Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Cutaneous T-cell lymphoma, Abnormal eyelid morphology,... |
ORPHA:2584 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... |
OMIM:615559 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis... |
OMIM:240500 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Glossoptosis, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media, Men... |
ORPHA:47 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Conjunctivitis, Otitis media, Conjunctiva... |
ORPHA:3392 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Indurated nodule, Skin nodule, ... |
ORPHA:542592 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi... |
OMIM:300853 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Oral ulcer, Recurrent candida infections, T lymphocytopenia, Increase... |
ORPHA:169154 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Skin ulc... |
ORPHA:90280 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Subcutaneous nodule, Skin ulcer, Multi... |
ORPHA:296 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, ... |
ORPHA:39041 |
Cowden Syndrome 1 |
|
Skin tags, Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Transit... |
OMIM:158350 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anor... |
ORPHA:507 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Pruritus, Splen... |
ORPHA:3162 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Ovarian neopla... |
ORPHA:2221 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Recurrent viral infections, Oral ulcer, Gingivitis, Periodontitis, Neutropenia, ... |
ORPHA:486 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... |
OMIM:619437 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recur... |
OMIM:170100 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Skin ulcer, Decr... |
ORPHA:33355 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Abnor... |
ORPHA:228119 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Neo... |
ORPHA:1775 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Increased T cell count, Increased circulating IgG level, Inflammation of the large... |
ORPHA:98813 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... |
OMIM:618982 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneu... |
OMIM:615688 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Paronychia, Gingivitis, Skin vesicle, Chronic otitis media, Dystrophic fingernails, Papule, Skin ... |
ORPHA:2314 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Low anterior hairline, Dental malocclusion, Breast carcinoma, Ovarian ne... |
OMIM:617883 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Scaling skin, A... |
OMIM:606367 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Recurrent... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophi... |
ORPHA:169160 |
Selective Igm Deficiency |
|
Fasciitis, Non-Hodgkin lymphoma, Recurrent herpes, Recurrent staphylococcal infections, Lymphaden... |
ORPHA:331235 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Oral ulcer, Ch... |
OMIM:608971 |
Birt-Hogg-Dubé Syndrome |
|
Skin tags, Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathy... |
ORPHA:122 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, ... |
ORPHA:79456 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Congestive heart failure, Subcutaneous nodule, Ovarian neoplasm, Excessive... |
ORPHA:137608 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Recurrent respiratory infection... |
ORPHA:742 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Cataract, Corneal opacity, Recurr... |
ORPHA:61 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Pruritus... |
ORPHA:36412 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Lymphadenopat... |
OMIM:619126 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ... |
ORPHA:50944 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho... |
OMIM:601457 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Poikiloderma With Neutropenia |
|
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Sparse eyebrow, Recurrent bronchopulmonary... |
OMIM:604173 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Absence of lymph node germinal center... |
OMIM:608184 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Refractory anemia with ringed sideroblasts, Pallor, Neutropenia, Erythroid hyp... |
ORPHA:75564 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Shock, Skin rash, Pyoderma gangrenosum, Sepsis, Intracranial hemorrh... |
ORPHA:49566 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Elevated proport... |
OMIM:603909 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Inflammation of the large intestine, Neop... |
ORPHA:3243 |
Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurren... |
OMIM:604571 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent viral infections, Squamous cell carcinoma, Increased circulating IgG level, Disseminate... |
OMIM:243700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent... |
OMIM:616005 |
Werner Syndrome |
|
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... |
ORPHA:902 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... |
OMIM:308240 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H... |
OMIM:604416 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Pelvic m... |
ORPHA:370348 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom... |
ORPHA:157798 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... |
OMIM:612840 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Hyperme... |
ORPHA:379 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Sepsis, Neutropenia, Disseminated molluscum contagiosum, Bronchiectas... |
OMIM:614868 |
Cutaneous Neuroendocrine Carcinoma |
|
Erythematous macule, Lymphoid leukemia, Brain neoplasm, Chronic noninfectious lymphadenopathy, Ne... |
ORPHA:79140 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Subcutaneous nodule, Gingival f... |
ORPHA:2028 |
Hereditary Progressive Mucinous Histiocytosis |
|
Erythematous macule, Pruritus, Lymphadenopathy, Mucinous histiocytosis, Erythematous papule |
ORPHA:158025 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal sacrum morpholo... |
ORPHA:2591 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scar... |
ORPHA:48104 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infect... |
OMIM:603554 |
Schnitzler Syndrome |
|
Macule, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, Lymp... |
ORPHA:37748 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Ataxia, Abnormal testis morphol... |
ORPHA:100 |
Incontinentia Pigmenti |
|
Uveitis, Orofacial cleft, Abnormal toenail morphology, Spina bifida occulta, Infectious encephali... |
ORPHA:464 |
Felty Syndrome |
|
Sinusitis, Subcutaneous nodule, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte mo... |
ORPHA:47612 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... |
OMIM:127550 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Inguinal hernia, Hypertelorism, Kyphosis, Repetitive compulsive behavior, Periauri... |
ORPHA:352490 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Vesicoureteral reflux, Hepa... |
OMIM:615895 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Polycystic ova... |
ORPHA:3085 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... |
ORPHA:3261 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplas... |
ORPHA:231226 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Corneal dystrophy, Cardiomegaly, Absent frontal sinuses, Congestiv... |
OMIM:253250 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly, Skin ulcer, Athetosis, Gait... |
ORPHA:834 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Sepsis, Recurrent cutaneous... |
ORPHA:477 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... |
OMIM:614470 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Cataract, Epidermal nevus, Exostoses, Splenomega... |
ORPHA:2969 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Squamous cell carcinoma, Basal cell carcinoma, Papule |
ORPHA:409 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... |
OMIM:193670 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... |
OMIM:618709 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Atypical Teratoid Rhabdoid Tumor |
|
Malignant neoplasm of the central nervous system, Irritability, Hydrocephalus, Ataxia |
ORPHA:99966 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Ventriculomegaly, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia... |
OMIM:304790 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Melanin p... |
OMIM:607624 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Low anterior hairline, Short philtrum, Low frustration tolerance, Widely spaced teeth,... |
OMIM:619293 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Severe varicella zoster infection, Oral ulcer, Uveitis, Sepsis, Hepatomegaly, EB... |
OMIM:615122 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Myelodysplasia, Conical tooth, Thrombocytopenia, Recurrent p... |
OMIM:617475 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... |
OMIM:619164 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth... |
ORPHA:231 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hypertelorism, Hydrocephalus, Flexion contracture, Recurrent infections, Scoliosis,... |
OMIM:300884 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Persis... |
OMIM:620282 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Thoracic scoliosis, Selective tooth agenesis, Microcytic anemia, Micrognathia, Recurrent viral in... |
ORPHA:2959 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Squamous cel... |
ORPHA:33364 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Skin nodule, Vasculitis, Conjunctivitis, Cerebral ... |
ORPHA:26137 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Abnormal palate morphol... |
