Ventriculomegaly, Ichthyosis |
ORPHA:79323 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... |
OMIM:610333 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatation, Joint contra... |
OMIM:618914 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyelashes, Limited elbow movement, Sparse eyeb... |
OMIM:614008 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Antinuclear antibody positivity, Abnormality of the kidney, Abnormal renal physiology, Systemic l... |
OMIM:609939 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... |
OMIM:602400 |
Linear Iga Dermatosis |
|
Renal neoplasm, Autoimmunity |
ORPHA:46488 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Short stature, Fine hair, Growth delay, Talipes equinovarus... |
ORPHA:251019 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen... |
OMIM:232220 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Abnormal sa... |
ORPHA:1807 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Sparse eyelashes, Sandal gap, Hydrocephalus, Small hand, Low poste... |
OMIM:612863 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... |
ORPHA:99931 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... |
OMIM:615821 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... |
ORPHA:90793 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Fair hair, Proportionate short stature, Premature graying of hair, Anemia, Intraute... |
OMIM:620331 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Finger syndactyly, Overlapping toe, Single transverse palmar crease, Sparse ey... |
ORPHA:464738 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa... |
OMIM:250250 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Redundant neck skin, Abnormal acetabulum morphology, S... |
ORPHA:397715 |
Noonan Syndrome 8 |
|
Curly hair, Short stature, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis, Webbed neck,... |
OMIM:615355 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Highly arc... |
OMIM:600325 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Flar... |
OMIM:615349 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
Graft Versus Host Disease |
|
Dupuytren contracture, Limited elbow movement, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Chr... |
ORPHA:39812 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of the hand, Sparse... |
OMIM:190350 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... |
OMIM:300219 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Sparse scalp hair, Single transverse palmar crease, Postnatal growth retardation, 2-3... |
ORPHA:2324 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, A... |
ORPHA:1655 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Lissencephaly, Ichthyosis, Testicul... |
ORPHA:281090 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Growth delay,... |
OMIM:616006 |
Eec Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Short stature, Slow-growing h... |
ORPHA:1896 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:168486 |
Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Hypoplastic toenai... |
ORPHA:96148 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Short stature, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossificati... |
OMIM:300554 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Malan Overgrowth Syndrome |
|
Slender long bone, Lateral ventricle dilatation, Ventriculomegaly, Low posterior hairline |
ORPHA:420179 |
Chilblain Lupus |
|
Hyperkeratosis, Finger swelling, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly |
OMIM:602501 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis |
ORPHA:455 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Synophrys, Highly arched eyebrow, Lateral ventricle dilatation |
OMIM:617751 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Short stature, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail,... |
OMIM:601675 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Hypergranul... |
OMIM:133200 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Alopecia, Brittle hair, Tarsal synostosis, Pancreatic cysts, Preaxial hand pol... |
ORPHA:2750 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Postnatal growth retardation, Metaphyseal sc... |
OMIM:612199 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Short stature, Brachydactyly |
OMIM:610023 |
Gand Syndrome |
|
Long toe, Long fingers, Sparse hair |
OMIM:615074 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Cryptorchidism, Long eyelashes, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ... |
ORPHA:2909 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:277440 |
Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, Gl... |
ORPHA:2137 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Alopecia of scalp, Toenail dysplasia |
ORPHA:1532 |
Congenital Lethal Erythroderma |
|
Dry skin |
ORPHA:1954 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus... |
ORPHA:163966 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Gliosis, Scoliosis |
ORPHA:357225 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers |
OMIM:615716 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Charlie M Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Split hand, Triphalangeal thumb, Abnormal meta... |
ORPHA:1406 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal... |
ORPHA:100026 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... |
OMIM:209920 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Ulnar deviation of the hand, Arachnodactyly, Highly arched eyebrow, Supernumera... |
OMIM:615485 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair |
ORPHA:2985 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:242900 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Abnormality of neuronal migration, Gliosis, Microphallus, Ventriculomegaly |
OMIM:300957 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short stature, Bowing of the long bones, Microme... |
OMIM:614091 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Abnormal position of hair whorl |
ORPHA:85290 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Primary amenorrhea, Gliosis, Secondary amenorrhea |
OMIM:603896 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperhidrosis, Short eyelashes, Palmar hyperkerat... |
OMIM:150400 |
Trisomy 4P |
|
Hypospadias, Short stature, Abnormal hair pattern, Cryptorchidism, Low anterior hairline, Thick e... |
ORPHA:1738 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Erythema, Skin ulc... |
ORPHA:37 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Polyuria |
OMIM:222100 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Highly arched eyebrow |
OMIM:608629 |
Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Epidermal acanthosis, Leukocytosis, Erythema, Nail dystrophy |
OMIM:614204 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Small hand |
OMIM:300884 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Cutis laxa, Low posterior hairline, Hypoplas... |
ORPHA:3134 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... |
OMIM:615934 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Wide anterior fontanel, Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Craniosynostosis, D... |
ORPHA:1520 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Gliosis |
OMIM:225753 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Severe short stature, Alopecia, Abnormality of the elbow, Hip d... |
ORPHA:1005 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Deep palmar crease, Dry skin, Long eyelashes |
OMIM:620191 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Nephrolithiasis, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Abnormality of the hand |
OMIM:221770 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Intrauterine g... |
ORPHA:1912 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short stature, Sparse eyelashes, Low anterior hairline, Small hand, Thin eyebr... |
ORPHA:1787 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Mannosidosis, Alpha B, Lysosomal |
|
Inguinal hernia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Low anterior h... |
OMIM:248500 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Decreased fertility, Hypogonadism, Sparse body... |
ORPHA:2234 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytop... |
ORPHA:848 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Hyperkeratosis, Nail dystrophy, Abnormality of the wrist, Abnormal toen... |
ORPHA:89843 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Sparse axillary hair, Sparse pubic hair, Thickened skin, 3-4 finger cutaneous ... |
OMIM:181270 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Decreased fertility, Secondary ... |
ORPHA:243 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Tapered finger, Nail dystrophy, Sma... |
OMIM:181600 |
Edinburgh Malformation Syndrome |
|
Long fingers, Hydrocephalus, Synophrys, Slender finger, Low posterior hairline, Ulnar deviation o... |
ORPHA:1895 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Vagina... |
OMIM:616258 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Alopecia, Brachydactyly, Hypoplastic fingernail, Hydrocephalus,... |
ORPHA:974 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Generalized hirsutism |
ORPHA:1918 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Delayed puberty |
ORPHA:486815 |
6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly, Hydrocephalus, Redundant skin |
ORPHA:251046 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Sparse eyelashes, Avascular necrosis of... |
ORPHA:77258 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Short stature, Highly arched eyebrow, Short first metata... |
OMIM:613684 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short stature, Redundant skin, Abnormal morphology of ulna, Slow-growing hair, Abno... |
ORPHA:1340 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Sandal gap, Widow's peak, Small hand, 2-3 toe syndactyly, Death in adolescence,... |
OMIM:619229 |
Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Cutaneous syndactyly, Small nail, Nail dysplasia, Sparse hair, Clinodacty... |
OMIM:119580 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty... |
ORPHA:3210 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Lateral ventricle dilatation, Ventriculomegaly, Petechiae |
OMIM:617397 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Cach Syndrome |
|
Lateral ventricle dilatation, Hepatosplenomegaly |
ORPHA:135 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Micropenis,... |
OMIM:620076 |
Adiposis Dolorosa |
|
Sparse pubic hair, Dry skin, Sparse axillary hair |
ORPHA:36397 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... |
OMIM:276700 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Decreased skull ossification, Generali... |
ORPHA:955 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:241530 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Redundant neck skin, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-W... |
OMIM:617967 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... |
ORPHA:51636 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Hepatoportal Sclerosis |
|
Anticardiolipin IgG antibody positivity, Portal hypertension, Portal vein thrombosis, Hyperspleni... |
ORPHA:64743 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Ichthyosis, Neonatal death, ... |
ORPHA:85284 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared ili... |
OMIM:616300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture, Small nail |
OMIM:619470 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Short stature, Splenomegaly, Abnormal pelvic girdle bone... |
ORPHA:1133 |
Alexander Disease |
|
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... |
OMIM:203450 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Tapered finger, Hypoplastic toenails, Spl... |
ORPHA:2930 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Short stature, Cryptorchidism, Abnormality of the scrotum, Generalize... |
ORPHA:2505 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Hand polydactyly, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Delayed... |
ORPHA:1825 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Abnormal labia majora morphology, Acantholysis |
ORPHA:69745 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypermobility of toe joints, Hyperextensibility of the finger joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Hydrocep... |
ORPHA:2701 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Short stature, Postnatal growth retardation, 4-5 toe syndactyly, Synophrys, Sparse hair, Thick ey... |
OMIM:611091 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Ruijs-Aalfs Syndrome |
|
Short stature, Down-sloping shoulders, Single transverse palmar crease, Elbow flexion contracture... |
OMIM:616200 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Ridged nail, Split n... |
ORPHA:33364 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti... |
ORPHA:90060 |
Restrictive Dermopathy 1 |
|
Hypospadias, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eye... |
OMIM:275210 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Autoimmunity, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell count, H... |
ORPHA:158061 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis |
OMIM:236792 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Gliosis, Simplified gyral pattern |
OMIM:615095 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Bone marrow hypocellu... |
OMIM:609054 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Redundant neck skin, Broad hallux, Short stature, Wide anterior fontanel, Widow's pea... |
OMIM:239710 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Decreased... |
ORPHA:169105 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Hyperkeratosis, Osteolytic defects of the phalanges of the hand, Metatarsal fracture |
OMIM:615632 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Long eyelashes, Clinodactyly, Agenes... |
OMIM:618577 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... |
ORPHA:2635 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c |
OMIM:619278 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating f... |
OMIM:235200 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Short stature, Trichiasis, Dry skin, Nail dysplasia, Camptodactyly, Joint contrac... |
OMIM:601701 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Alopecia, Absent e... |
OMIM:263650 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... |
OMIM:309801 |
Restrictive Dermopathy |
|
Hypospadias, Short nail, Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat gland... |
ORPHA:1662 |
Li-Campeau Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Micropenis, Thick eyebrow, Hypertrichosis |
OMIM:619189 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Shawl scrotum |
OMIM:615942 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Toe syndactyly, Redundant skin, Camptodactyly of finger, Abnormal hair pattern, A... |
ORPHA:920 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... |
ORPHA:312 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Normochromic anemia, A... |
ORPHA:247691 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Asthma, ... |
ORPHA:8 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal rib morphology, Ventriculomegaly, Neutropenia |
ORPHA:2643 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Highly arched eyebrow, Hypoplasia of the uterus, Long eyelashes, Hypertrichosis |
OMIM:615866 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Redundant skin, Micromelia, Hydrocephalus, Holoprosencephaly, Acanthosis nigricans... |
ORPHA:93274 |
Alopecia Antibody Deficiency |
|
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Short stature, Pneumonia... |
ORPHA:1867 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Thanatophoric Dysplasia |
|
Redundant skin, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Acanthosis nigri... |
ORPHA:2655 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Low anterior hairline, Perineal hypospadias, Cutis laxa, Low poste... |
OMIM:312830 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:264700 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, External genital hypoplasia, Single transverse palmar crease... |
ORPHA:96334 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Femur fracture, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Deat... |
OMIM:612301 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Gliosis |
OMIM:213200 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Stiff interphalangeal joints, Lethargy, Hypothyroidism, Hypogonadotropic hypogonadism, Portal hyp... |
ORPHA:465508 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Hypoplastic ilia, Abnormal sac... |
ORPHA:1860 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Inguinal hernia, Abnormal intervertebral disk morphology, Hypospa... |
ORPHA:2311 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Thick eyebrow, Abnormal fingertip morphology, Dermal translucency |
ORPHA:529965 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Peritonitis, Increased circulating myelocyte count, Hepatitis, Abnormality of the upper ... |
ORPHA:36234 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
Sialidosis Type 1 |
|
Splenomegaly, Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, Hy... |
ORPHA:812 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... |
ORPHA:275 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Supernumerary nipple, Abnormal fibula morphology, Fine hair, Aplastic/hypoplastic toe... |
ORPHA:1812 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... |
ORPHA:1703 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Dry skin |
OMIM:612132 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia, Ichthyosis |
ORPHA:88621 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Portal hypertension, Hypoplastic toenails, Splenomegaly, Foot oligodactyly, Hepatic f... |
OMIM:616589 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Hepatomegaly, A... |
OMIM:224120 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short distal phalanx of finger |
ORPHA:181 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Rabson-Mendenhall Syndrome |
|
Short stature, Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Severe p... |
ORPHA:769 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Hyperconvex nail, Genu valg... |
OMIM:619721 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Glandular... |
OMIM:620306 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Brachydactyly, Severe short stature, Sparse scalp hair, Proximal placemen... |
OMIM:615789 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Single transverse palmar crease, Synophrys, Noncommunicating hydrocephalus, Low posterior hairlin... |
OMIM:619320 |
Cornelia De Lange Syndrome 5 |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Synophrys, Lo... |
OMIM:300882 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90037 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Nail dysplasia, Camptodac... |
OMIM:603543 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse bod... |