ORPHA:575 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... |
OMIM:618048 |
Chromomycosis |
|
Erythematous macule, Keratitis, Pruritus, Subcutaneous nodule, Verrucous papule, Hypopigmented sk... |
ORPHA:182 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactiv... |
ORPHA:250994 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Hepatitis, Skin u... |
ORPHA:525 |
Zimmermann-Laband Syndrome |
|
Short neck, Micrognathia, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal ext... |
ORPHA:3473 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Sepsis, Leukopenia, Conjunctivitis, Thoracic kyphosis, Decreased circulating IgG leve... |
ORPHA:505248 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Ab... |
ORPHA:210110 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Enant... |
ORPHA:139402 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Pallor, Decreased proportion of... |
ORPHA:331206 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Hypertelorism, Short neck, Recurrent upper respiratory tract inf... |
ORPHA:284180 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Jaundice, Neutr... |
ORPHA:540 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... |
OMIM:613179 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Severe varicella zoster infection, Hodgkin lymphoma, Hepatosplenome... |
OMIM:618261 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis... |
ORPHA:2968 |
Rhabdoid Tumor |
|
Renal neoplasm, Subcutaneous nodule, Lymphadenopathy, Anemia, Neoplasm of the liver, Neoplasm of ... |
ORPHA:69077 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Skin ulcer, Lymphadenopath... |
ORPHA:69126 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... |
OMIM:613490 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Recurrent infections, Progressive loss of facial adipose tissue, Loss of trun... |
OMIM:608709 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A... |
ORPHA:79493 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Re... |
OMIM:617591 |
Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Anorexia, Myocardial infarction, Subcutaneo... |
ORPHA:3287 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Ventriculomegaly, Proptosis, Attention deficit hyperactivity disorder |
OMIM:608716 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Disseminated cutaneous warts, Burkitt lymphoma, Facial erythema, Emphysema, Increased proportion ... |
OMIM:618307 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthritis, Abnormal la... |
ORPHA:1855 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hep... |
OMIM:102700 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, CSF pleocytosis, Increased CSF interfer... |
OMIM:615010 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Generalized Eruptive Histiocytosis |
|
Erythematous macule, Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leuke... |
ORPHA:157991 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Polycystic ovaries,... |
ORPHA:1643 |
Atelis Syndrome 1 |
|
Cataract, Eczema, Carious teeth, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Recurrent inf... |
OMIM:620184 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplasia of the maxi... |
ORPHA:231214 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal dental ... |
ORPHA:1334 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Naevus flammeus of the eyelid, Capillary hemangioma |
ORPHA:2703 |
Proteus Syndrome |
|
Epidermal nevus, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Spin... |
OMIM:176920 |
Kleeblattschaedel |
|
Hydrocephalus, Proptosis, Recurrent corneal erosions |
OMIM:148800 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Macule, Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomega... |
ORPHA:32960 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Cardiofaciocutaneous Syndrome 1 |
|
Numerous nevi, Short neck, Micrognathia, Deep philtrum, High palate, Sparse hair, Absent eyebrow,... |
OMIM:115150 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous st... |
OMIM:191900 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Recurrent... |
OMIM:612783 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Oral mucosal blisters, Narrow mouth, Corneal scarring, Squamous cell carcinom... |
OMIM:226600 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Petechiae, Hypospadias, Myelodysplasia, Hypergonadotropic hyp... |
OMIM:617053 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Thin skin, Scol... |
ORPHA:2500 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopat... |
ORPHA:1333 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Abnormal pupil morphol... |
ORPHA:534 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Increased circulating IgA level, ... |
OMIM:617388 |
Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, Downturned co... |
ORPHA:955 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Sinusitis, Oral ulcer, Gingivitis, Sepsis, Periodontitis, Otit... |
ORPHA:2686 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ... |
OMIM:613496 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der... |
OMIM:603165 |
Immunodeficiency 102 |
|
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomeg... |
OMIM:301082 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben... |
ORPHA:440437 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Abnormal cerebrospinal fluid morphology, Pruritus, Thrombocyt... |
ORPHA:448237 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Cataract, Recurrent respiratory infections |
ORPHA:85288 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, P... |
ORPHA:3260 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus, Neoplasm |
ORPHA:2807 |
Lymphangioleiomyomatosis |
|
Cough, Emphysema, Ungual fibroma, Macule, Renal neoplasm, Atelectasis, Lymphadenopathy, Restricti... |
ORPHA:538 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis |
OMIM:120100 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, A... |
OMIM:612387 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... |
ORPHA:822 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... |
ORPHA:98850 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He... |
ORPHA:824 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... |
OMIM:619824 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Meningitis, Increased circula... |
OMIM:212050 |
Aicardi-Goutieres Syndrome 3 |
|
CSF lymphocytic pleiocytosis, Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Polycystic ovaries, Xanthomatosis, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Ky... |
ORPHA:2962 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Squamous cell carcinoma, Microcornea, Sparse hair, Tiger tail banding, Decreased ci... |
OMIM:601675 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Inability to walk, Proptosis, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618492 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Pulmonary fibrosis, Dysphagia, Pu... |
ORPHA:220402 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Shigellosis |
|
Anorexia, Sepsis, Uveitis, Hypovolemic shock, Conjunctivitis, Acute colitis, Abscess, Hemolytic-u... |
ORPHA:810 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... |
OMIM:305000 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g... |
ORPHA:277 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Persis... |
OMIM:619510 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Increased circulat... |
ORPHA:99827 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... |
OMIM:307200 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Listeriosis |
|
Back pain, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Con... |
ORPHA:533 |
Gray Platelet Syndrome |
|
Epistaxis, Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Gingivitis, Squamous cell carcinoma, Dystrophic fingernails, Transiti... |
ORPHA:2907 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Depression, Ovarian cyst, Agitation, Thin skin, Emotional lability, Pancreatitis, Stria... |
OMIM:610475 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Recurrent skin infections, Corneal opacity, ... |
ORPHA:79396 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co... |
OMIM:602562 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia |
ORPHA:171719 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Cerebrospinal fluid rhin... |
ORPHA:183675 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Microcytic anemia, Short neck, Deep philtrum, Recurrent pneumonia, Hepatos... |
OMIM:619750 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Gingival fibromatosis, Respiratory failure, Proptosis |
ORPHA:1832 |
Flynn-Aird Syndrome |
|
Cataract, Ataxia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis |
ORPHA:2047 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of t... |
ORPHA:424019 |
Cowden Syndrome 6 |
|
Skin tags, Cataract, Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma,... |
OMIM:615109 |
Legius Syndrome |
|
Neoplasm of the central nervous system, Multiple lipomas, Male urethral meatus stenosis, Hyperact... |
ORPHA:137605 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Abnormality of the nail, Chilblains, Skin ulcer |
OMIM:610448 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Giant Cell Arteritis |
|
Pericarditis, Alopecia, Renal insufficiency, Abnormality of thrombocytes, Anorexia, Sudden cardia... |
ORPHA:397 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Abnormal ... |
ORPHA:744 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neut... |
OMIM:602079 |
Blau Syndrome |
|
Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Abnormal saliv... |
ORPHA:90340 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro... |