OMIM:300869 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Osteolysis, Skin ulcer, Palmoplantar keratode... |
ORPHA:659 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Dent Disease 1 |
|
Bulging epiphyses, Short stature, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossificati... |
OMIM:300009 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:609441 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Woolly hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse ha... |
OMIM:614602 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... |
ORPHA:231222 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Small hand, Growth delay, Talipes equinovarus, Camptodactyly, Sparse hair, Clinodacty... |
OMIM:619980 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus |
OMIM:214110 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Splenomegaly, Hydrocephalus, Anem... |
ORPHA:398124 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Hypertrichosis |
OMIM:201550 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Onycholysis |
OMIM:104570 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Palmoplantar keratoderma, Testicular neoplasm |
OMIM:308100 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Down-sloping shoulders, Proportionate short stature, Deviation of the 5th toe, Synophrys, Low ant... |
ORPHA:391408 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... |
ORPHA:2522 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Redundant skin, Absent eyelashes, Cutaneous fin... |
OMIM:200110 |
Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Short stature, Cryptorchidism, Widow's peak, Intrauterine growth retardation |
OMIM:101805 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnorma... |
ORPHA:53 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad... |
ORPHA:1553 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Osteoporosis, Hip dislocation, Elbow flexion contracture, Cutis laxa, Fine hair, Exce... |
OMIM:614438 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis, Psoriasiform lesion |
ORPHA:163525 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Hypoplasia of penis, Rhizomelia, Cryptorchidism, Ambiguous genitalia |
ORPHA:93328 |
Agel Amyloidosis |
|
Cutis laxa, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Dry skin |
ORPHA:85448 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... |
ORPHA:3344 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Aarskog-Scott Syndrome |
|
Cryptorchidism, High anterior hairline, Short stature, Shawl scrotum |
ORPHA:915 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Single transverse palmar crease, Mo... |
OMIM:615777 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Overlapping toe, Abnormal hair whor... |
ORPHA:163956 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Proximal placement of thumb, Low anterior hairline, Long eyelashes, Sparse hair, C... |
OMIM:617883 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Toe syndactyly, Micromelia, Hydrocephalus, Postaxial h... |
OMIM:241800 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Arachnodactyly, Short stature, Abnormality of hair texture, Hip disloca... |
ORPHA:96169 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Femo... |
OMIM:608940 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Focal segmental glomerulosc... |
OMIM:232200 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hydrocephalus, Hip dysplasia, Deviation... |
OMIM:616362 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Genu valgum, Short foot... |
ORPHA:300570 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concen... |
OMIM:616034 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Cryptorchidism, Premature graying of hair, Alopecia of scalp, Excessive wri... |
OMIM:210700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Septate vagina, Preaxial polydactyly, Hy... |
OMIM:617925 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Proportionate short stature, Abnormality of the hand, Sparse... |
OMIM:234100 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Barber-Say Syndrome |
|
Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterior hair... |
OMIM:209885 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, High-output conge... |
ORPHA:231226 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnormal eyelash morphology, Postnat... |
OMIM:206920 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Spina bifida |
ORPHA:945 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Koolen-De Vries Syndrome |
|
Fair hair, Short stature, Abnormality of hair texture, Hypotrophy of the small hand muscles, Hip ... |
OMIM:610443 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Hep... |
ORPHA:1775 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Sparse eyebrow, Cryptorchidism, Long fingers, Lateral ventricle dilata... |
OMIM:617557 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormal rib morphology, Abnormality of neuronal migration, ... |
ORPHA:2772 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Shor... |
OMIM:271520 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... |
OMIM:307500 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Highly arched eyebrow, Synophrys, Sparse hair, Dyspla... |
OMIM:616854 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Hydrocephalus, Ventriculomegaly, Anemia |
ORPHA:858 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Epiphyseal stippling, Coarse hair, Talipe... |
OMIM:118650 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... |
OMIM:305400 |
Warburg Micro Syndrome 1 |
|
Short stature, External genital hypoplasia, Cryptorchidism, Facial hypertrichosis, Hypertrichosis |
OMIM:600118 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chronic monilial nail infect... |
ORPHA:294023 |
Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Long eyelashes, Prominent fingertip pads, Broad eyebrow, Dermal tra... |
OMIM:617682 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Gliosis, Ventriculomegaly |
ORPHA:157941 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Rib fusion, Abnormal rib... |
ORPHA:1988 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Cellulitis |
ORPHA:3165 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur... |
OMIM:232240 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate |
ORPHA:565624 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyper... |
ORPHA:2232 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Brachydactyly, Bowed humerus, Lateral ventricle dilatation, Short ... |
OMIM:619479 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Sparse scalp hair, Short stature, Hypospadias, Sparse eyebrow |
ORPHA:66629 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Dry skin, Sparse eyelashes |
OMIM:610768 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Low posterior hairline, Abnormal... |
ORPHA:2345 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Na... |
ORPHA:93267 |
Fucosidosis |
|
Hepatomegaly, Short stature, Petechiae, Coxa valga, Splenomegaly, Vacuolated lymphocytes, Dry ski... |
OMIM:230000 |
Huntington Disease |
|
Gliosis |
OMIM:143100 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Brachydactyly |
OMIM:619995 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Tapered finger, Small hand, 2-3 toe syndactyly, Sparse hair, High anterior hairline |
ORPHA:284180 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Scoliosis, Female infertility |
OMIM:619518 |
Prune Belly Syndrome |
|
Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal rib morphology, Decreased fe... |
ORPHA:2970 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Single transverse palmar crease, Supernumerary nipple, Highly arched e... |
OMIM:619951 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin... |
OMIM:308300 |
Costello Syndrome |
|
Deep-set nails, Short stature, Redundant skin, Abnormal fingernail morphology, Concave nail, Abno... |
ORPHA:3071 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Rib fusi... |
ORPHA:64755 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Severe short stature, Abnormal eyelash morphology, Abnormal hair morphology, Skin u... |
ORPHA:2526 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Growth del... |
OMIM:614813 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Scaling skin, Ichthyosis, Cutaneous a... |
OMIM:618131 |
Lymphatic Filariasis |
|
Orchitis, Wheezing, Epididymitis, Vaginal hydrocele, Hydrocele testis, Hyperkeratosis, Restrictiv... |
ORPHA:2035 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Hydrocephalus, Myelomeningocele,... |
ORPHA:2437 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, ... |
ORPHA:178303 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Pallor, Anemia |
ORPHA:163596 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
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Atrophic scars, Kyphoscoliosis, Hernia, Follicular hyperkeratosis |
ORPHA:300179 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Hamamy Syndrome |
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Osteopenia, Syndactyly, Long toe, Sparse eyelashes, Down-sloping shoulders, Craniosynostosis, Tap... |
OMIM:611174 |
Distal Deletion 10P |
|
Hypoplasia of penis, Short stature, Abnormal fingernail morphology, Hypoplastic toenails, Cryptor... |
ORPHA:1580 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
Vacterl Association With Hydrocephalus |
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Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Stillbirth |
OMIM:276950 |
Igg4-Related Aortitis |
|
Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Hy... |
ORPHA:449400 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Neutrophilia, Abscess, Splenomegaly, Hyperkeratosis, Fused cervical vertebrae, Flaring of rib cag... |
OMIM:612852 |
Gapo Syndrome |
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Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Ventriculomegaly, Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Epiphyseal... |
OMIM:302960 |
Laurence-Moon Syndrome |
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Finger syndactyly, Short stature, Bilateral single transverse palmar creases, Congenital hepatic ... |
ORPHA:2377 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Menkes Disease |
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Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Woolly hair, Osteoporosis,... |
ORPHA:565 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
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Syndactyly, Short toe |
OMIM:612581 |
Nicolaides-Baraitser Syndrome |
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Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Cryptorchidism, Lateral ventricle dilatation, Death in childhood |
OMIM:619847 |
Cockayne Syndrome B |
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Hepatomegaly, Dry hair, Severe short stature, Postnatal growth retardation, Abnormal hair morphol... |
OMIM:133540 |
Moebius Syndrome |
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Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Cryptorchidism, Hypoplasia of penis, Shawl scrotum |
ORPHA:2256 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Cryptorchidism, Cutis laxa, G... |
ORPHA:75496 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Hypogonadism, Sparse hair, Dec... |
ORPHA:127 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... |
ORPHA:572333 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Cryptorchidism, Palmoplantar keratoderma, Prominent scrotal ... |
ORPHA:1555 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Craniosynostosis, Clubbing, Hip dislocation, Joint contracture of the hand |
OMIM:618523 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Low anterior hairline, Death in childhood, Agenesis of corpus ca... |
OMIM:613153 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... |
OMIM:156530 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Ventriculomegaly, Congenital hip dislocation, Abnormal fingernail mo... |
ORPHA:1647 |
Darier-White Disease |
|
Enlargement of parotid gland, Ridged nail, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Frontotemporal Dementia With Motor Neuron Disease |
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Gliosis, Abnormal mitochondrial morphology |
ORPHA:275872 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypog... |
OMIM:241080 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... |
ORPHA:93324 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Synophrys, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology |
ORPHA:1164 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Ne... |
ORPHA:2169 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutane... |
OMIM:236500 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... |
OMIM:224400 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Bilateral single transverse palmar creases, Highly a... |
ORPHA:3253 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Growth delay, Micropenis |
ORPHA:85282 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Sparse eyelashes, Craniosy... |
OMIM:250410 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:615630 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Increased CSF lactate, Ventriculomegaly, Neutropenia |
OMIM:618253 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Cousin Syndrome |
|
Low anterior hairline, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5... |
OMIM:260660 |
Pemphigus Vulgaris |
|
Acantholysis |
ORPHA:704 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea... |
OMIM:603671 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Hypospadias, Cryptorchidism, Synophrys, Frontal upsweep of hair, Decreased testicular size |
OMIM:300997 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Oculodentodigital Dysplasia |
|
Brittle hair, Sparse hair, Clinodactyly of the 5th finger, Abnormality of the nail, Finger syndac... |
ORPHA:2710 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Autoimmunity, Thrombocytopenia, Splenomegaly, L... |
ORPHA:47612 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis |
OMIM:221820 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Growth delay, Sparse hair, Intrauterine growth retar... |
OMIM:610756 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Genu valgum |
ORPHA:488627 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Cockayne Syndrome A |
|
Hip contracture, Dry hair, Hepatomegaly, Short stature, Splenomegaly, Ivory epiphyses of the phal... |
OMIM:216400 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Short stature, Hip dislocation, Cutis laxa, Talipes equinovarus, Spar... |
OMIM:219150 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ... |
OMIM:606545 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Gliosis, Decreased testicular size |
ORPHA:457240 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Pos... |
OMIM:611717 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Short stature |
ORPHA:2301 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Broad hallux, Short stature, Sandal gap, Highly arc... |
OMIM:600987 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ventriculomegaly, Thrombocytopenia, Lateral ventricle dilatation |
ORPHA:572798 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Megaloblastic anemia, Tremor... |
OMIM:222300 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Highly arched eyebrow, Broad 2nd toe, Palmoplantar hyperkeratosis, Fine hair, Acute... |
OMIM:280000 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Short stature, Camptodactyly of finger, Triphalangeal thumb, D... |
ORPHA:2994 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Lateral ventricle dilatation, Contracture of th... |
ORPHA:457279 |
Lelis Syndrome |
|
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Nail dys... |
ORPHA:140936 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, White hair, Abnormal hip bone morpholo... |
ORPHA:2720 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, C... |
ORPHA:1865 |
Teebi Hypertelorism Syndrome 1 |
|
Short stature, Highly arched eyebrow, Widow's peak, Hydrocele testis, Bicornuate uterus, Shawl sc... |
OMIM:145420 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormality of the spleen... |
ORPHA:1834 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Split hand, Intrauterine growth r... |
ORPHA:2145 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Decreased skull ossification |
OMIM:601163 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Supernumerary nipple,... |
ORPHA:3255 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Short stature, Concave nail, Cryptorchidism, Fine hair, Growth delay, Small nail, Mi... |
OMIM:300978 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... |
ORPHA:436252 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Adducted thumb |
OMIM:307000 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... |
ORPHA:2751 |
Thymoma |
|
Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Anti-acetylcholine rece... |
ORPHA:99867 |
Riddle Syndrome |
|
Short stature, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Restrictive ventilato... |
ORPHA:420741 |
Shukla-Vernon Syndrome |
|
Sparse hair, Long fingers, Tapered finger |
OMIM:301029 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne... |
ORPHA:391487 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospadias, Long eyelashes, An... |
ORPHA:2863 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... |
ORPHA:3082 |
Pachyonychia Congenita |
|
Alopecia, Palmoplantar blistering, Paronychia, Onychogryposis of toenails, Linear arrays of macul... |
ORPHA:2309 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... |
OMIM:300963 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retardation, Micropenis |
OMIM:612626 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Ventriculomegaly, Anemia, Gliosis, Basal ganglia gliosis, Thrombocytopenia |
OMIM:614946 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Overlapping toe, Small hand, Short foot, Lateral ventricle dilatation, ... |
ORPHA:177907 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Erythema, Cutaneous abscess |
OMIM:147060 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Shawl scrotum, Micropenis |
OMIM:617516 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Patchy alopecia, Short stature, Decreased testicular size |
ORPHA:85279 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Sh... |
ORPHA:53271 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... |
OMIM:615688 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism,... |
ORPHA:2083 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Absent circulating ... |
OMIM:307200 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Leigh Syndrome |
|
Gliosis, Hypertrichosis, Hepatocellular necrosis |
OMIM:256000 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Short stature, Cryptorchidism, Low anterior hairline, Severe postnatal growth reta... |
OMIM:615663 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Postnatal growth retardation, Adducted thumb, Hip dislocation, Cutis laxa, Talipes eq... |