OMIM:301080 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Skin plaque, Papilloma, Hemangioma, Hyperkeratotic papule |
ORPHA:464318 |
Immunodeficiency 58 |
|
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... |
OMIM:618131 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Myocardial infarction, Splenomegal... |
ORPHA:108 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Persistent human papillomavirus infection, Cryptococcal meningitis, T lymphocytopenia, Squamous c... |
OMIM:618309 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
Takenouchi-Kosaki Syndrome |
|
Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Hypospadias, Highly ... |
OMIM:616737 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... |
ORPHA:809 |
Basal Cell Nevus Syndrome 1 |
|
Skin tags, Mandibular prognathia, Rhabdomyoma, Palmar pits, Plantar pits, Hemivertebrae, Cardiac ... |
OMIM:109400 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Hydrocephalus, Ging... |
ORPHA:1008 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... |
ORPHA:1572 |
Hypophosphatasia |
|
Respiratory insufficiency, Irritability, Skin dimple, Skin dimple over apex of long bone angulati... |
ORPHA:436 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... |
OMIM:619644 |
Noonan Syndrome 12 |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Atopic dermatitis, Spina... |
OMIM:618624 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Cutis laxa |
OMIM:614100 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of the dentition, Bilateral ptosis, Recurrent infections,... |
OMIM:620040 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Myocardial infarction, Abnormal eyelid morphology, Neoplasm, Abno... |
ORPHA:221 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Recurr... |
OMIM:147060 |
Kaposi Sarcoma |
|
Macule, Recurrent herpes, Generalized lymphadenopathy, Skin rash, Hypermelanotic macule, Lymphopr... |
ORPHA:33276 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Monosomy 22 |
|
Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Short neck, Open mouth, Synophrys, Schw... |
ORPHA:96123 |
Kawasaki Disease |
|
Abnormality of nail color, Sterile pyuria, Conjunctivitis, Cholecystitis, Meningitis, Recurrent p... |
ORPHA:2331 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... |
ORPHA:144 |
Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Kyphosis, Congestive heart failure,... |
ORPHA:796 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Papule, Histiocytosis |
ORPHA:157997 |
Microscopic Polyangiitis |
|
Sinusitis, Subcutaneous nodule, Uveitis, Glomerulopathy, Vasculitis, Oliguria, Skin ulcer, Episcl... |
ORPHA:727 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Cowden Syndrome 5 |
|
Skin tags, Cataract, Subcutaneous lipoma, Kyphosis, Breast carcinoma, Hamartomatous polyposis, Ov... |
OMIM:615108 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Neoplasm, Erythroderma, Abnormal oral cavity... |
ORPHA:2897 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin, ... |
ORPHA:1114 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or... |
ORPHA:556 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... |
ORPHA:1830 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Anorexia, Pruritus, Splenomegaly, Lymphoma, Breast carcinoma, Lymp... |
ORPHA:86893 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Re... |
OMIM:614172 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Oral ulcer, Gingivitis, Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG... |
OMIM:308230 |
Toxic Epidermal Necrolysis |
|
Macule, Recurrent respiratory infections, Renal insufficiency, Entropion, Gastrointestinal hemorr... |
ORPHA:537 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Epicanthus, Fair hair, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lympho... |
OMIM:269920 |
Boutonneuse Fever |
|
Macule, Renal insufficiency, Skin rash, Maculopapular exanthema, Thrombocytopenia, Skin nodule, C... |
ORPHA:83313 |
Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Recurrent skin infections, Ecz... |
OMIM:256500 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:613101 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro... |
OMIM:141300 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contracture |
OMIM:611225 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... |
OMIM:610163 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Gait disturbance, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Kyphosis, Dental maloc... |
ORPHA:2471 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Dental malocclusion, Spotty hypopigmentation, Ato... |
OMIM:619719 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Telangiectasia, Interstitial pneumoni... |
ORPHA:454831 |
Donohue Syndrome |
|
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Cholestasis, Recurren... |
OMIM:246200 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ... |
ORPHA:2796 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Respiratory insuffi... |
OMIM:617404 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Micrognathia, High palate, Alopecia, Bronchiectasis, Spinal canal stenosis, Methicillin-resistant... |
OMIM:618282 |
Hermansky-Pudlak Syndrome 2 |
|
Albinism, Periodontitis, Recurrent abscess formation, Neutropenia, Hepatomegaly, Decreased CD4:CD... |
OMIM:608233 |
Short Syndrome |
|
Rieger anomaly, Cataract, Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of subcutaneous fa... |
OMIM:269880 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Squamous cell carcinoma, Leukopenia, E... |
ORPHA:79277 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card... |
OMIM:607685 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituitary mi... |
ORPHA:649929 |
Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Ectopic... |
ORPHA:634 |
Tetralogy Of Fallot |
|
Preauricular pit, Cryptorchidism, Proptosis |
ORPHA:3303 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Genital ulcers, Oral ulcer, BCGitis, Sepsis, Otitis media, Hepatomeg... |
OMIM:602450 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... |
OMIM:142680 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Hemophagocytosis, Erythematous... |
ORPHA:86884 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Abnormal respiratory system physiology, Deeply set eye, Gait disturbance, Inappropriate... |
ORPHA:505652 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Cari... |
OMIM:612843 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Inguinal hernia, Hypertelorism, Kyphosis, Proptosis, Scoliosis, Umbilical hernia, ... |
OMIM:615834 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Abnormality of the dentition, Pruritus, La... |
ORPHA:313 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Proteinuria, Orthostatic hypotension due to autonomic dysfunction, Prur... |
ORPHA:85448 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Synophrys, Low anterior hairline, Sepsis, Leukopenia, Coarse hair, Macrovesicular hep... |
OMIM:617303 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Abnormal oral cavity morphology, Chronic otitis media, M... |
ORPHA:900 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Kikuchi-Fujimoto Disease |
|
Erythematous macule, Generalized lymphadenopathy, Anorexia, Oral ulcer, Leukopenia, Lymphocytosis... |
ORPHA:50918 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Proptosis, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:2370 |
Noonan Syndrome 4 |
|
Curly hair, Epicanthus, Ureteral duplication, Short neck, Sparse eyebrow, Bilateral ptosis, Crypt... |
OMIM:610733 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Kyphosis, Cryptorchidi... |
OMIM:615381 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Recurrent bacterial infections, R... |
OMIM:608106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Hypertelorism, Kyphosis, Scoliosis, Bruxism |
OMIM:300434 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Gingivitis, Squamous cell carcinoma, Inflammation of the large intestine, Col... |
ORPHA:2908 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Thoracic scoliosis, Cataract, Microcornea, Proptosis, Lumbar scoliosis |
OMIM:616171 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Sepsis,... |
ORPHA:247353 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... |
OMIM:615993 |
Tetralogy Of Fallot |
|
Preauricular pit, Proptosis |
OMIM:187500 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primary teeth, Cr... |
ORPHA:90322 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia |
OMIM:610738 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... |
OMIM:618116 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropio... |
ORPHA:33001 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... |
OMIM:620210 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-ind... |
ORPHA:3077 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Oral ulcer, Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia,... |
OMIM:612541 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Thrombocytopenia, Cryptorchidism, Squamous cell carcinoma of... |
OMIM:620365 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Chronic infection, Thrombocytopen... |
ORPHA:520 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Plague |
|
Chapped lip, Anorexia, Lymphadenitis, Sepsis, Acute infectious pneumonia, Inflammation of the lar... |
ORPHA:707 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Epicanthus, Cataract, Telecanthus, Pancytopenia, Hypoplasia of penis, Micrognathia... |
ORPHA:85321 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... |
ORPHA:464343 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Subcutaneous nodule, Reticulocytopenia, Leukopenia, Neutropenia, Tricuspid regurgitation, Myelody... |