OMIM:616603 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Hypospadias |
OMIM:310465 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ventriculomegaly |
OMIM:612936 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys, Aplastic/hypoplasti... |
ORPHA:1295 |
Bardet-Biedl Syndrome 1 |
|
Asthma, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular... |
OMIM:209900 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Wells Syndrome |
|
Skin vesicle, Eosinophilia |
ORPHA:901 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hypoplastic is... |
OMIM:617866 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Micropenis, Hypospadias |
OMIM:618840 |
Diencephalic Syndrome |
|
Large hands, Hydrocephalus |
ORPHA:1672 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Growth... |
OMIM:608800 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Anti-thyroid peroxid... |
ORPHA:228426 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Psoriasiform lesion, Nail pits, Abnormal shoulder morphology, Sacroiliac arthr... |
ORPHA:85436 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Low posterior hairline, Shawl scrotum |
ORPHA:1778 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Thin nail, Growth delay, Neutropenia, Sparse hair, Dry skin |
OMIM:617799 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Epidermal acanthosis |
OMIM:618527 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Abnormal fingernail morphol... |
ORPHA:678 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Splenomegaly, Hydrocephalus, Coarse hair, Ichthyosis, Broad thumb, Thick ey... |
ORPHA:585 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Ambiguous genitalia, Abnormal p... |
ORPHA:168593 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short neck, Pectus excavatum, Hyperkeratosis, Scoliosis |
OMIM:615279 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Syndactyly, Clinodactyly, Hirsutism |
OMIM:618087 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mild postnatal growth retardation, Single transverse palmar crease, Sparse hair, Clin... |
OMIM:150230 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Skin ulcer, Abnormal lymphatic vessel morphology, Hypertr... |
ORPHA:90307 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Colpocephaly, Pallor, ... |
OMIM:609053 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Sparse eyebrow, Synophrys, Retractile testis, Gliosis, Scoliosis, Arthrogryposis multiplex congen... |
OMIM:617193 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail morphology... |
ORPHA:1908 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Schizophrenia 1 |
|
Syndactyly, Short stature, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Cryptorchidism, Low posterior hairline, Growth delay, W... |
OMIM:613224 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Acanthosis nigricans, Hydrocephalus |
OMIM:612247 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormal metacar... |
ORPHA:3224 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Stt3B-Cdg |
|
Respiratory distress, Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis |
ORPHA:370924 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Hypospadias, Short stature, Cryptorchidism, Widow's peak, Lo... |
OMIM:304110 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Spinocerebellar Ataxia 17 |
|
Gliosis |
OMIM:607136 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Generalized bone demineralization,... |
ORPHA:199299 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ... |
ORPHA:175 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Intrauterine growth retardation |
OMIM:616353 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Bohring-Opitz Syndrome |
|
Syndactyly, Short stature, Overlapping toe, Ulnar deviation of the wrist, Mesomelic/rhizomelic li... |
OMIM:605039 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Autoimmunity, Splenomegaly, Lymph... |
ORPHA:36412 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Preaxial hand polydactyly, Hand... |
ORPHA:2316 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Fine hair, Growth delay, Delayed puberty, Sparse hair, Int... |
OMIM:616817 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Horizontal ribs, Cryptorchidism, Patent ductus arteriosus, Bell-shaped thorax, N... |
OMIM:614857 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Short stature, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 ... |
OMIM:257850 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Acanthosis nigricans, Hydrocephalus, Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis |
OMIM:615597 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Micrognathia, Cryptorchidism, Short toe, Flexion contracture, Tal... |
ORPHA:98791 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Abnormality of the nail, ... |
ORPHA:1300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Small scrotum, Cryptorchidism, Synophrys, Hirsutism, Broad nail, Thick eyebrow |
ORPHA:1970 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation |
ORPHA:228390 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... |
OMIM:615633 |
Prolidase Deficiency |
|
Hepatomegaly, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Systemic lupus erythematosu... |
OMIM:170100 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Hydrocephalus |
ORPHA:1516 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Short stature, Highly arched eyebrow, Cryptorchidism, Male pseudohermaphroditism, Pa... |
ORPHA:2282 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Spar... |
OMIM:300953 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Absent fifth fingernail, Short stature, Cryptorchidism, Low anterior hairline,... |
OMIM:614607 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
Macs Syndrome |
|
Alopecia, Short stature, Single transverse palmar crease, Redundant skin, Sparse eyebrow, Osteopo... |
OMIM:613075 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Cryptorchidism, Hydrocephalus, Radioulnar synostosis, S... |
ORPHA:171839 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachyd... |
OMIM:617763 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Hyperke... |
OMIM:604173 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Gro... |
OMIM:619762 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Dry skin, Abnormality of ... |
ORPHA:428 |
Incontinentia Pigmenti |
|
Finger syndactyly, Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, ... |
ORPHA:464 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinoph... |
OMIM:256500 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ulnar deviation of the hand, Proximal placement of thumb, Clinodac... |
OMIM:620113 |
Gaucher Disease, Perinatal Lethal |
|
Ventriculomegaly, Thoracic hypoplasia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hyperk... |
OMIM:608013 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Thickened skin, L... |
ORPHA:1252 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal bone ossification, Short pha... |
ORPHA:99646 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis |
OMIM:618369 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Histiocytosis, Microcytic anemia, Hydroceph... |
ORPHA:168569 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malformation |
OMIM:147800 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thumb |
ORPHA:2182 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Short stature, Highly arched eyebrow, Cryptorchidism, Synophrys, Growth dela... |
ORPHA:228402 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis |
OMIM:300857 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Cryptorchidism, Ventral shortening of foreskin, Displacement of the urethral meatu... |
ORPHA:95706 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Patent ductu... |
OMIM:261540 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:618174 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H... |
ORPHA:470 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Rhizomelia, Redundant skin, Hydrocephalus, Acanthosis nigricans, Femoral bowing, T... |
OMIM:616482 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Hypoplastic toenails, Portal vein thrombosis, Hypersplenism, Splenomeg... |
OMIM:616028 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Growth delay, Abnormal epiphysis morphology, Pr... |
ORPHA:90674 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Hydrocephalus, Polysplenia, Abnormal sperm motili... |
ORPHA:244 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Abnormal fallopi... |
ORPHA:3097 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Sparse eyebrow, Lateral ventricle dilatation, Polydactyly, ... |
OMIM:619869 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Thick eyebrow, Coxa valga, Hydrocephalus, Colpocephaly, Hammertoe,... |
OMIM:619833 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Adducted thumb, Arachnodactyly, Shoulder dislocation |
ORPHA:2181 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Short stature, Redundant skin, Congenital hip dislocation, Thick hair, Postn... |
ORPHA:357074 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalan... |
ORPHA:73230 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Intrauterine growth retardation |
ORPHA:85173 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ventriculomegaly, Limb joint contracture, Splenomegaly, Flexion contracture, Gliosis, Scoliosis, ... |
OMIM:301072 |
Gm1 Gangliosidosis |
|
Short stature, Patent ductus arteriosus, Abnormality of the scrotum, Aspiration pneumonia, Genera... |
ORPHA:354 |
Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Abnormal thorax morphology, D... |
ORPHA:902 |
Cowden Syndrome 6 |
|
Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5th finger |
ORPHA:254516 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Retinal dystrophy, Preaxial hand polydactyly, Posta... |
OMIM:263520 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... |
ORPHA:330015 |
Hydroxykynureninuria |
|
Dry skin |
ORPHA:79155 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
Noonan Syndrome 2 |
|
Curly hair, Short neck, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Sparse eyebro... |
OMIM:605275 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Sparse pubic hair, Cryptorchidism, Azoospermia, Mic... |
OMIM:308700 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Dry skin, Prolonged neonatal jaundice |
ORPHA:99832 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Camptodactyly of finger, Cryptorchidism, Kyphosis, Abnormal rib mor... |
ORPHA:628 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Bifid scrotum, Hypoplastic toenails |
ORPHA:1547 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Widow's peak, Short foot, Reduction of neutrophil motility, Brachydactyly |
OMIM:266265 |
Chime Syndrome |
|
Aplastic clavicle, Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Sk... |
ORPHA:3474 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Postaxial hand polydactyly |
ORPHA:83473 |
Q Fever |
|
Hepatomegaly, Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin I... |
ORPHA:781 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
Ifap Syndrome 2 |
|
Sparse hair, Atrichia, Nail dystrophy, Perioral erythema |
OMIM:619016 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Death in infancy, Nail dystrophy, Nail dysplasia, Syndactyly |
OMIM:226700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Short stature, Highly arched eyebrow, Dyspnea, Patent ductus arteriosus, Pulmonary arterial hyper... |
ORPHA:261279 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Autoimmunity |
ORPHA:33577 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Deep palmar crease, Adducted thumb |
ORPHA:293725 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Polydactyly, Small n... |
ORPHA:313781 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Gliosis, Ventriculomegaly |
OMIM:604377 |
Sheehan Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Normochromic anemia, Pallor, Dry skin, Breast hypoplasia |
ORPHA:91355 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Gliosis, Inguinal hernia |
OMIM:614498 |
3Mc Syndrome 3 |
|
Bifid scrotum, Short stature, Highly arched eyebrow, Cryptorchidism, Growth delay, Micropenis, Pe... |
OMIM:248340 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus |
ORPHA:401815 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Kbg Syndrome |
|
Short stature, Abnormal hair pattern, Cryptorchidism, Synophrys, Webbed neck, Thick eyebrow |
ORPHA:2332 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... |
ORPHA:168549 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism, Short stature, Webbed neck |
OMIM:301950 |
Weiss-Kruszka Syndrome |
|
Single transverse palmar crease, Highly arched eyebrow, Proximal placement of thumb, Colpocephaly... |
OMIM:618619 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acantholysis, Erythema, Skin ulcer, Restrictive ventilatory defect, Cough, ... |
ORPHA:537 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubuloi... |
ORPHA:358 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis |
OMIM:604484 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to ... |
OMIM:129900 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus, Anemia |
ORPHA:99927 |
Short Syndrome |
|
Alopecia, Severe short stature, Excessive wrinkled skin, Short palm, Sparse hair, Brachydactyly |
ORPHA:3163 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Partial agenesis of the corpus callosum, Low anterior hairline, Hirsutism, Long eyelashes, Sparse... |
OMIM:616819 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t... |
ORPHA:198 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Postaxial hand polydactyly, Dandy-Walker malformation |
OMIM:220220 |
Noonan Syndrome 10 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Hyperkeratos... |
OMIM:616564 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Follicular hyperkeratosis |
OMIM:613736 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Microcytic anemia, Insulin-resistant di... |
ORPHA:2959 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Alopecia, Short stature, Absent e... |
OMIM:264090 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Cellulitis |
OMIM:615907 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death |
OMIM:620014 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Facial wrinkling, Broad hallux, Wide ... |
OMIM:305450 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Short stature, Hypospadias, Anonychia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1784 |
Rat-Bite Fever |
|
Lymphadenitis, Scaling skin, Anemia, Pancreatitis |
ORPHA:31205 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... |
OMIM:613807 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Growth delay, Progressive clavicular acroosteolysis, Osteolytic defects o... |
OMIM:608612 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Alopecia ... |
OMIM:615280 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogonadism |
ORPHA:250999 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Synophrys, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Brachydactyly |
OMIM:620156 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Short stature, Narrow palm, Small hand, Clinodactyly |
ORPHA:1445 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Short stature, Short nail, Craniosynostosis, Accessory carpal b... |
ORPHA:503 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Abnormal rib mor... |
ORPHA:3378 |
Atopic Keratoconjunctivitis |
|
Dry skin, Loss of eyelashes |
ORPHA:163934 |
Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Broad hallux, Tapered finger, Cryptorchidism, Small hand, Genu valgum, Lateral ventri... |
OMIM:615873 |
Bethlem Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Multiple joint contractures, Interphalangeal joint contra... |
ORPHA:610 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Broad hallux, Postnatal growth retardation, Slender finger, Small hand, Tibial bowing... |
ORPHA:251028 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Short stature, Abnormal hair pattern, Small hand, Coarse hair, ... |
ORPHA:1786 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Red hair, Mild short stature, Fair hair, Intrauterine growth retarda... |
OMIM:614613 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Congenital hip dislocation, Short stature, Sparse eyelashes, Sparse sca... |
OMIM:268400 |
Joubert Syndrome 37 |
|
Sparse hair, Hepatomegaly, Short stature, Postaxial polydactyly |
OMIM:619185 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:3242 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Splenomegaly, Hydrocephalus, Ichthyosis, Increased CSF protein concentration, Broad... |
OMIM:272200 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... |
OMIM:158330 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnorma... |
ORPHA:2180 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short stature, Symphalangism affecting the phalanges of the han... |
ORPHA:710 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Dentinogenes... |
OMIM:259440 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Hypoplastic toenails, Hydrocephalus, Small hand, Camptodactyly... |
ORPHA:459061 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Arachnodactyly, Sparse hair, Toe clinodactyly |
OMIM:619910 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Low posterior hairline, Hyp... |
ORPHA:2983 |
Peters Plus Syndrome |
|
Sacral dimple, Inguinal hernia, Hypospadias, Short neck, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:709 |
Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Osteolytic defects of the distal phalanges of the hand, S... |
ORPHA:2457 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Kyphoscoliosis |
OMIM:618339 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with 46,XY karyotyp... |
ORPHA:90791 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom... |
ORPHA:60040 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, Flared metaphys... |
OMIM:252100 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe... |
OMIM:258360 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Reduced vital capacity, Respiratory insufficiency, Webbed neck |
ORPHA:178148 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Impotence, Gliosis, Autonomic erectile dysfunction |
OMIM:169500 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Webbed neck |
OMIM:606851 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... |
OMIM:300991 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Gray matter heterotopia, Gliosis, Hepatic periportal necrosis |
ORPHA:26791 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Short stature |
ORPHA:85321 |
Cohen Syndrome |
|
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Tapered finger, Cubitus valgus, Abn... |
ORPHA:193 |
Noonan Syndrome 9 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Webbed neck |
OMIM:616559 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Postnatal growth retardation, Small hand, Clinodactyly of the 5th finger |
OMIM:616489 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Small nail, Hepatic cysts |