ORPHA:508542 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... |
ORPHA:79124 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin,... |
OMIM:270300 |
Rudiger Syndrome |
|
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod... |
ORPHA:2348 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Anorexia, Abnormal eyelid morpholo... |
ORPHA:37 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Flat cornea, Hypertelorism, Pneumothorax, Deeply set eye, Scoliosis, Emphysema, ... |
OMIM:614816 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Familial Keratoacanthoma |
|
Subcutaneous nodule, Skin ulcer, Neoplasm, Adenoma sebaceum, Papilloma, Papule |
ORPHA:493 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
Coccidioidomycosis |
|
Urticarial plaque, Abnormality of the spleen, Verrucous papule, Increased circulating IgG level, ... |
ORPHA:228123 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Hypertelorism |
ORPHA:1538 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Broad-based gait, Recurrent urinary tract infections, Self-injurious behavior, Deeply set eye, Pr... |
OMIM:618707 |
Carney Complex |
|
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Thyroid carcinoma, Papillary th... |
ORPHA:1359 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Gastrointestinal inflammation, Squam... |
ORPHA:79405 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conj... |
OMIM:123500 |
Gorlin Syndrome |
|
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Hypertelorism, Palmar pits, Cryptorchi... |
ORPHA:377 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... |
OMIM:617052 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... |
ORPHA:398124 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia |
OMIM:614082 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... |
OMIM:618963 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Recurrent cutan... |
ORPHA:96253 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Skin vesicle, Abnormal toenail morphology... |
ORPHA:79410 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... |
OMIM:602540 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Increased circulating IgM level, Recurrent bacterial infec... |
OMIM:606843 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... |
ORPHA:2552 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Pruritus, Splenomegaly,... |
ORPHA:98848 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Neutrophil nuclea... |
OMIM:245480 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Epicanthus, Pancytopenia, Ventriculomegaly, Unilateral renal agenesis, Splenomegaly... |
OMIM:614576 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Chronic infection, Supernumerary tooth, Dental malocclusi... |
ORPHA:83451 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... |
OMIM:607616 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Female hypogonadism, ... |
OMIM:240300 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Alopecia, Autoimmune throm... |
ORPHA:227990 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Elbow flexion contracture, A... |
OMIM:619470 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, A... |
ORPHA:100025 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsut... |
OMIM:613684 |
Roifman Syndrome |
|
Thin upper lip vermilion, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Hypogonadotrop... |
ORPHA:353298 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Cataract, Hypoplasia of the odontoid process, Platyspondyly, Pr... |
ORPHA:85172 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... |
ORPHA:98849 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Meningitis, Skin ulcer |
ORPHA:1117 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Hematological neoplasm, Pustule, Prurit... |
ORPHA:79481 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... |
OMIM:613860 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... |
OMIM:106260 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced... |
ORPHA:487796 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Micrognathia, Abnormality of the spleen, Hydrocephalus, Renal hypoplasia/aplasia, Abn... |
ORPHA:1834 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Spina bifid... |
ORPHA:1327 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneum... |
OMIM:301078 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Kyphosis, Cryptorchidism, Self-injurious behavior, Deeply set eye, Skin-pick... |
OMIM:618512 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Hemolytic anemia, Hepatomegaly, Alopecia, Erythrodontia, Splenomegaly, Jaundice, ... |
OMIM:263700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... |
ORPHA:3319 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomeg... |
OMIM:209950 |
Cri-Du-Chat Syndrome |
|
Short neck, Orofacial cleft, Premature graying of hair, Downturned corners of mouth, High palate,... |
OMIM:123450 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Dental malocclusion, Abnormal repe... |
OMIM:615541 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, K... |
ORPHA:779 |
Avian Influenza |
|
Pneumonia, Thrombocytopenia, Meningitis, Congestive heart failure, Hepatitis, Sepsis, Leukopenia,... |
ORPHA:454836 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Single lineage myelodysplasia, Anemia of inadequate produc... |
ORPHA:86839 |
Schimke Immunoosseous Dysplasia |
|
Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,... |
OMIM:242900 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Lymphadenopa... |
OMIM:605258 |
Roifman Syndrome |
|
Hepatomegaly, Biconvex vertebral bodies, Thin upper lip vermilion, Noncompaction cardiomyopathy, ... |
OMIM:616651 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Irritability, Pallor, Neut... |
OMIM:246400 |
Recon Progeroid Syndrome |
|
Smooth philtrum, Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Hirsutism, Hype... |
OMIM:620370 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Alopecia, Autoimmune hypop... |
ORPHA:227982 |
Distal 7Q11.23 Microduplication Syndrome |
|
Benign neoplasm of the central nervous system, Congenital diaphragmatic hernia, Cryptorchidism, H... |
ORPHA:261102 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Recurrent herpes, Functional abnormality of the bladder, T... |
ORPHA:391487 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Redundant skin, Kyphosis, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypopl... |
ORPHA:93274 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... |
OMIM:618495 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypertelorism, Cryptorchidism, Hydrocephalus, Proptosis, Scoliosis, Hypoplastic female external g... |
OMIM:618577 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Single lineage myelo... |
ORPHA:98826 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Hyd... |
ORPHA:87 |
Cowden Syndrome |
|
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, A... |
ORPHA:201 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141179 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, Gait imbalance, Cough |
ORPHA:36386 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hepatitis, Abnormal facial skeleton morphology, Renal phosphate wasting, Ovar... |
ORPHA:562 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uterus... |
OMIM:619151 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic... |
ORPHA:763 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Abnormal cerebrospinal fluid morphology, Subcutaneous nodule, Corneal perforation, Con... |
ORPHA:68 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Corneal opacity, Ataxia, Hypertelorism |
ORPHA:1532 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Decreased circulating antibody level, Recurrent infections, Platysp... |
OMIM:617425 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Hypopigmented skin patches, Er... |
ORPHA:330064 |
Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Lymphadenopathy, A... |
ORPHA:858 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... |
OMIM:616050 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Subcutaneous nodule, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iri... |
ORPHA:636 |
Clouston Syndrome |
|
Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Recurrent ea... |
ORPHA:221139 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Ventriculomegaly |
ORPHA:1980 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepa... |
ORPHA:2072 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Tricuspid stenosis, Heart murmur, ... |
ORPHA:100079 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Kyphosis, Abnormality of the ovary, Hypogonadism, Gait disturbance, Decreased testicula... |
ORPHA:1875 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, CSF lymphocytic pleiocytosis, Irritability, Scaling skin, Dry skin, Thrombocytopenia |
OMIM:612952 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Keratitis, Osteoarthritis, Skin ulc... |
ORPHA:1657 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Premature graying of hair, Increased circulating IgG level, Conj... |
OMIM:256040 |
Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Hepatic ste... |
ORPHA:79474 |
Distal Deletion 10P |
|
Hypoplasia of penis, Hypertelorism, Short neck, Cryptorchidism, Polycystic ovaries |
ORPHA:1580 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Anorexia, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, B... |
ORPHA:391 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair... |
OMIM:619692 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Hypermelanotic m... |
ORPHA:90321 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Subcutaneous n... |
ORPHA:31204 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141184 |
Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocyto... |
ORPHA:464329 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Dental enamel pits, Astrocytoma, Subcutaneous nodule, Renal cyst,... |
OMIM:191100 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the kidney, Abnormality o... |
ORPHA:3474 |
Stevens-Johnson Syndrome |
|
Macule, Recurrent respiratory infections, Renal insufficiency, Entropion, Gastrointestinal hemorr... |
ORPHA:36426 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis |
OMIM:610539 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Neoplasm, Otitis media, Compulsive b... |
ORPHA:353281 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Iris colob... |
OMIM:234100 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Irritability, Organic aciduria, Thrombocytopeni... |
ORPHA:79242 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Severe periodontitis, Gingivitis, Squamous cell carcinoma, Periodontitis, Generali... |
ORPHA:678 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Cherubism |
|
Proptosis, Upper airway obstruction |
ORPHA:184 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Subcutaneous nodule, Mediastinal lymphadenopathy, S... |
ORPHA:158029 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Abnormal abdomen morphology, Irritability, Proptosis, Polyphagia, Goiter |
OMIM:275000 |
Hypophosphatasia, Childhood |
|
Waddling gait, Proptosis, Skin dimple over apex of long bone angulation |
OMIM:241510 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Deep philtrum, Sparse hair, Microdontia, Thin nail, Hyperlordosis, ... |
OMIM:190350 |
Preeclampsia |
|
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Po... |
ORPHA:275555 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Anemia, Excessive wrinkled sk... |
ORPHA:3322 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia... |
OMIM:308800 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Lymphoma,... |
ORPHA:545 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... |
OMIM:253260 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa... |
ORPHA:79083 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, Low anterior hairline, Neoplasm, ... |
ORPHA:235 |
Behçet Disease |
|
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Subcutaneous nodule, Oral ulcer, I... |
ORPHA:117 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
OMIM:180849 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Hypertelorism, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcific... |
ORPHA:1914 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Subcutaneous nodule, Thrombocytopenia, Purpura |
ORPHA:529 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos... |
ORPHA:35173 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Emphysema, Hepatitis |
ORPHA:60 |
Peutz-Jeghers Syndrome |
|
Macule, Melanonychia, Pancreatic adenocarcinoma, Neoplasm of the nose, Gastrointestinal hemorrhag... |
ORPHA:2869 |
Lig4 Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Pancytopenia, Hypoplasia of penis, Telangiectasia of the s... |
ORPHA:99812 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... |
ORPHA:206484 |
Vici Syndrome |
|
Albinism, Micrognathia, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymu... |
OMIM:242840 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, ... |
OMIM:615637 |
Infantile Systemic Hyalinosis |
|
Abnormal dental morphology, Telangiectasia of the skin, Short neck, Subcutaneous nodule, Gingival... |
ORPHA:2176 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia, Recurrent infections |
OMIM:614493 |
Syndromic Diarrhea |
|
Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... |
ORPHA:84064 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Anorexia, Splenom... |
ORPHA:33226 |
Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... |
OMIM:103285 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Deep philtrum, T lymphocy... |
OMIM:251260 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Micrognathia, A... |
OMIM:610883 |
Tufted Angioma |
|
Petechiae, Thrombocytopenia, Localized skin lesion, Hypertrichosis, Neoplasm of the skin, Facial ... |
ORPHA:1063 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Redundant skin, Hypertelo... |
OMIM:613177 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... |
OMIM:610333 |
Chediak-Higashi Syndrome |
|
Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Iris hypopigmentat... |
OMIM:214500 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutr... |
ORPHA:95455 |
Thanatophoric Dysplasia |
|
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff... |
ORPHA:2655 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura |
ORPHA:743 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... |
OMIM:616100 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Skin ulcer, Erythroderma |
ORPHA:312 |
Lhermitte-Duclos Disease |
|
Acrokeratosis, Fibroadenoma of the breast, Hydrocephalus, Ovarian neoplasm, Trichilemmoma, Macrog... |
ORPHA:65285 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Dermal atr... |
OMIM:278700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Skin rash, Kyphoscoliosis, Fluctuating hepatomegaly, Flu... |
OMIM:610377 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Epicanthus, Ventriculomegaly, Hydrocephalus, Leukemia, Nephroblastoma, Downslant... |
OMIM:602501 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... |
ORPHA:314473 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Inability to walk, Proptosis, Scoliosis, Joint contracture |
OMIM:617481 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormal eyelid morphology, Subcutaneous nodule, Scaling skin, Abnormal toenail morphology, Abnor... |
ORPHA:2526 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Hypertelorism, Abnormal subc... |
ORPHA:357074 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Epicanthus, Recurrent urinary tract infections, Hypospadias, Abnormality of the ... |
ORPHA:363444 |
Nasu-Hakola Disease |
|
Hydrocephalus, Acute leukemia, Irritability, Disinhibition, Abnormal adipose tissue morphology, V... |
ORPHA:2770 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia |
OMIM:269600 |
Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Recurrent viral inf... |
OMIM:609981 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Scoliosis, Nevus flammeus, Papule |
ORPHA:624 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Hypertelorism, Self-injurious behavior, Proptosis, Attention deficit hyperactivi... |
OMIM:618354 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Large vessel vasculitis, Iron deficiency anemia, Inflammation of the la... |
OMIM:301000 |
Granulomatous Slack Skin |
|
Redundant skin, Erythema, Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology, Cutis laxa,... |
ORPHA:33111 |
Tuberous Sclerosis Complex |
|
Epidermoid cyst, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, ... |
ORPHA:805 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Epicanthus, Psoriasiform dermatitis, Pancytopenia, Myelodysplas... |
OMIM:606593 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Corneal opacity, Hypertelorism, Increased intervertebral space, Th... |
OMIM:618961 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chr... |
OMIM:269200 |
Crouzon Syndrome |
|
Hypertelorism, Abnormal sacrum morphology, Hydrocephalus, Hypopigmented skin patches, Respiratory... |
ORPHA:207 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal ca... |
ORPHA:314478 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy |
ORPHA:99976 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set... |
OMIM:619435 |
Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Scoliosis, Aggressive behavior |
ORPHA:85335 |
Juvenile Nasopharyngeal Angiofibroma |
|
Epistaxis, Proptosis, Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma |
ORPHA:289596 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Hydrocephalus, Shuffling gait, Ventriculomegaly |
OMIM:303350 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Leukopenia, Increased circulating IgG level, Periungual erythema, Sparse hair, Pustular... |
OMIM:615934 |
Hamamy Syndrome |
|
Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Sparse hair, Abnormal number... |
OMIM:611174 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma, Lymphadenopathy, Neoplasm of the s... |
OMIM:254400 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Seckel Syndrome 1 |
|
Pancytopenia, Hyperactivity, Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia... |
OMIM:210600 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Renal insufficiency, Abnormal de... |
ORPHA:79430 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Severe... |
OMIM:615387 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, P... |
ORPHA:79312 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Leprosy |
|
Urticarial plaque, Absent eyebrow, Hypopigmented macule, Alopecia, Epistaxis, Abnormality of the ... |
ORPHA:548 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Melanocytic nevus, Proptosis, Hydrocephalus, Hypertelorism |
OMIM:612247 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Scaling skin, Acute hepatitis, Ma... |
ORPHA:39812 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Hepatomegaly, Epicanthus, Splenomegaly, Increased vertebral height, Vacuol... |
OMIM:248500 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Skin ulcer, Microcor... |
ORPHA:1806 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Thrombocytopenia, Splenomegaly, CSF ple... |
ORPHA:158048 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Oral ulcer, Recurrent infections, Leukopenia, Irritabilit... |
OMIM:229050 |
Localized Scleroderma |
|
Fasciitis, Uveitis, Hashimoto thyroiditis, Abnormal skin adnexa morphology, Abnormality of the ki... |