OMIM:263630 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Hypospadias, Supernumerary nipple, Low anterior hairline, Glandular hypospad... |
OMIM:604314 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand cl... |
OMIM:617822 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Hand polydactyly, Foot polydactyly, Ichthy... |
ORPHA:457 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly |
ORPHA:1914 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Finger syndactyly, Distichiasis |
ORPHA:1997 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Acantholysis, Dyspnea, Erythema, Restrictive ventilatory defect, Cough |
ORPHA:36426 |
3M Syndrome |
|
Scapular winging, Thick eyebrow, Hypospadias, Abnormal dental enamel morphology, Short neck, Hype... |
ORPHA:2616 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Acanthosis nigricans, Anemia, Limb undergrowth, Sparse hair, Clinodactyly, Lympho... |
OMIM:616541 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Follicular hyperkeratosis, Nail dysplasia, S... |
OMIM:158310 |
Rin2 Syndrome |
|
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Redundant ski... |
ORPHA:217335 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin, Short stature |
ORPHA:3157 |
Digeorge Syndrome |
|
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Low anterior hairline, Mic... |
OMIM:614222 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse h... |
OMIM:252900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Anti-thyroi... |
ORPHA:37042 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Alopecia totalis, Absent thumb, Hypoplastic toenails, Aplasia/... |
ORPHA:1234 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Low posterior hairline, Abnormal hip b... |
ORPHA:1323 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... |
ORPHA:2636 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Metaphyseal widening, Sparse hair, Hepatomegaly, Sparse eyebrow, Split ... |
OMIM:252500 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Hepatic fibrosis, Sparse hair, Hepatomegaly, Rhizomelia, Thin na... |
OMIM:218330 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypo... |
OMIM:230500 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Precocious puberty, Gliosis, Umbilical hernia, Ventriculomegaly |
ORPHA:261652 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Diaphyseal sclerosis, Hepatosplenomega... |
OMIM:259710 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Thick eyebrow, Short stature, Proximal placement of thumb, Coxa valga, Postnatal grow... |
OMIM:212066 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic girdle bone morphology,... |
ORPHA:1788 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasia/Hypoplasia of the mid... |
OMIM:151050 |
Alg11-Cdg |
|
Dry skin |
ORPHA:280071 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, P... |
OMIM:607361 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Thrombocytopenia, Splenomegaly, Osteoporosis, Fine hair, Cutis laxa,... |
OMIM:222700 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Postnatal growth retardation, Adducted thu... |
ORPHA:2962 |
Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... |
ORPHA:550 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... |
OMIM:272950 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Curly eyelashes, Osteoporosis,... |
ORPHA:1517 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Short stature, Thick hair, Highly arche... |
OMIM:605130 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, Cryptorchidism, Primary amen... |
ORPHA:293967 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral morph... |
ORPHA:280195 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Cryptorchidism, Growth delay, Long eyelashes, Absent axillary hair, Breast hypopla... |
OMIM:601353 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Rhizo-mes... |
ORPHA:163654 |
Iga Pemphigus |
|
Skin vesicle, Acantholysis |
ORPHA:555905 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Short stature, External genital hypoplasia, Cryptorchidism, Neonatal death |
OMIM:613390 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Ventriculomegaly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, ... |
OMIM:614701 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Emphysema, Hypo... |
OMIM:224690 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Sta... |
OMIM:118450 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pe... |
ORPHA:1426 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... |
ORPHA:79239 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Hypoplastic toenails, Cryptorchidism, Hy... |
ORPHA:261344 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Synophrys, Abnormal tibia morphology, Low anterior hairline, Short palm, Cl... |
ORPHA:251014 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly, Wide anterior fontanel, Thick eyebrow |
OMIM:619736 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Vaginal atresia |
ORPHA:3301 |
Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Craniosynostosis, Long fingers, Low posterior hairline, Large ha... |
OMIM:613174 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Short neck, Pectus ... |
ORPHA:96121 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Postnatal grow... |
OMIM:163950 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly, Decreased testicular size |
OMIM:616222 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Achondrogenesis Type 1B |
|
Femoral hernia, Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia |
ORPHA:93298 |
Rahman Syndrome |
|
Cryptorchidism, High anterior hairline, Redundant skin |
OMIM:617537 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Shawl scrotum |
ORPHA:85277 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Brachydactyly, Highly arched ... |
ORPHA:1001 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Abnormal hair pattern, Highly arched eyebrow, Proximal placement of thumb, Cryp... |
ORPHA:261250 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Highly arched eyebrow, Proximal placement of thumb, ... |
OMIM:613776 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Short stature, Cryptorchidism, Synophrys, Long eyelashes, Thin eyebrow, Hypoplastic male external... |
ORPHA:502434 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Short stature, Webbed neck |
ORPHA:638 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Short stature, Hyperconvex nail, Cryptorchidism, Synophrys, Low anterior hairline, H... |
OMIM:300004 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Postnatal growth retardation,... |
OMIM:614732 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... |
OMIM:620197 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, White forelock, Spina bifida occulta |
ORPHA:2475 |
D-Bifunctional Protein Deficiency |
|
Ventriculomegaly, Pectus excavatum, Splenomegaly, Gliosis, Polymicrogyria, Thoracic hypoplasia |
OMIM:261515 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... |
OMIM:614874 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Colpocephaly, Polymicrogyria, Scoliosis |
OMIM:618731 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Death in child... |
OMIM:612938 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... |
ORPHA:398079 |
Bloom Syndrome |
|
Syndactyly, Elevated hemoglobin A1c, Postnatal growth retardation, Facial erythema, Growth delay,... |
OMIM:210900 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Intrauterin... |
ORPHA:887 |
Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Hydr... |
OMIM:100800 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Chand Syndrome |
|
Short fifth metatarsal, Curly hair, Dry skin, Nail dysplasia |
ORPHA:1401 |
Aicardi Syndrome |
|
Proximal placement of thumb, Spina bifida, Partial agenesis of the corpus callosum, Choroid plexu... |
OMIM:304050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Craniosynostosis, Tapered finger, High... |
OMIM:608156 |
Blepharocheilodontic Syndrome 2 |
|
Distichiasis, Nail dysplasia, Cutaneous syndactyly |
OMIM:617681 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Thickened skin, Synoph... |
ORPHA:96123 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Distal Duplication 18Q |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia, Abnormal hair pattern |
ORPHA:1716 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Addison Disease |
|
Normocytic anemia, Sparse axillary hair, Thiamine-responsive megaloblastic anemia, Thymoma, Gener... |
ORPHA:85138 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph... |
OMIM:260400 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Hepatocellular carcinoma, Clinodactyly of the... |
OMIM:180860 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Growth delay, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Omodysplasia 2 |
|
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... |
OMIM:164745 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:610227 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Short stature, Displacement of the urethral meatus |
ORPHA:893 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse ha... |
OMIM:252930 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Epidermal acanthosis |
OMIM:616069 |
Martin-Probst Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis |
OMIM:300519 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Hyposegmentation o... |
OMIM:618019 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin |
OMIM:619306 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Upper airway obstruction, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, 2-3 toe syndactyly, P... |
OMIM:106260 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Congenital hip dislocation, Highly arched eyebrow, Autoimmune thrombocytopenia,... |
OMIM:147920 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Thrombocytopenia, Bone marrow hypocellularity, Small nail, Neutropenia, Anemia |
OMIM:614520 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails |
OMIM:242150 |
Barber-Say Syndrome |
|
Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, G... |
ORPHA:1231 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Hyperextensibility of the finger joints, Slow-growing hair, Absent ey... |
OMIM:115150 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Short stature, Abnormal hip bone morphology, Clinodactyly of the 5th f... |
ORPHA:3068 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp... |
ORPHA:91138 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Hydrocephalus |
OMIM:300558 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:604292 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Abnormality of th... |
ORPHA:847 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, High anterior hairline, Growth delay, Hypoplastic nip... |
OMIM:615546 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Spleno... |
ORPHA:567 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Gliosis, Neutropenia, Frontal hirsutism, Agenesis of corpu... |
ORPHA:506 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Dandy-Walker malformation, Low posterior hairline |
OMIM:220210 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short stature, Abnormal distal phalanx morphology of fin... |
ORPHA:783 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Ventriculomegaly |
OMIM:609757 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Lymphangioma |
OMIM:149000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Parathyroid hypopl... |
ORPHA:2237 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Abnormal lateral ventricle morphology, Autoimmune hemolytic ... |
ORPHA:1855 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Hydro... |
OMIM:227646 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Absent pubic hair, Hyper... |
OMIM:148210 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Eosinophilia, Craniosynostosis, Abnormal hair morphology, Paronychia, Skin ulcer, Ski... |
ORPHA:2314 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Elbow flexion contracture, Broad palm, Lateral ventricle dilat... |
OMIM:300868 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasia of ... |
ORPHA:110 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Hepatic periportal necrosis, Pachygyria, Gliosis |
OMIM:231680 |
Spinocerebellar Ataxia 32 |
|
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Hydrocephalus, Short toe, Anencephaly, Br... |
OMIM:269860 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hydrocephalus, Hip dislocation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Hand clenching, Fine hair, Talipes equinovarus, S... |
OMIM:617988 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Calf muscle hype... |
OMIM:313200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Splenomegaly, Leukocytosis, Hydroce... |
OMIM:259720 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteri... |
ORPHA:2745 |
Juvenile Dermatomyositis |
|
Alopecia, Erythema, Dry skin, Skin ulcer |
ORPHA:93672 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Autoimmune antibody positivity, Lymphadenopathy |
ORPHA:3386 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Hypospadias, Highly arched eyebrow, Abnormal rib morphology, Scolios... |
ORPHA:2319 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External g... |
ORPHA:98754 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus arterio... |
OMIM:609625 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Sparse eyelashes, Unilateral cryptorchidism, Micrognathia, Persistence of hemo... |
OMIM:300946 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... |
OMIM:610199 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Absent thumb, Thrombocytopenia, Hydrocephalus, Bilateral radia... |
OMIM:300514 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Sparse eyebrow, Short palm, Intrauterine growt... |
ORPHA:73246 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Femur fracture, Splenomegaly, Hydrocephalus, Flared metaphysis, Coxa vara, Anemia, ... |
OMIM:259700 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Dry skin, Sparse axillary hair, Delayed puberty |
ORPHA:95409 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Short stature, Sparse axillary hair, Sparse pubic hair, Cryptorchidis... |
OMIM:613803 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Short stature, Abnormality of the hand, Low anterior hairline, Frontal upsweep of hai... |
ORPHA:369891 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
German Syndrome |
|
Abnormal eyebrow morphology, Short stature, Cryptorchidism, Synophrys, Ambiguous genitalia |
ORPHA:2077 |
3C Syndrome |
|
Death in infancy, Finger syndactyly, Hypoplastic fingernail, Hydrocephalus, Hand polydactyly, Abn... |
ORPHA:7 |
B4Galt1-Cdg |
|
Splenomegaly, Hydrocephalus, Redundant neck skin, Dandy-Walker malformation |
ORPHA:79332 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplasia, Frontal upsweep of ha... |
OMIM:612582 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Short stature, Decreased response to growth hormone stimulation test, Supernumerary nipple, Highl... |
OMIM:213980 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Hepatomegaly, Brittle hair, Short stature, Thrombocytosis, Increased mean platelet vo... |
OMIM:222470 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Patent ductus... |
OMIM:243310 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Small nail, M... |
OMIM:140000 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Sparse hair, Syndactyly, Hepatomegaly, Rhizomelia, Short stature, Sparse eyebrow, Bi... |
OMIM:613610 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Synophrys, Deep palmar crease,... |
ORPHA:254346 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Follicular hyperkeratosis |
OMIM:615147 |
Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Brachydactyly, Overlapping toe, Single transverse palmar crease, Highly arched... |
ORPHA:221120 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Synophrys, Toe syndactyly |
ORPHA:261272 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Abscess,... |
ORPHA:125 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... |
ORPHA:478 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
X Small Rings |
|
Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb undergrowth, Reduced... |
ORPHA:96201 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Dislocated radial head, Rhizomelia, Spatulate thumbs, Bilateral elbow dislo... |
OMIM:245600 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Mesenteric cyst, Overlapping toe, Highly arched eyebrow, Long fingers, Synophrys, Cutan... |
OMIM:618316 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Autoimmunity, Mediastinal lymphadenopathy, Splenomegaly, Lymphade... |
ORPHA:809 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Short stature, Cryptorchidism, Penoscrotal transposition, Patent duct... |
OMIM:619148 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External g... |
ORPHA:98793 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Gliosis, Thrombocytopenia |
ORPHA:3240 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse lateral eyebrow |
OMIM:619955 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Radial dysplasia, Anemia, Absent thumb |
OMIM:617244 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ... |
OMIM:612561 |
Cerebrofaciothoracic Dysplasia |
|
Thick eyebrow, Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivertebrae, Low poste... |
ORPHA:1394 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Abnormal 5th finger morphology, Growth delay, Dystrophic toenail, Symphalangism of th... |
ORPHA:1439 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Lateral ventricle dilatation, Thick eyebrow |
OMIM:618367 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Adducted thumb |
ORPHA:275543 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Ovarian cyst, Hyperkeratosis, Acanthosis nig... |
OMIM:246200 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Short stature, Decreased palmar creases, Abnormal fi... |
ORPHA:2980 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly, Neona... |
OMIM:314390 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External g... |
ORPHA:177904 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Ambiguou... |
OMIM:257300 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, Abnormali... |
ORPHA:221 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Gliosis, Ventriculomegaly |
OMIM:618321 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Brachydactyly |
ORPHA:377 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow |
OMIM:224900 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External g... |
ORPHA:177901 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Hepatosplenomegaly, Polydactyly, Generalized hypertrichosis, Petechiae |
ORPHA:93400 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Postnatal growth retardation, Cryptorchidism, Low anterior hairline, Hypoplastic l... |
OMIM:614225 |
Lig4 Syndrome |
|
Psoriasiform dermatitis, Cryptorchidism, Asthma, Low anterior hairline, Micropenis, Chronic sinus... |