ORPHA:90289 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Oral ulcer, Leukopenia, Nephritis, Alopecia, Raynaud phenomenon, Lymphadenopathy, Nephr... |
ORPHA:93552 |
Bloom Syndrome |
|
Recurrent herpes, Micrognathia, Severe varicella zoster infection, Paronychia, Uveitis, Neoplasm,... |
ORPHA:125 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Hypertrophic cardio... |
OMIM:619902 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Muenke Syndrome |
|
Low anterior hairline, Dental malocclusion, High palate, Attention deficit hyperactivity disorder... |
OMIM:602849 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Pontocerebellar Hypoplasia Type 10 |
|
Irritability, Proptosis |
ORPHA:411493 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Hypoplastic toenails, High palate, Widely spaced teeth, Vesicoureteral reflux, Abno... |
OMIM:606232 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Systemic Sclerosis |
|
Intestinal bleeding, Acral ulceration, Alopecia, Barrett esophagus, Abnormality of the kidney, Di... |
ORPHA:90291 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Telangiectasia of the skin, Seborrheic dermatitis, Pustule, Hypopigmen... |
ORPHA:302 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Short neck, Micrognathia, Hypoplasia of the thymus, Abnormality of th... |
ORPHA:567 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Osteoarthriti... |
ORPHA:77259 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Preauricular pit, Everted upper lip vermilion, Highly arched eyebrow, Myelodysplasia, Supernumera... |
OMIM:619951 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Ce... |
OMIM:614034 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Micrognathia, Cryptorchidism, Retrognathia, Leukemia, Hypoplastic anemia, Thrombocy... |
OMIM:194350 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
6P22 Microdeletion Syndrome |
|
Redundant skin, Short neck, Hydrocephalus, Hypotelorism, Deeply set eye, Hernia |
ORPHA:251046 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Depression, Anterior open-bite malocclusion, Hashimoto thyroid... |
ORPHA:83601 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Plantar pits, Cardiac fibroma, Orofacial cleft, Odontogenic keratocysts ... |
ORPHA:77301 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Sparse hair, Micropenis, Hepatomegaly, Cryptorchidism, Hypoplasi... |
OMIM:216400 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... |
OMIM:616871 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Melanoma, Conjunctivitis, Dermal atro... |
OMIM:278740 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails,... |
ORPHA:2930 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opacifi... |
OMIM:256800 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Oral ulcer, Uveitis, Skin ulcer,... |
OMIM:608710 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Cutis laxa, Proptosis, Scoliosis |
OMIM:619451 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... |
ORPHA:167 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Astrocytoma, Angiofibromas, Subcutaneous nodule, Subependymal gia... |
OMIM:613254 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash |
OMIM:619175 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Brucellosis |
|
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased cir... |
ORPHA:1304 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Tenorio Syndrome |
|
Mandibular prognathia, Telecanthus, Ventriculomegaly, Raynaud phenomenon, Hydrocephalus, Recurren... |
OMIM:616260 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Increased circulating myelocyt... |
ORPHA:36234 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, External genital hypoplasia, Short neck, Micrognathia, High palate, Short philtr... |
ORPHA:251028 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Pruritus, Erythema, Lymphoma, Neoplasm, Multiple ... |
ORPHA:454 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Short philtrum, High palate, Chr... |
ORPHA:96121 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Microcornea, Hypoplasia of the iris, Sparse hair, Micropenis, He... |
OMIM:133540 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Telangiectasia, Abnormality of the clitori... |
ORPHA:101028 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental ... |
ORPHA:1133 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean ... |
OMIM:617718 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Polycystic ovaries, Recurrent otitis media, Polyphagia, Ventriculomegaly |
OMIM:616831 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus, Proptosis, Neurofibroma |
ORPHA:2086 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Epicanthus, Penile freckling, Splenomegaly, Cutis laxa, Hydrocele testis, Decreased... |
OMIM:605309 |
Ogden Syndrome |
|
Inguinal hernia, Cryptorchidism, Pulmonary artery stenosis, Cutis laxa, Proptosis, Shuffling gait... |
ORPHA:276432 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232220 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections |
ORPHA:139406 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Conjunctivitis, Dermal atrophy, Squam... |
OMIM:278720 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Oral ulcer, Colitis, Lymphopenia, ... |
OMIM:616744 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Congestive heart failure, Scoliosis, Dysphagia, Pulmonary arterial hypertension, Thromboc... |
OMIM:619751 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233710 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... |
ORPHA:435660 |
H Syndrome |
|
Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Psoriasiform dermatitis, Abnormality of t... |
ORPHA:168569 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... |
OMIM:618969 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, H... |
OMIM:617201 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Polyarteritis Nodosa |
|
Abnormal lung morphology, Erythema, Subcutaneous nodule, Skin ulcer, Pleuritis |
ORPHA:767 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Hypergonadotropic hypogonadism, Dry skin, Polycystic ovaries |
OMIM:268020 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Dry skin, Lymphad... |
OMIM:617827 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... |
ORPHA:353277 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Paronychia, Sepsis, Renal cyst, Gastrointest... |
ORPHA:79404 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Chron... |
OMIM:158310 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Co... |
OMIM:278750 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Short neck, Hypertelorism, Kyphosis, Precocious puberty, Cryptorchidi... |
ORPHA:254346 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Cataract, Kyphoscoliosis, Inability to walk, Developmental glaucoma, Pene... |
ORPHA:99956 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenome... |
OMIM:309900 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... |
OMIM:616622 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Chronic ... |
ORPHA:36913 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233690 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Sarcoidosis |
|
Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Subcutaneous nodule... |
ORPHA:797 |
16Q24.3 Microdeletion Syndrome |
|
Micrognathia, High palate, Chronic otitis media, Highly arched eyebrow, Cryptorchidism, Dilated c... |
ORPHA:261250 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Prur... |
ORPHA:64743 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Ocular albinism, Epistaxis, Skin ulcer |
ORPHA:352723 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, H... |
OMIM:613330 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Hypertelorism, Hydrocephalus, Abnormality of the vertebral column, Proptosis, Ven... |
OMIM:109120 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... |
ORPHA:97290 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Juv... |
OMIM:163950 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Neonatal respiratory distress, Lipoatrophy, Ectopia lentis, Emphysema, Flexion cont... |
ORPHA:284979 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Kyphoscoliosis, Hemolytic-uremic syndrome, Malar flattening, Thrombocytopenia, Amel... |
OMIM:614727 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Prur... |
ORPHA:95159 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Endometriosis, Micrognathia, Carious teeth, Unilateral renal ... |
OMIM:613680 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Inguinal hernia, Cataract, Short neck, Coronal cleft verte... |
OMIM:156550 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Ventriculomegaly, Seborrheic dermatitis, Thrombocytopeni... |
OMIM:301072 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Pruritus, Myoca... |
ORPHA:829 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Kyphosis, Dysmetria, Mi... |
ORPHA:48431 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Emphysema, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Pa... |
ORPHA:363618 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... |
ORPHA:163596 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Meningitis... |
ORPHA:781 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Neonatal asphyxia, Neutropenia in... |
ORPHA:525731 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Hypertelorism, Alobar holoprosencephaly, Cryptorchidism, Kyphosis, Attention deficit hyperactivit... |
OMIM:615433 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Pteryg... |
OMIM:265000 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... |
OMIM:611209 |
Myopathy, Myofibrillar, 8 |
|