OMIM:606593 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bifid scrotum, Small scrotum, Short nail, Hypoplastic labia minora, Hypoplastic labia majora, Lon... |
ORPHA:324540 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... |
OMIM:181450 |
Tyshchenko Syndrome |
|
Short stature, Thick hair, Supernumerary nipple, Cryptorchidism, Low anterior hairline, Intrauter... |
OMIM:615102 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... |
OMIM:181000 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Gliosis |
OMIM:109150 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, H... |
OMIM:194190 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Cryptorchidism, Growth delay, Severe intrauterine growth retardation, Micropenis |
ORPHA:363659 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Pectus excavatum, Abnormal hair whorl, Hydrocephalus, Aplasia of the vagina, Sco... |
ORPHA:457284 |
Prader-Willi Syndrome |
|
Hypoventilation, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External... |
OMIM:176270 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Redundant skin, Hydrocephalus, Lack of skin... |
OMIM:612940 |
Lig4 Syndrome |
|
Hypoplasia of penis, Abnormality of chromosome stability, Cryptorchidism, Erythema, Low anterior ... |
ORPHA:99812 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ... |
ORPHA:95699 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Redundant neck skin, Hypospadias, Hypoplastic labia majora, ... |
OMIM:123790 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... |
OMIM:610628 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Sparse pubic hair, Cryptorchidism, Micropenis, Testicular atrophy |
OMIM:308750 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Sparse eyebrow, Cryptorchidism, High anterior hairline, Shawl scrotum, Micropenis |
OMIM:300895 |
Rhombencephalosynapsis |
|
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... |
ORPHA:59315 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hair, Joint contracture... |
OMIM:164200 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... |
OMIM:618801 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Craniosynostosis, Single transverse palmar crease, Growth delay, Sever... |
OMIM:614114 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Aqueductal stenosis, Splenomegaly, Abnormal rib morph... |
ORPHA:3035 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Poland Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Cryptorchidism, Kyphosi... |
ORPHA:2911 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ... |
ORPHA:481 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Aqueductal stenosis, Absent lower eyelas... |
OMIM:154400 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Short tho... |
ORPHA:582 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Congenital diaphragmatic hernia, Short neck, ... |
ORPHA:958 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis |
OMIM:256600 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Hypophosphatasia |
|
Abnormal rib morphology, Narrow chest, Anemia |
ORPHA:436 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Trisomy 17P |
|
Tapered finger, Hydrocephalus, Low posterior hairline, Clinodactyly of the 5th finger, High anter... |
ORPHA:261290 |
Glass Syndrome |
|
Arachnodactyly, Short stature, Anterior tibial bowing, Long eyelashes, Talipes equinovarus, Nail ... |
OMIM:612313 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Abnormal rib morphology, Abnormal... |
ORPHA:2519 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
6Q Terminal Deletion Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hypospadias, Highly arched eyebrow, Phimosis, Periventricular het... |
ORPHA:75857 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Alopecia, Short stature, Erythema, Dry skin |
ORPHA:910 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventriculomegaly, Camptodactyly of finger, Short neck, Asplenia, Cryptorchid... |
ORPHA:99776 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Decre... |
OMIM:610198 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Frontal balding, Hypogo... |
OMIM:160900 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Ohdo Syndrome |
|
Sparse eyebrow, Cryptorchidism, Small scrotum, Short stature |
OMIM:249620 |
Xfe Progeroid Syndrome |
|
Severe short stature, Dry skin |
OMIM:610965 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchidism, Bicornuat... |
ORPHA:2052 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Hepatic cysts |
OMIM:618999 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism |
ORPHA:1552 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the sp... |
ORPHA:991 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid pr... |
OMIM:253000 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Small scrotum, Short stature, Apnea, Cryptorchidism, Fine hair, Clitoral hyper... |
ORPHA:85201 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Splenomegaly, Patent ductus arterio... |
OMIM:608149 |
Halperin-Birk Syndrome |
|
Hip dislocation, Colpocephaly, Long eyelashes, Talipes equinovarus, Death in childhood, Agenesis ... |
OMIM:618651 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Shawl scrotum |
ORPHA:2842 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Precocious p... |
ORPHA:398069 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... |
OMIM:611134 |
Lipoid Proteinosis |
|
Hyperkeratosis, Alopecia of scalp, Thickened skin |
ORPHA:530 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Severe short stature, Hypoplastic fingernail, ... |
ORPHA:2658 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Cryptorchidism, Hydrocephalus, Delayed epi... |
OMIM:101200 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia |
ORPHA:454836 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydrometrocolpos, Vaginal atresia |
OMIM:615989 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Abnormality of the lymphatic system, Spar... |
ORPHA:870 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hype... |
ORPHA:1071 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory system physiology, Severe postnata... |
ORPHA:98905 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Short stature |
ORPHA:220295 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, Tripha... |
ORPHA:124 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Mycetoma |
|
Back pain, Abnormal thorax morphology, Abnormality of the lymphatic system, Abnormal form of the ... |
ORPHA:2583 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Partial absence of specific antibody response to Ha... |
ORPHA:79324 |
Ogden Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Fine hair, Cutis laxa, Aplasia/Hypoplasia of the ey... |
ORPHA:276432 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension... |
ORPHA:171 |
Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... |
OMIM:268130 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae |
ORPHA:64745 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Thickened skin, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Hyperkerat... |
OMIM:601812 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Postnatal growth retardat... |
OMIM:613563 |
Portal Hypertension, Noncirrhotic, 1 |
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Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Tay-Sachs Disease |
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Precocious puberty, Gliosis, Ventriculomegaly, Hepatosplenomegaly |
ORPHA:845 |
Fibrochondrogenesis 1 |
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Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicl... |
OMIM:228520 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Limb joint contracture, Splenomegaly, Achilles tendon contracture, Corneal scarring, Shoulder dis... |
ORPHA:404454 |
49,Xxxxy Syndrome |
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Hypoplasia of penis, Small scrotum, Short stature, Pulmonary embolism, Cryptorchidism, Asthma, Az... |
ORPHA:96264 |
Cardiofacioneurodevelopmental Syndrome |
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Asplenia, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Mucopolysaccharidosis, Type Vii |
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Metatarsus adductus, Splenomegaly, Hydrocephalus, Hirsutism, Genu valgum, Coarse hair, Narrow gre... |
OMIM:253220 |
Acro-Renal-Ocular Syndrome |
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Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hydrocephalus, Metaphyseal widening, Diaphyseal sclerosis, Long eyelashes, Dandy-Walker malformat... |
OMIM:618476 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Finger syndactyly, Single transverse palmar crease, Tapered finger, Severe postnatal growth retar... |
ORPHA:435938 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Inguinal hernia, Patent ductus arteriosus, Undulate ribs, Thin ribs,... |
OMIM:618188 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Curly hair, Sparse scalp hair, Short stature, Cryptorchidism, Hyperkeratosis, Loose anagen hair, ... |
OMIM:607721 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Craniofacial Dyssynostosis With Short Stature |
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Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Achondrogenesis Type 1A |
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Multiple rib fractures, Femoral hernia, Short neck, Short thorax, Narrow chest, Umbilical hernia |
ORPHA:93299 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
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Hypospadias, Glandular hypospadias, Shawl scrotum |
ORPHA:2575 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress, Parakeratosis, Epidermal acanthosis, Biliary hyperplasia, Cryptorchidism, P... |
ORPHA:83617 |
Hennekam Syndrome |
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Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... |
ORPHA:2136 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Sparse scalp hair, Brachydactyly, Supernumerary nipple, Tapered finger, Sparse eyebrow, Cryptorch... |
ORPHA:477993 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Scapular winging, Flexion contracture, Eosinophilia |
OMIM:253600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Multiple rib fractures, Ventriculomegaly, Hypospadias, Beaded ribs, Short neck, Flexion contractu... |
OMIM:616897 |
Fanconi Anemia, Complementation Group L |
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Hypoplastic sacrum, Short neck, Hydrocephalus, Bone marrow hypocellularity, Aplasia of the uterus... |
OMIM:614083 |
Tetrasomy 12P |
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Sparse hair, Short stature, Sparse eyebrow |
ORPHA:884 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Saethre-Chotzen Syndrome |
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Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... |
ORPHA:794 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Osteopenia, Postnatal growth retardation, Talipes cavus equinovarus, Synophrys, Prominent protrud... |
OMIM:300966 |
Stt3A-Cdg |
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Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus |
OMIM:615599 |
Fraser Syndrome 1 |
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Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Extension of hair growth on temple... |
OMIM:219000 |
Khan-Khan-Katsanis Syndrome |
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Ventriculomegaly, Trichiasis, Highly arched eyebrow, Postaxial polydactyly, Colpocephaly, Neutrop... |
OMIM:618460 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Small scrotum, Short stature, External genital hypoplasia, Decreased re... |
ORPHA:739 |
Idiopathic Hypereosinophilic Syndrome |
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Myelofibrosis, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutroph... |
ORPHA:3260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Hydrocephalus |
OMIM:613155 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:397951 |
Manitoba Oculotrichoanal Syndrome |
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Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
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Cryptorchidism, Thin eyebrow, Supernumerary nipple, Intrauterine growth retardation |
OMIM:617635 |
Mucopolysaccharidosis, Type Iiib |
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Thickened ribs, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Hirsutism |
OMIM:252920 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Hepatomegaly, Short stature, Sandal gap, Elevated hemoglobin A1c, Decreased fibular d... |
OMIM:619127 |
Relapsing Fever |
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Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:91547 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Sacral dimple, Inguinal hernia, Hypospadias, Premature thelarche, Pectus excavatum, Cryptorchidis... |
ORPHA:268261 |
Mucopolysaccharidosis, Type Vi |
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Epiphyseal dysplasia, Splenomegaly, Hydrocephalus, Metaphyseal widening, Split hand, Thickened sk... |
OMIM:253200 |
Crouzon Syndrome |
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Acanthosis nigricans, Hydrocephalus |
ORPHA:207 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
9Q33.3Q34.11 Microdeletion Syndrome |
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Small scrotum, Epistaxis, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Patent du... |
ORPHA:495818 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Short neck, Abnormal rib morphology, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral ... |
OMIM:118100 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypospadias, Postnatal growth retardation, Cryptorchidism, Growth delay, Shawl scrotum, Micropenis |
OMIM:301040 |
Hurler Syndrome |
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Abnormal clavicle morphology, Abnormality of the tonsils, Camptodactyly of finger, Short neck, Sp... |
ORPHA:93473 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Proteus-Like Syndrome |
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Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Intellectual Developmental Disorder, Fra12A Type |
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Hyperkeratosis |
OMIM:136630 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... |
OMIM:151210 |
Alexander Disease Type I |
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Hydrocephalus |
ORPHA:363717 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... |
OMIM:618165 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Sparse hair, Dysplastic corpus callosum |
OMIM:620001 |
Pontocerebellar Hypoplasia, Type 2A |
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Congenital contracture, Gliosis |
OMIM:277470 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Aspergillosis |
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Abnormality of the vertebral column, Abnormal rib morphology, Eosinophilia, Neutropenia |
ORPHA:1163 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1488 |
Ciliary Dyskinesia, Primary, 1 |
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Asplenia |
OMIM:244400 |
Tylosis With Esophageal Cancer |
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Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Marshall-Smith Syndrome |
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Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Dea... |
OMIM:602535 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Single transverse palmar crease, 2-3 toe syndactyly, Sparse hair, Agenesis of corpus callosum, Ve... |
OMIM:616449 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty... |
OMIM:147950 |
Houge-Janssens Syndrome 1 |
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Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Metatarsus adductus, Cryptorchidism, Synophrys, Hydrocephalus, Short foo... |
OMIM:607872 |
Blau Syndrome |
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Camptodactyly of finger, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormality of the ... |
ORPHA:90340 |
Achondrogenesis, Type Ia |
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Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... |
OMIM:200600 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypospadias, External genital hypoplasia, Sclerodactyly, Ovotestis, Orthokeratotic hyperkeratosis... |
OMIM:610644 |
48,Xxxy Syndrome |
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Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Asthma, Azoospermia, Hypo... |
ORPHA:96263 |
Generalized Pustular Psoriasis |
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Leukocytosis, Lymphopenia |
ORPHA:247353 |
Staphylococcal Necrotizing Pneumonia |
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Shock, Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concen... |
ORPHA:36238 |
Radial Aplasia, X-Linked |
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Absent radius, Hydrocephalus |
OMIM:312190 |
Primary Sjögren Syndrome |
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Normocytic anemia, Lymphopenia, Chronic active hepatitis, Biliary cirrhosis, Skin ulcer, Lymphade... |
ORPHA:289390 |
Brugada Syndrome 2 |
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Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
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Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
Muscular Dystrophy, Duchenne Type |
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Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ... |
OMIM:310200 |
Greenberg Dysplasia |
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Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b... |
OMIM:215140 |
Pontocerebellar Hypoplasia, Type 7 |
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Single transverse palmar crease, Cryptorchidism, Synophrys, Hydrocephalus, Hirsutism, Ventriculom... |
OMIM:614969 |
Spermatogenic Failure 9 |
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Globozoospermia, Male infertility |
OMIM:613958 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Lateral ventricle dilatation |
ORPHA:2822 |
Tetrasomy 5P |
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Redundant neck skin, Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinova... |
ORPHA:3309 |
Spermatogenic Failure 67 |
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Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
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Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
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Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
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Globozoospermia, Male infertility |
OMIM:619799 |
Ogden Syndrome |
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Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Iron deficie... |
OMIM:300855 |
Fryns Syndrome |
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Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Stillbirth, Bicornuate ute... |
OMIM:229850 |
Heterotaxy, Visceral, 2, Autosomal |
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Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Sclerosteosis 1 |
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Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Triploidy |
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Finger syndactyly, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Uremic Pruritus |
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Dry skin |
ORPHA:94059 |
Coach Syndrome 2 |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
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Gliosis |
OMIM:608033 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Recombinant 8 Syndrome |
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Small scrotum, Redundant skin, Abnormal hair morphology, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:96167 |
Postaxial Acrofacial Dysostosis |
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Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Postnatal g... |
OMIM:263750 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Mend Syndrome |
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Redundant neck skin, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, ... |
OMIM:300960 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Hypoxemia, Hyperechogenic ... |
ORPHA:456312 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Gliosis, Macrogyria |
ORPHA:280210 |
Atrial Fibrillation, Familial, 7 |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Fibrochondrogenesis |
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Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:2021 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Hydrolethalus |
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Micromelia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Agenesis of c... |
ORPHA:2189 |
Acquired Methemoglobinemia |
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Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Severe short stature, Small scrotum, Cryptorchidism, Dyspnea, Hyperconvex fingernails, Fingernail... |
ORPHA:2215 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Congenital hip dislocation, Tapered finger, Hydrocephalus, Delayed epiphyseal ossification, Flare... |
OMIM:616007 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Hypoplasia of penis, Small scrotum, Short stature, Neonatal respiratory distress, Cryptorchidism,... |
ORPHA:2990 |
Short Stature-Micrognathia Syndrome |
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Small scrotum, Short stature, Rhizomelia, Cryptorchidism, Intrauterine growth retardation, Microp... |
OMIM:617164 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
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Hyperconvex nail, Highly arched eyebrow, Tapered finger, Short toe, Hydrocephalus, Delayed ossifi... |
OMIM:239300 |
Duplication Of Urethra |
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Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Chromosome 17Q12 Deletion Syndrome |
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Short stature, Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian c... |
OMIM:614527 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... |
OMIM:600002 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, High iliac wing, Coarse hair, Sparse hair, Decreased skull ossification |
ORPHA:50814 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, Cryptorchidism, Metaphyseal... |
OMIM:620083 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foo... |
OMIM:305600 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses,... |
OMIM:618162 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia... |
ORPHA:2510 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... |
ORPHA:250989 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar... |
OMIM:123450 |
Chromomycosis |
|
Hyperparakeratosis, Atypical scarring of skin, Hyperkeratosis, Hyperkeratotic papule, Lymphangiec... |
ORPHA:182 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Joint h... |
OMIM:617101 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614897 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Intrauterine grow... |
ORPHA:2728 |
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
|
Shawl scrotum |
OMIM:614187 |
Chops Syndrome |
|
Curly hair, Chronic lung disease, Short stature, Thick hair, Cryptorchidism, Patent ductus arteri... |
OMIM:616368 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Renal tubular epithelial necrosis, Hydrocele testis, Impotence, Retrogra... |
ORPHA:49041 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Short stature, Hypoplastic toenails, Cryptorchidism, Patent ductus arteriosus, Hydro... |
OMIM:619522 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Cryptorchidism, Hydrocepha... |
ORPHA:163979 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Highly arched eyebrow, Hydrocephalus, Meningocele, Dandy-Wa... |
OMIM:614424 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Flexion contracture, Thin ribs, Lissencephaly, Polymicrogyria, Agenes... |
OMIM:614833 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Low anterior hairline, Papil... |
OMIM:180849 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Short stature, Abnormal fingernail morphology, Hypoplastic toenails, Cryptor... |
ORPHA:3138 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:603387 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Hyperkeratosis, Abnormal toenai... |
ORPHA:1334 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Gliosis, Ventriculomegaly |
OMIM:252160 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of fi... |
ORPHA:2092 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... |
ORPHA:370959 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Vertebral segmentat... |
ORPHA:96061 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Hydrocephalus, Metaphyseal widening, He... |
OMIM:607014 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Short stature |
OMIM:245800 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Hydrocephalus, Hand polydactyly, Acrokeratosis |
ORPHA:65285 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Myhre Syndrome |
|
Thick eyebrow, Short stature, Overlapping toe, Short toe, 2-3 toe syndactyly, Fine hair, Birth le... |
OMIM:139210 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Clubbing, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hip dislocation, Opisthotonus, Choreoathetosis, Hyperuricemia, Dystonia, Po... |
OMIM:300322 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Aplasia of the ovary |
OMIM:614324 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate |
ORPHA:90065 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Finger clinodactyly, P... |
ORPHA:79474 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, Dandy-Walker m... |
OMIM:256520 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Wide anterior fontanel, Short palm,... |
OMIM:217980 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Sh... |
OMIM:101800 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs |
ORPHA:2759 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... |
OMIM:146510 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Ambiguous genital... |
ORPHA:140 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal rib morphology, Vertebral seg... |
ORPHA:1120 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Orofaciodigital Syndrome I |
|
Syndactyly, Alopecia, Dry hair, Hydrocephalus, Myelomeningocele, Short 2nd toe, Polydactyly, Radi... |
OMIM:311200 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Highly arched eyebrow, Central Y-shaped metacar... |
ORPHA:2754 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:244200 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Follicular hyperkeratosis |
OMIM:254090 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Hypopla... |
ORPHA:246 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Hydrocephalus, Split hand, Low anterior hairline, Abnormal epiphysis morphology, Ab... |
ORPHA:579 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Growth delay, Shawl scrotum, Micropenis |
OMIM:600460 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Hydrocephalus, Split hand, Hepatosplenomegaly, Hypertrichosis |
OMIM:309900 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:2318 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Hernia, Broad ribs |
ORPHA:583 |
Helix Syndrome |
|
Dry skin |
OMIM:617671 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Nail dystrophy, Bone marrow hypocellularity, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morphology, Thickened skin, Hy... |
ORPHA:79430 |
Tenorio Syndrome |
|
Ventriculomegaly, Hydrocephalus, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature, Patent ductus arteriosus, Hydrometrocolpos, Nail dysplasia, ... |
OMIM:617088 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Brittle hair, Short stature, Wide anterior fontanel, High iliac wing, Coarse hair, Sp... |
OMIM:607812 |
1Q44 Microdeletion Syndrome |
|
Synophrys, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... |
ORPHA:400 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Short stature, Redundant skin, Short na... |
OMIM:278250 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Synophrys, Normal pressure hydrocephalus, Congenital finger fl... |
OMIM:620351 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion con... |
OMIM:300232 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Bilateral cryptorchidism, J... |
OMIM:617403 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pedal edema, Fa... |
ORPHA:96253 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Hand polydactyly, Foot polydactyly, Agenesis... |
ORPHA:220493 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Infertility, Varicocele |
ORPHA:71273 |
Aicardi-Goutières Syndrome |
|
Short stature, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomega... |
ORPHA:51 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thick hair, Thrombocytopenia, Hydrocephalus, Thickened skin, Hepatosplenomegaly, Leukopenia, Deep... |
ORPHA:505248 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Cryptorchidism, Patent ductu... |
OMIM:617506 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Ag... |
ORPHA:87 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Arachnodactyly, Absent thumb, Sparse eyebrow, Dysplastic corpus callosum, Slender lon... |
ORPHA:500150 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Ichthyosis, Ventriculomegaly |
OMIM:616038 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... |
OMIM:200980 |
Emanuel Syndrome |
|
Ventriculomegaly, Redundant neck skin, Congenital hip dislocation, Cryptorchidism, Hydrocephalus,... |
ORPHA:96170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydro... |
OMIM:614643 |
Kbg Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Synophrys, Low anterior hairline, Cut... |
OMIM:148050 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... |
OMIM:225790 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia, Short stature, Shawl scrotum |
ORPHA:261265 |
20Q13.33 Microdeletion Syndrome |
|
Growth delay, Hypospadias, Decreased scrotal rugation, Highly arched eyebrow |
ORPHA:261311 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Hand polydactyly, Agenesis of corpus callosum |
ORPHA:220497 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, Postnatal gro... |
ORPHA:138 |
Joubert Syndrome |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:475 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Single transverse palmar crease, Metatarsus adductus, Splenomegaly, Cryptorchid... |
OMIM:614866 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism |
ORPHA:79431 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Pancreatic fibrosis, Retinal degeneration, Conjugated hyperbilirubinemia,... |
OMIM:208500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Spina bifida ... |
OMIM:135900 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Highly arched eyebrow |
OMIM:620157 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm... |
ORPHA:99826 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Split hand, Abnormal tibia morphology, Anencephaly, Aplasia/Hypopla... |
ORPHA:1335 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Hypospadias, Sparse eyebrow, Inability to walk, Sy... |
ORPHA:3063 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus, Preaxial polydactyly, Stillbirth, Agenesis of corpus callosum |
OMIM:243605 |
Melnick-Needles Syndrome |
|
Omphalocele, Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, Ani... |
ORPHA:2484 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Abnormal dental enamel morphology, Kyphosis, Abnormal rib morphology... |
ORPHA:2050 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphade... |
ORPHA:228123 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Sparse hair, Int... |
OMIM:613451 |
Kapur-Toriello Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Hypoplastic labia majora, Intra... |
OMIM:244300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Dysplastic corpus callosu... |
OMIM:618820 |
Mckusick-Kaufman Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Glandular hypospadias,... |
ORPHA:2473 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dry hair, Splenomegaly, Cryptorchidism, Kyphosis, Fine hair,... |
ORPHA:191 |
Familial Acute Necrotizing Encephalopathy |
|
Gliosis |
ORPHA:88619 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum, Abnormal toenai... |
ORPHA:2211 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Hypospadias, Postnatal growth retardation, Cryptorchidism, Pate... |
ORPHA:1465 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail, Pulmonary arterial hypertension, Imperforate hymen |
OMIM:100300 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Narrow palm, 2-3 toe syndactyly, Joint contracture of the 5th finger, Sparse hair, ... |
OMIM:619934 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Short stature, Aplasia/Hypoplasia of the eyebrow, Webbed neck |
ORPHA:1131 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Single transverse palmar crease, Generalized hypertrichosis |
ORPHA:2409 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Diabetes insipidus, Macular coloboma, Elevated amniotic flu... |
ORPHA:423479 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda... |
OMIM:613804 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Hepatic cysts, ... |
ORPHA:284 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Stillbirth, Cutaneous syndactyly |
OMIM:617667 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge... |
ORPHA:84 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Pectus excav... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Pectus excav... |
ORPHA:363958 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, Pos... |
OMIM:264480 |
Schwartz-Jampel Syndrome |
|
Short neck, Low anterior hairline, Pectus carinatum, Wrist flexion contracture, Generalized hirsu... |
ORPHA:800 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
Leprosy |
|
Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the spleen, Testicular mass, L... |
ORPHA:548 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Tapered finger, Synophrys, Increased femoral anteversion, Small hand, Spar... |
OMIM:609460 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, 2-3 toe syndactyly, H... |
ORPHA:401973 |
Aicardi Syndrome |
|
Ventriculomegaly, Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Partial agene... |
ORPHA:50 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Patent ductus arteriosus, Abnormality of the costochondral junction, Atlantoax... |
ORPHA:79345 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor... |
OMIM:157640 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Generalized hirsutism |
ORPHA:626 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Lateral clavicle hook, Pectus excavatum, Cryptorchidism, Hydrocephalus, Thin rib... |
OMIM:182212 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Widow's peak, Proportionate short stature, Shawl scrotum |
OMIM:227330 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Preaxial hand poly... |
ORPHA:261318 |
Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Cellulitis |
ORPHA:79452 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Dilated third ventricle, Ve... |
ORPHA:500055 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Mic... |
OMIM:612289 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Hydrocephalus, Hemiver... |
OMIM:109400 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic ... |
OMIM:616001 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Emanuel Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculom... |
OMIM:609029 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, R... |
OMIM:614935 |
Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Dysplastic corpus callosum, Hydrocephalus, Long eyelashes, Dandy-Walker malformati... |
OMIM:617281 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Postnatal growth retardation, Excessive sk... |
ORPHA:2834 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth |
ORPHA:1861 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty, Micropenis |
OMIM:619326 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Sparse scalp hair, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneo... |
OMIM:620029 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Short stature, Repeated pneumothoraces, Cryptorchidis... |
OMIM:617602 |
Papillorenal Syndrome |
|
Gliosis, Scoliosis |
OMIM:120330 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... |
OMIM:619488 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Splenomegaly, Hydrocephalus, Broad first ... |
OMIM:619534 |
Carpenter Syndrome 2 |
|
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Patent duc... |
OMIM:614976 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Cubitus valgus |
OMIM:104350 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... |
ORPHA:363618 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Small scrotum, Hypospadias, Broad clavicles, Congenital pse... |
OMIM:276820 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hypospadias, Abnormal fingernail morphology, Abnormal hair morphology, Ep... |
ORPHA:289 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Fine hair, Slend... |
ORPHA:444072 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Dilated fourth ventricle, Ventriculomegaly, Bowing of the long bones, Syndactyl... |
OMIM:249000 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ... |
ORPHA:314585 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Walker malformation, Agenesis of corpus c... |
ORPHA:899 |
Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Short stature, Cryptorchidism, Gonadal dysgenesis, Micropenis, Decreased tes... |
OMIM:146390 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Anemic pallor, Short stature, Cryptorchidism, D... |
OMIM:227650 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1836 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Thick eyebrow, Short neck, ... |