Spinal rigidity, Micrognathia, Dental malocclusion, Mitral regurgitation, High palate, Scoliosis,... |
OMIM:617258 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Kyphoscoliosis, Cigarette-paper scars, Dental malocclusion, Irregular ... |
OMIM:612350 |
Congenital Enterovirus Infection |
|
Ventriculomegaly, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocyt... |
ORPHA:292 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... |
ORPHA:435651 |
Emanuel Syndrome |
|
Redundant neck skin, Hooded eyelid, Dental crowding, Micrognathia, Recurrent candida infections, ... |
ORPHA:96170 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Increased circulating IgE level, D... |
ORPHA:1858 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Anemia, Panniculitis, Cystic acne, Small ... |
OMIM:608068 |
Von Hippel-Lindau Disease |
|
Back pain, Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal p... |
ORPHA:892 |
Wilson Disease |
|
Back pain, Hepatomegaly, Aggressive behavior, Pruritus, Thrombocytopenia, Splenomegaly, Jaundice,... |
ORPHA:905 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Parkes Weber Syndrome |
|
Back pain, Hemangiomatosis, Subarachnoid hemorrhage, Myelopathy, High-output congestive heart fai... |
ORPHA:90307 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Polycystic ovaries, Deeply set eye, Abnormal testis... |
ORPHA:1227 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Abnormal sacrum morphology, Hydrocephalus, Respiratory insufficiency, Abnormal for... |
ORPHA:93262 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Thin upper lip vermilion, Recurrent respiratory infections, External genital hypopl... |
ORPHA:329178 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Cog4-Cdg |
|
Neonatal sepsis, Thick hair, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Ir... |
ORPHA:263501 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of n... |
OMIM:169400 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... |
OMIM:188400 |
Frontoocular Syndrome |
|
Hypotelorism, Proptosis, Capillary hemangioma, Nevus flammeus, Glabellar hemangioma |
OMIM:605321 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Erythema, Vasculitis, Chronic CSF lymph... |
OMIM:225750 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth, Malar flattening... |
OMIM:616108 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor... |
OMIM:148210 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, M... |
OMIM:607115 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Flexion contracture, Abn... |
OMIM:263210 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Tachycardia, Disseminated viral infection, Thrombocytopenia, Leuko... |
ORPHA:90051 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Hepatic steatosis, Decreased proportion o... |
OMIM:619573 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Hepatomegaly,... |
OMIM:253220 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni... |
OMIM:219100 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Cirrhosis, Portal hypertension |
OMIM:210050 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Familial Cold Urticaria |
|
Pruritus, Erythema, Arthritis, Conjunctivitis, Polydipsia |
ORPHA:47045 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Persistence of ... |
OMIM:259710 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hemangiomatosis, Renal hypoplasia/aplasia, Visceral angiomatos... |
ORPHA:2123 |
Gardner Syndrome |
|
Astrocytoma, Epidermoid cyst, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepat... |
ORPHA:79665 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Ptosis |
OMIM:608931 |
Lassa Fever |
|
Back pain, Shock, Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Conjunctivitis, Dy... |
ORPHA:99824 |
Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Proptosis, Bicornuate uterus, Abnorm... |
ORPHA:2143 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Hepatomegaly, Abnor... |
ORPHA:191 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Difficulty walking, Scoliosis |
OMIM:617087 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
Hurler Syndrome |
|
Short neck, Microdontia, Hepatomegaly, Hypoplasia of the odontoid process, Gingival overgrowth, H... |
OMIM:607014 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma... |
ORPHA:238468 |
Steinert Myotonic Dystrophy |
|
Brain neoplasm, Tented upper lip vermilion, Decreased response to growth hormone stimulation test... |
ORPHA:273 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... |
ORPHA:53715 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia |
OMIM:618323 |
Schwartz-Jampel Syndrome |
|
Short neck, Micrognathia, Low anterior hairline, Microcornea, High palate, Generalized hirsutism,... |
ORPHA:800 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Retrobulbar optic neuritis... |
ORPHA:1451 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Preauricular pit, Sacral dimple, Pulmonary cyst, Inguinal hernia, Hypertelorism, Kyphosis, Umbili... |
OMIM:618272 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Inguinal hernia, Flat cornea, Spontaneous pneumothorax, Ectopia lent... |
ORPHA:558 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Facial capillary hemangioma, Micrognathia, Vesicoureteral reflux, Axial mal... |
OMIM:274000 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Dental malocclusion, High palate, Downslanted palpebral fissures |
OMIM:618292 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... |
OMIM:619774 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Intracranial hemorrhage, Nevus, Hemangioma, Abnorma... |
ORPHA:398189 |
Winchester Syndrome |
|
Kyphosis, Subcutaneous nodule, Corneal opacity |
OMIM:277950 |
Adult Polyglucosan Body Disease |
|
Gait disturbance, Ataxia, Skin ulcer |
ORPHA:206583 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Sepsis, Skin ulcer, Cellulitis |
ORPHA:280062 |
Chromosome 5P13 Duplication Syndrome |
|
Hypertelorism, Hypotelorism, Self-injurious behavior, Astigmatism, Proptosis, Compulsive behavior... |
OMIM:613174 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Abnormality of the dentition, R... |
OMIM:615952 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do... |
ORPHA:261494 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Recurrent bacterial infections, Aminoac... |
OMIM:603585 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased CSF protein concentration, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Spl... |
OMIM:603553 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Precocious puberty in females, Elevated circulating growth hormone concentration, ... |
ORPHA:249 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Macule, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Anorexia, Gast... |
ORPHA:761 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... |
ORPHA:93672 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Gout, Recurrent infections, Renal cyst, Focal segmental glomerulosclerosi... |
OMIM:617056 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Nevus, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Deeply set eye, Multiple e... |
OMIM:620189 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:615290 |
Caffey Disease |
|
Proptosis, Respiratory insufficiency, Scoliosis, Cellulitis |
ORPHA:1310 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Holoprosencephaly 11 |
|
Proptosis, Holoprosencephaly, Polysplenia, Hypotelorism |
OMIM:614226 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Anorexia, Mediastinal lymphadenopathy, Splenomegaly, Hydrocephalus, Respira... |
ORPHA:3452 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Proptosis, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Microhydranencephaly |
|
Multiple joint contractures, Athetosis, Proptosis, Hydranencephaly, Self-mutilation, Ventriculome... |
OMIM:605013 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Uveitis, Renal... |
ORPHA:488618 |
B4Galt1-Cdg |
|
Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Thin upper lip vermilion... |
ORPHA:79332 |
Craniosynostosis 3 |
|
Dental malocclusion, Low anterior hairline, Ptosis |
OMIM:615314 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Emanuel Syndrome |
|
Dental crowding, Micrognathia, High palate, Micropenis, Dandy-Walker malformation, Preauricular p... |
OMIM:609029 |
Martin-Probst Syndrome |
|
Bifid scrotum, Epicanthus, Pancytopenia, Telecanthus, Renal insufficiency, Proteinuria, Micrognat... |
OMIM:300519 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff... |
ORPHA:1860 |
Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Pruritus, Hyp... |
ORPHA:79455 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Hypertelorism, Abnormal form of the vertebral bodies, Dysphagia, Proptosis, Hepatic... |
ORPHA:73230 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... |
OMIM:209885 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Dental crowding, Downturned corners of mouth, Hyperactivity, Tongue thrusting, Thick vermilion bo... |
ORPHA:261323 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Ataxia, Splenomegaly, Kyphosis, Dyspnea, Flexion ... |
ORPHA:87876 |
Kabuki Syndrome 2 |
|
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion,... |
OMIM:300867 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners of mouth... |
ORPHA:3310 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Hypertelorism, Short neck, Hydrocephalus, Nevus flammeus, Umbilical hernia |
ORPHA:1516 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Corneal opacity, Abnormality of the tonsils, Splenom... |
ORPHA:579 |
Acalvaria |
|
Omphalocele, Spina bifida, Hypertelorism, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly |
ORPHA:945 |
Teebi Hypertelorism Syndrome 2 |
|