OMIM:252940 |
Orofacial Cleft 15 |
|
Sparse eyebrow, Cryptorchidism, High anterior hairline, Sparse eyelashes |
OMIM:616788 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Cryptorchidism, Primary amenorrh... |
ORPHA:95496 |
Plague |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Skin ulcer, Enlarged mesente... |
ORPHA:707 |
Progressive Supranuclear Palsy |
|
Gliosis |
ORPHA:683 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Rocker bottom foot, Tapered finger, Cryptorchidism, Hydrocephalus, Radioulnar ... |
ORPHA:1272 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:219730 |
Marshall Syndrome |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Genu valgum, Sparse hair |
ORPHA:560 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Long palm, Single transverse palmar crease, Sparse eyebrow, Metatarsu... |
OMIM:244450 |
Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Widow's peak, Bicornuate uterus, Abnormality of the... |
ORPHA:2143 |
Diphallia |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... |
ORPHA:227 |
Raine Syndrome |
|
Death in infancy, Bowing of the long bones, Highly arched eyebrow, Micromelia, Hydrocephalus, Neo... |
OMIM:259775 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Abnormal pelvis bone morphology, Thin fingernail, Camptodactyly of fing... |
ORPHA:2273 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Growth delay, Aplasia of the sweat glands, Abnormal hip bone morphology, Dry skin, Tooth... |
ORPHA:642 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Facial wrinkling, Recurrent pancreatitis, Sparse hair, Dry skin |
OMIM:606721 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal dental enamel morphology, Abnormal sacrum ... |
ORPHA:1452 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Erythema, Skin ulcer, Palmoplantar hyp... |
ORPHA:2907 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the odontoi... |
OMIM:253010 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Aqueductal stenosis, Cryptorchidism, Synophrys, Partial agenesis of t... |
OMIM:619512 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia... |
ORPHA:536467 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, Widow's peak, Shawl scrotum, Thi... |
ORPHA:1519 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... |
ORPHA:2886 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Short metatarsa... |
OMIM:216340 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Brachydactyly |
ORPHA:2075 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, Bilate... |
OMIM:619708 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Ambiguous geni... |
ORPHA:96176 |
White-Sutton Syndrome |
|
Short stature, Sparse hair, Intrauterine growth retardation, Broad thumb, Brachydactyly |
OMIM:616364 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Hyperparakeratosis, Abnormality of the lymphatic system, Hydrocele testis, Multiple ... |
ORPHA:276280 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Sparse eyebrow, Cryptorchidism, Small scrotum, Highly arched eyebrow |
ORPHA:1968 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Generalized hypertrichosis, Glandular hypospadias, Lo... |
OMIM:136140 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Short stature, Septate vagina, Precocious puberty, Cry... |
OMIM:270400 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Reduced bone mineral density, Abnormality of the upper limb, I... |
ORPHA:1556 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Anemia, Hyperkeratosis, Palmoplantar kerato... |
ORPHA:2908 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Adactyly, Split hand, Aplasia/H... |
ORPHA:989 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Thin ribs, Platyspondyly, Narrow che... |
OMIM:613848 |
Desmosterolosis |
|
Micromelia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Agenesis of corpus callosum, Ventri... |
ORPHA:35107 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Short nail, Cryptorchidism, Synophrys, Hydrocephalus, Foot acroosteolysis, Osteoly... |
OMIM:102500 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Cryptorchidism, Paten... |
OMIM:206900 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Ventriculomegaly |
OMIM:252150 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Autoimmunity, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroper... |
ORPHA:449432 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Nail ... |
ORPHA:139471 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Slender long bone, Hydrocephalus, Hypertrichosis |
OMIM:618590 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormality of hair texture, Splenomegaly, Hydrocephalus, Pallor, Abnor... |
ORPHA:667 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Rheumatoid factor positive, Glomerulonephritis, Lung abscess, Hypers... |
ORPHA:1304 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Scapular winging, Hyperextensibility of the finger joints, Arachno... |
OMIM:616914 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... |
OMIM:618644 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Hypoplasia of penis, Inguinal hernia, Hypospadias, Camptodactyly o... |
ORPHA:373 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... |
OMIM:618395 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... |
OMIM:101400 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Hydrocephalus, Postaxial ... |
OMIM:605627 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Thick hair, Adenoiditis, Splenomegaly, Hydrocephal... |
ORPHA:581 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, A... |
ORPHA:261537 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Cryptorchidism, Epi... |
ORPHA:2554 |
Alagille Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segment... |
ORPHA:52 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Intrinsic hand muscle atrophy, Hand muscle weakness |
ORPHA:99965 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... |
ORPHA:268 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia |
OMIM:166210 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Single transverse palmar crease, Synophrys,... |
OMIM:619841 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Tapered finger |
ORPHA:2836 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Abnormality of the hairline |
OMIM:614886 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Short neck, Pectus excavatum, Kyph... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Short neck, Pectus excavatum, Kyph... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Short neck, Pectus excavatum, Kyph... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Short neck, Pectus excavatum, Kyph... |
ORPHA:881 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Short stature, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Patent... |
OMIM:618454 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, ... |
ORPHA:77301 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Dry skin |
OMIM:218700 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Hyperextensibility of the finger joints, Redundant neck skin, Thin na... |
OMIM:218040 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
Isotretinoin-Like Syndrome |
|
Lymphopenia |
ORPHA:2306 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Abnormality of secondary sexual hair, Oligozoospermia |
ORPHA:91348 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Anemia, Thin ribs |
OMIM:244460 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Phocomelia, Sparse hair, Wrist flexion contracture, Accessory spleen, Syndactyly... |
OMIM:268300 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... |
ORPHA:2879 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit... |
OMIM:193500 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Dubowitz Syndrome |
|
Syndactyly, Sparse scalp hair, Short stature, Single transverse palmar crease, Aplastic anemia, P... |
OMIM:223370 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis, Ventriculomegaly |
OMIM:618222 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Fucosidosis |
|
Kyphosis, Generalized hyperkeratosis, Lipoatrophy, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Small scrotum, Hypospadias, Short neck, Hypoplastic labi... |
OMIM:269150 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Clinodactyly of th... |
OMIM:147791 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Highly arched eyebrow, Splenomegaly, Hydrocephalus, Postaxial hand polyd... |
ORPHA:1454 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Distal Triplication 15Q |
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Arachnodactyly, Hydrocephalus, Hydrocele testis, Camptodactyly, Dandy-Walker malformation |
ORPHA:314588 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Erythema, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Short stature, Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Intrau... |
OMIM:300707 |
Monosomy 18Q |
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Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Bilateral cryptorchidism, Hydroc... |
ORPHA:1600 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Hip dysplasia, Anemia |
OMIM:619377 |
Osteogenesis Imperfecta, Type Iii |
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Kyphosis, Thin ribs, Scoliosis, Biconcave vertebral bodies, Dentinogenesis imperfecta |
OMIM:259420 |
Congenital Myopathy 22B, Severe Fetal |
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Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract ... |
ORPHA:2552 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Aplastic clavicle, Micromelia, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Cryptorchidism, Distal arthrogryposis, Gliosis, Frontal upsweep of hair, Agenesis... |
ORPHA:506358 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot p... |
OMIM:612284 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Blind vagina, Stillbirth, B... |
OMIM:608978 |
Diets-Jongmans Syndrome |
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Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Gliosis, Umbilical... |
OMIM:618846 |
Dextrocardia |
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Abnormal reproductive system morphology, Abnormality of the spleen, Hydrocephalus, Abnormal rib m... |
ORPHA:1666 |
Jacobsen Syndrome |
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Death in infancy, Ventriculomegaly, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spin... |
ORPHA:2308 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Tremor, Elbow flexion contracture, Opist... |
ORPHA:79139 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Fanconi Anemia, Complementation Group F |
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Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... |
OMIM:603467 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Short stature, Talipes equinovarus, Camptodactyly, Caudal appendage |
ORPHA:314679 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryp... |
OMIM:618280 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Abnormal fingernail morphology, Craniosynostosis, Supernumerary nipple, Sparse eyebro... |
ORPHA:1521 |
Pallister-Hall Syndrome |
|
Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Hypospadias... |
ORPHA:672 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Monosomy 9P |
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Hypospadias, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Cryptorchidism, ... |
ORPHA:261112 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, H... |
ORPHA:261552 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Syndactyly, Narrow joint spaces of the elbow, Postnatal growth retardation, Severe intrauterine g... |
ORPHA:96182 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Kanzaki Disease |
|
Dry skin, Petechiae |
OMIM:609242 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Ventriculomegaly |
OMIM:613603 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Pectus carinatum, ... |
ORPHA:666 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Hy... |
ORPHA:168577 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... |
ORPHA:744 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed puberty, Shawl scrotum |
OMIM:616263 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic kidney disea... |
OMIM:249100 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
Noonan Syndrome With Multiple Lentigines |
|
Hypospadias, Short stature, Cryptorchidism, Decreased fertility, Growth delay, Excessive wrinkled... |
ORPHA:500 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
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Clinodactyly of the 5th finger, Syndactyly, Hypoplastic nipples, Broad palm |
OMIM:618505 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Opitz Gbbb Syndrome |
|
Hypospadias, Cryptorchidism, Widow's peak, Growth delay, Aspiration, Micropenis |
OMIM:300000 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... |
ORPHA:2753 |
Phaver Syndrome |
|
Camptodactyly of finger, Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the verte... |
ORPHA:2876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Holoprosencephaly |
|
Encephalocele, Highly arched eyebrow, Cryptorchidism, Synophrys, Abnormality of the spleen, Hydro... |
ORPHA:2162 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Patent ductus ... |
ORPHA:251066 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Cryptorchidism, ... |
OMIM:107480 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Anemic pallor, Short stature, Cryptorchidism, Deficient excision ... |
OMIM:600901 |
Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Lateral ventricle dilatation, Acanthocytosis |
ORPHA:2388 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Short stature, Long eyelashes, Mesomelia, Clinodactyly, Short phalanx of finger, Broa... |
OMIM:616894 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Antinuclear antibody positivity, Thrombocytopenia, Cer... |
ORPHA:50918 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Congenital diaphragmatic h... |
ORPHA:2470 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Postaxial hand polydactyly, Posta... |
OMIM:608091 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs, Scoliosis, Thickened skin |
OMIM:252600 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Pectus excavatum, Enlarged polycystic ovaries, ... |
ORPHA:201 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
Whipple Disease |
|
Splenomegaly, Hydrocephalus, Anemia |
ORPHA:3452 |
Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Postnatal growth... |
OMIM:200990 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Redundant neck skin, Short stature, Brachydactyly, Cubitus valgus, Short metata... |
OMIM:617157 |
Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... |
OMIM:224300 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of the vertebral spinous processes, Thoracic kyphosis, Gliosis |
ORPHA:909 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair, Meningocele, Hydrocephalus |
OMIM:130720 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Short 4th metacarpal, Short foot, Short 5th me... |
ORPHA:264200 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Precocious puberty in females, Testicular neoplasm, Abnormal rib mo... |
ORPHA:249 |
Congenital Disorder Of Deglycosylation 1 |
|
Gliosis, Scoliosis |
OMIM:615273 |
Neurooculorenal Syndrome |
|
Highly arched eyebrow, Short hallux, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the... |
OMIM:620305 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Fine hair, Delayed puberty, Sparse hair, Intrauterine growth retarda... |
OMIM:618891 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Thick eyebrow |
OMIM:300896 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Rib fusion, Scoliosis, Abnormal vertebral morphology, Ventriculo... |
ORPHA:261197 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Short stature, Camptodactyly of finger, Microm... |
ORPHA:3107 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Abno... |
ORPHA:3243 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Scoliosis, Astrocytosis |
OMIM:203700 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Bowing of the long bones, Asplenia, Cryptorchidism, Hydrocephalu... |
ORPHA:564 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c... |
OMIM:619895 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Premature graying of hair, Lacrimal gland hypopla... |
OMIM:613266 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Pectus carinatum, Short ribs, Narrow chest, Dandy-Walker... |
OMIM:225500 |
Chromosome 15Q25 Deletion Syndrome |
|
Short stature, Cryptorchidism, Synophrys, Growth delay, Webbed neck, Intrauterine growth retardation |
OMIM:614294 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Ventriculomegaly, Abnormality of the spleen, Thrombocytopenia, Splen... |
ORPHA:2072 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Crypt... |
OMIM:615849 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Hydrocephalus, Genu valgum, Decreased testicular size |
OMIM:619321 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis |
OMIM:168601 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Partial agenesis of the corpus callosum, Osteopathia striata, Hydrocephalus, Spin... |
OMIM:300373 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... |
ORPHA:63259 |
Desmosterolosis |
|
Rhizomelia, Partial agenesis of the corpus callosum, Hydrocephalus, Bilateral talipes equinovarus... |
OMIM:602398 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
Leukocyte Adhesion Deficiency Type Ii |
|
Broad eyebrow, Neutrophilia, Overlapping toe, Ataxia, Microcytic anemia, Leukocytosis, Low anteri... |
ORPHA:99843 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Short stature, Single transverse palmar crease, Broad hallux, Aplasia of the thymu... |
OMIM:620186 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Highly arched eyebrow, Supernumerary nipple, Hypoplastic toenails, Cryptorchidism,... |
OMIM:616728 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Abnormal cervical curvature, Thin ribs |
OMIM:312150 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Short stature, Phimosis, Crypto... |
OMIM:305000 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Rectal abscess, B... |
OMIM:600145 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Missing ribs, Pec... |
OMIM:268310 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Precocious puberty, Cryptorchidism, Labial hypertrophy, Postnatal ... |
ORPHA:96191 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Thick eyebrow, Hypospadias, Bilateral cryptorchidism, Synophrys, Penoscrotal hypos... |
OMIM:211380 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Camptodactyly of... |
ORPHA:1606 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal shoulder morphology, Clinodac... |
ORPHA:568 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Synophrys, Thin ribs, Low posterior hairline, Abnormal thymus morphology, Lumba... |
ORPHA:2463 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Hypospadias, Highly arched eyebrow, Congenital dia... |
ORPHA:280 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Bilateral cryptorchidism, Bilateral coxa valga, Decreased CSF 5-hydroxyindolacetic... |
OMIM:278800 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Anemic pallor, Short stature, Cryptorchidism, Deficient excision ... |
OMIM:227645 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Congenital kyphoscoliosis, Kyphoscoliosis, Pectus excavatum, Synophrys, Atlantoa... |
ORPHA:536545 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
Exercise-Induced Malignant Hyperthermia |
|
Dry skin, Thrombocytopenia |
ORPHA:466650 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Streak ovary, Hypospadias, Myeloid leukemi... |
ORPHA:798 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Sparse hair, Hepatic steatosis, Long toe, Short stature, 2-3 toe syndactyl... |
ORPHA:3455 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Crypto... |
OMIM:208150 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... |
ORPHA:2462 |
Kabuki Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Hydrocephalus, Small hand, Hip dislocation, Long eyelashes... |
ORPHA:2322 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Abnormal dental enamel morphology, Hypopigmen... |
ORPHA:818 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Growth delay, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Talipes equinovarus, Ventriculomegaly |
OMIM:617260 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Ventriculomegaly |
OMIM:616430 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hypospadias, Short stature, Urethrovaginal fistula, Septate vagina, Cryptorchi... |
OMIM:243800 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
Rabin-Pappas Syndrome |
|
Hydrocephalus, Highly arched eyebrow |
OMIM:620155 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis |
ORPHA:411602 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Cervix cancer, Lipoma |
OMIM:620189 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptod... |
OMIM:305620 |
Alzahrani-Kuwahara Syndrome |
|
Dry skin, Short stature |
OMIM:619268 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Camptodactyly of... |
OMIM:601803 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Abnormal cervical curvature, Thin ribs |
OMIM:253290 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture |
OMIM:616229 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Thick eyebrow, Hypospadias, Synophrys, Delayed puberty, Intrauterine growth retard... |
OMIM:619475 |
Baller-Gerold Syndrome |
|
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited... |
OMIM:218600 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Synophrys, Hip... |
OMIM:619297 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Cryptorchi... |
ORPHA:857 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Thickened skin, Patent ductus arteriosus, Spinal canal stenosis, Scoliosis,... |
OMIM:277600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Neonatal death, Brittle hair, Gliosis |
OMIM:124000 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Long eyelashes, Biconcave vertebral bodies, Umbilical hernia, Vertebral compression fr... |
OMIM:617952 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypospadias, Highly arched eyebrow, Partial agenesis of the corpus callosum, Low... |
OMIM:220111 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Agenesis of corpus callosum, Cryptorchidism, Short grea... |
OMIM:312870 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Hydrocephalus |
OMIM:231005 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Ventriculomegaly, Inguinal hernia, Abnormal dental enamel morphology, Cryptorc... |
ORPHA:534 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Thin ribs |
ORPHA:169189 |
Robinow Syndrome |
|
Small scrotum, Short stature, External genital hypoplasia, Cryptorchidism, High anterior hairline... |
ORPHA:97360 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the radius, Hip d... |
ORPHA:3412 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Short stature, Septate vagina, Cryptorchidism, Patent ductus arteriosus, Laterally c... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough |
OMIM:619607 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tapered finger, Hypoplastic toenails, Cryptorchidism, Hy... |
ORPHA:261337 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Enlarged ovaries, Overgrowth of exter... |
ORPHA:508 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Abnormal rib morphology, Platyspondyly, Narrow chest, Pachygyria, Ag... |
ORPHA:93317 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:253800 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Delirium, Abnormal EKG, Alopecia, Papilledema, Abnormality of the endocr... |
ORPHA:3385 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Precocious puberty, Synophrys, Hepatosplenomegaly, Umbilical hernia, Acanthosis ni... |
OMIM:301066 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent sternum, Coat hang... |
ORPHA:254528 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... |
OMIM:250420 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia, Genu valgum,... |
ORPHA:636 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Synophrys, Hydrocephalus, Anonychia, Narrow iliac wing... |
ORPHA:3042 |
Ramon Syndrome |
|
Enlarged labia minora, Kyphosis, Hyperkeratosis, Scoliosis, Hypertrichosis |
OMIM:266270 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Trichia... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Trichia... |
ORPHA:353277 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pancytopenia, Thickened ribs, Highly arched eyebrow, Short neck, Pec... |
ORPHA:309282 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat gland... |
ORPHA:73223 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal r... |
ORPHA:3380 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral co... |
OMIM:610915 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Kyphoscoliosis, Thin ribs, Platyspondyly, Follicular hyperkeratosis, Progressive... |
OMIM:225400 |
Gaucher Disease |
|
Death in infancy, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Anemia, Ichthyosis... |
ORPHA:355 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology, Alopecia, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia |
OMIM:306955 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyd... |
OMIM:610168 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... |
OMIM:236670 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Intrauterine growth... |
ORPHA:1708 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hydrocephalus, Loba... |
OMIM:610828 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest |
ORPHA:83 |
Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
Leopard Syndrome 1 |
|
Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Webbed neck, Hypoplasia of the ovar... |
OMIM:151100 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum |
OMIM:613161 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Primary amenorrhea, Hypopl... |
OMIM:603457 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus ar... |
OMIM:235730 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Short stature, Widow's peak, Hip dysplasia, Small nail, Clinodactyly of the 5th finge... |
OMIM:616975 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial instability, Atrophic sca... |
OMIM:614557 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Short stature, Repeated pneumothoraces, Spontaneous pneumothorax, Cryptorchidism... |
OMIM:130050 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Reduced bone mineral density, Sparse hair, Nail dysplasia, Clinodactyly of the 5... |
OMIM:616682 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Highly arched eyebrow, Hip subluxation, Cryptorchidism, Synophrys, Short thumb... |
OMIM:619325 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato... |
ORPHA:77293 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Later... |
OMIM:600920 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Thickened skin, Patent ductus arteriosus, Elbow flexion contracture, Spinal... |
OMIM:608328 |
Split Cord Malformation |
|
Tufted hairs, Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Penetrating foot u... |
ORPHA:573278 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Bell-shaped thorax, Coat hanger sign of... |
ORPHA:254519 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Hip contracture, Congenital hip dislocation, Cryptorchidism, Patellar aplasia,... |
OMIM:606170 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Patent ductus ... |
OMIM:117650 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Supernumerary nipple, Postnatal gro... |
OMIM:113620 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, Ectrodactyly, Agen... |
OMIM:615465 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Arachnodactyly, Sparse eyebrow, Large hands, Ventriculomegaly |
OMIM:617011 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Growth delay, Epididymal cyst, Va... |
ORPHA:2044 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:619718 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Short stature, Cryptorchidism, Synophrys, Low anterior hairline |
OMIM:616734 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly |
ORPHA:2166 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Warburg-Cinotti Syndrome |
|
Erythema, Elbow flexion contracture, Osteolytic defects of the phalanges of the hand, Follicular ... |
OMIM:618175 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Thin ribs |
OMIM:618265 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Thick hair, Highly arched eyebrow, Micrognathia, Cervical C2/C3 vertebra... |
ORPHA:444077 |
Occipital Horn Syndrome |
|
Broad clavicles, Pectus excavatum, Kyphosis, Hiatus hernia, Pectus carinatum, Platyspondyly, Coar... |
OMIM:304150 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Cryptorchidism, Death in childhood |
OMIM:300661 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Abnormality of the cervical spine, Eosinophilia, Low back pain |
ORPHA:449427 |
Knobloch Syndrome |
|
Abnormal hair morphology, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Renpenning Syndrome 1 |
|
Brittle hair, Clinodactyly of the 5th finger, Death in childhood, Sparse hair, Synostosis of the ... |
OMIM:309500 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Sparse scalp hair, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Short na... |
OMIM:271640 |
Primrose Syndrome |
|
Hip contracture, Sparse scalp hair, Calcification of the auricular cartilage, Short stature, Abse... |
OMIM:259050 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovit... |
ORPHA:89936 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Curly hair, Vertebral arch anomaly |
ORPHA:85184 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Missing ribs, Cryptorchidism, Absent vertebra, Rib fusion, Hemivertebrae, Microp... |
OMIM:134780 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosi... |
ORPHA:2461 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormal metacarpal morphology |
ORPHA:284160 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Cryptorchidism, Patent ductus arterios... |
ORPHA:2152 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Zttk Syndrome |
|
Curly hair, Broad eyebrow, Sparse eyebrow, Kyphosis, Patent ductus arteriosus, Dysplastic corpus ... |
OMIM:617140 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:58 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Clinodactyly of the 5th finger... |
ORPHA:1587 |
Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal fingernail morphology, Abnormal toe ... |
ORPHA:79500 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
Menke-Hennekam Syndrome 1 |
|
Overlapping toe, Broad hallux, Sandal gap, Cutaneous syndactyly of toes, Hip dysplasia, Long eyel... |
OMIM:618332 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly, De... |
OMIM:609192 |
Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis |
OMIM:601104 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Premature graying of hair, Whit... |
ORPHA:3440 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Pectus excavatum, Thrombocytopenia, Enlarged tonsils, Leukopenia, Elliptocytosis, B... |
ORPHA:2785 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Hepa... |
ORPHA:263508 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Cryptococcosis |
|
Hydrocephalus, Lymphoid leukemia |
ORPHA:1546 |
Vater/Vacterl Association |
|
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, P... |
OMIM:192350 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Short neck, Crypto... |
ORPHA:3404 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Genu varum |
ORPHA:1969 |
Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Fabry Disease |
|
Hyperkeratosis, Anemia |
ORPHA:324 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Xylt1-Cdg |
|
Broad ribs, Synophrys, Short clavicles, Hirsutism |
ORPHA:370930 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs, Scoliosis |
OMIM:269300 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Splenomegaly, Flexion contracture, Enla... |
ORPHA:217085 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum |
OMIM:162200 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Reactive Arthritis |
|
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Splenomegaly, Flexion contracture, Enla... |
ORPHA:217093 |
Supranuclear Palsy, Progressive, 2 |
|
Gliosis |
OMIM:609454 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Broad eyebrow, Arachnodactyly, Sparse eyebrow, Ventriculomegaly |
ORPHA:457359 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Holoprosencephaly 9 |
|
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Postaxial hand polydactyl... |
OMIM:610829 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Cryptorchidism, Small scrotum, Hypogonadism, External genital hypoplasia |
OMIM:614231 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Cryptorchidism, Hydrocephalus, Pilomatrixoma, Small hand, Oligozoospermia, ... |
ORPHA:3310 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic hypoplasia |
OMIM:211350 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Platyspondyly, ... |
OMIM:250220 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Short stature, Tachypnea, Respiratory insufficiency, Growth delay, Respiratory fai... |
OMIM:613658 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Thick eyebrow, Hypospadias, Curly eyelashes, Short neck, Pectus excavatum, C... |
ORPHA:199 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Hydrocephalus, Erythema, Abnormal testis morphology, Agenesis of cor... |
ORPHA:2556 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Pudendal Neuralgia |
|
Dyspareunia, Scrotal pain, Impotence |
ORPHA:60039 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Micropenis, Spina bifida occulta, Thick eyebrow |
ORPHA:488434 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Redundant skin, Short stature, Abnormality of hair texture, Abnormal eyela... |
ORPHA:286 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Cystinosis, Nephropathic |
|
Male infertility, Hypopigmentation of hair, Short stature, Growth delay, Delayed puberty, Male hy... |
OMIM:219800 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Prostatitis, Eosinophilia, Lymphadenopathy |
ORPHA:449563 |
Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Impaired T cell function, Delayed puberty |
OMIM:176690 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Abnormal tibia morphology, Genu valgum, Large hands, Granuloma |
ORPHA:363700 |
Pyknoachondrogenesis |
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Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... |
ORPHA:3003 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Finger syndactyly, Hepatomegaly, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th... |
OMIM:620025 |
Sarcoidosis |
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Hemolytic anemia, Alopecia, Eosinophilia, Scarring, Abnormal reproductive system morphology, Thro... |
ORPHA:797 |
Craniopharyngioma |
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Hydrocephalus |
ORPHA:54595 |
Scalp-Ear-Nipple Syndrome |
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Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Pallor, Ventriculomegaly |
OMIM:253280 |
Cystic Fibrosis |
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Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... |
OMIM:219700 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus |
ORPHA:137667 |
Lymphangioleiomyomatosis |
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Hydrocephalus, Ungual fibroma |
ORPHA:538 |
Cardiospondylocarpofacial Syndrome |
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Congenital diaphragmatic hernia, Rib fusion, Fused cervical vertebrae, Herniation of intervertebr... |
OMIM:157800 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Hip dislocation |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Hip dislocation |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Hip dislocation |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Hip dislocation |
ORPHA:93924 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus |
ORPHA:637 |
Osteogenesis Imperfecta, Type Vii |
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Multiple rib fractures, Pectus excavatum, Narrow chest, Scoliosis, Vertebral compression fracture... |
OMIM:610682 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis |
ORPHA:79280 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Prostatitis, Eosinophilia, Lymphadenopathy |
ORPHA:449395 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Small scrotum, Hypospadias, Short stature, Cryptorchidism, Hypogonadism, Micropenis, Decreased te... |
OMIM:309580 |
Meningioma |
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Hydrocephalus |
ORPHA:2495 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Splenomegaly, Hip dysplasia |
ORPHA:580 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Williams Syndrome |
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Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Cardio... |
ORPHA:904 |
Tuberous Sclerosis Complex |
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Ungual fibroma, Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Craniotubular Dysplasia, Ikegawa Type |
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Increased intervertebral space, Broad ribs, Platyspondyly |
OMIM:619727 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Hydrocephalus |
OMIM:175780 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Growth delay, Short clavicle... |
OMIM:309800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Long fingers, Toe clinodactyly, Sandal gap, Cutaneous syndactyly |
OMIM:620330 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Partial duplication of thumb phalanx, Hydrocephalus, Genu valgum, Agenes... |
OMIM:164210 |
Reynolds Syndrome |
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Hepatomegaly, Jaundice, Cirrhosis, Skin ulcer |
ORPHA:779 |