Proptosis, Hypospadias, Attention deficit hyperactivity disorder, Hypertelorism |
OMIM:619736 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Short neck, Micrognathia, Renal cyst, Micropenis, Dandy-Walker malformation, Multi... |
OMIM:257300 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Erythema, Abnormality of the lympha... |
ORPHA:36237 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, A... |
ORPHA:319487 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Capillary ... |
ORPHA:573278 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Epicanthus, Decreased response to growth hormone stimulation test, Hyp... |
ORPHA:2980 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Deeply set eye, Agitation |
OMIM:300558 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Palmar pits, Hydrocephalus, Plantar pits, Neurofibroma, Medulloblastoma, Basal cel... |
OMIM:620343 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Short neck, Micrognathia, Renal cyst, Hepatic fibrosis, Widely... |
OMIM:266920 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Erythroderma, Micropenis |
OMIM:618840 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Abnormal oral cavi... |
ORPHA:42642 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Abnormal left ventricular function, Leukopenia, Vesicoureteral reflux, Micro... |
OMIM:301056 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Men... |
ORPHA:37042 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Focal segmental glomerul... |
OMIM:136680 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemiver... |
OMIM:302960 |
Holoprosencephaly 5 |
|
Syntelencephaly, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly,... |
OMIM:609637 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Localized skin lesion, Erythema... |
ORPHA:449285 |
Nijmegen Breakage Syndrome |
|
Abnormal eyelid morphology, Short neck, Deep philtrum, Low anterior hairline, Neoplasm, Hemolytic... |
ORPHA:647 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Apl... |
ORPHA:290 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Sepsis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepat... |
ORPHA:480520 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion |
OMIM:155050 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Re... |
OMIM:619708 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Sy... |
OMIM:252930 |
Hurler Syndrome |
|
Short neck, Abnormal vertebral morphology, Generalized hirsutism, Hepatomegaly, Abnormality of th... |
ORPHA:93473 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, ... |
ORPHA:514 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Erythema, Subcutaneous nodule, Lymphadenopathy, Papule, Anemia |
ORPHA:158014 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, C... |
ORPHA:93476 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Short neck, Thrombocytopenia, Synophrys, Micron... |
OMIM:606003 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Epicanthus, Dental crowding, Kyphoscoliosis, Splenomegal... |
OMIM:616354 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Renal cyst, Postauricular pit, Vertebral segmentation defect, Hepatoblasto... |
OMIM:312870 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cough, Splenomegaly, Flexio... |
ORPHA:77260 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Oral ulcer, Postauricular pit, T lymphocytopenia... |
OMIM:619381 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... |
OMIM:105200 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb... |
OMIM:616580 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... |
OMIM:614328 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Premature l... |
OMIM:102500 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Redundant neck skin, Hypertelorism, Thyroid lymphangiectasia, Shor... |
OMIM:235255 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Diastema, Dental malocclusion, Upslanted palpebral fissure, Malar flatt... |
ORPHA:436245 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Dental crowding, Eosinophilia, Eczema, Thoracolumbar scoliosis,... |
OMIM:618523 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Telecanthus, Multicystic kidney dysplasia, Hyperlordosis, Pierre-Robin sequence, Clef... |
OMIM:619980 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Platyspondyly, Recurrent pneumonia, Scoliosis |
OMIM:602271 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Hypospadias, Dental crowding, Hyperlordosis, Micrognathi... |
OMIM:615761 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hydrocephalus, Subcutaneous nodule, Hypopig... |
ORPHA:626 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Sepsis, Anemia, Renal tubular dysfunction, Neutropenia, Pancre... |
ORPHA:289916 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased CSF protein concentration, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, CSF ... |
OMIM:267700 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen,... |
OMIM:121300 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Scoliosis, ... |
ORPHA:276280 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Ichthyosis With Confetti |
|
Pruritus, Hypertrichosis, Hypoplastic nipples, Scaling skin, Erythroderma, Ectropion |
OMIM:609165 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small scrotum, Inguinal hernia, Recurrent urinary tract infections, Portal hyperten... |
OMIM:613658 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Carious teeth, Congestive heart failure, Oliguri... |
ORPHA:220393 |
Coach Syndrome 1 |
|
Encephalocele, Hepatomegaly, Occipital encephalocele, Portal hypertension, Unilateral renal agene... |
OMIM:216360 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum, Small nail |
OMIM:300210 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Ptosis, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth,... |
ORPHA:2617 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Cle... |
ORPHA:2890 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Ovarian neoplasm, Hypertension, Adrenocortical adenoma, Renal cortical adenoma |
ORPHA:231632 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Lipodystrophy, Adi... |
ORPHA:528 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Hig... |
ORPHA:85212 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Proptosis, Flexion contracture, Thin skin |
ORPHA:157965 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Lymphad... |
OMIM:306400 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, T... |
ORPHA:99828 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Macule, Glomerulopathy, Alopecia, H... |
ORPHA:728 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... |
OMIM:616756 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Cough, Skin vesicle, Intermittent generalized erythemat... |
ORPHA:99921 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Microcornea, Renal neoplasm, Repeated pneumoth... |
ORPHA:536467 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Hypertelorism, Scoliosis, Depression |
ORPHA:276630 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Palmoplantar scaling skin, Scaling skin, Nail dystrophy, Erythroderma, Sparse... |
ORPHA:100976 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Persistence of primary teeth, Supernu... |
OMIM:619752 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Proptosis, Abnormal r... |
ORPHA:2522 |
Kosaki Overgrowth Syndrome |
|
Thoracolumbar scoliosis, Depression, Xanthelasma, Proptosis, Thin skin, Scoliosis, Myofibromatosis |
OMIM:616592 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... |
ORPHA:335 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Hypertelorism... |
ORPHA:2834 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Epicanthus, True hermaphroditism, Nephroblastoma, Septate vagina, Go... |
OMIM:194080 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma, Anterior beaking... |
OMIM:230650 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia |
OMIM:252270 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Biliary tract abnormality, Brea... |
OMIM:175200 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Metatropic Dysplasia |
|
Cataract, Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephal... |
ORPHA:2635 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Ju... |
OMIM:607944 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Deeply set eye, Scoliosis, Micropenis, Sche... |
OMIM:301900 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... |
ORPHA:101096 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... |
ORPHA:100924 |
Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Pruritus, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality... |
ORPHA:254478 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Pilomatrixoma, ... |
ORPHA:247806 |
African Trypanosomiasis |
|
Erythematous macule, Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnorm... |
ORPHA:3385 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... |
ORPHA:1467 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Sandwich appearance of vertebral bodies, Carious teeth... |
OMIM:259700 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... |
OMIM:181000 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Uterine rupture, Ecchymosis, Emphysema, Keratoconus, Repeated ... |
OMIM:130050 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Recurrent respiratory ... |
OMIM:613385 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Ventriculomegaly, Aplasia/Hypoplasia of the skin, Corneal opacity, Congenital diaphrag... |
ORPHA:1647 |
Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Hemivertebrae, Uveitis, Coarse hair, Oligodontia, Pallor, Sparse hair... |
OMIM:308300 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly, Jaundice, Re... |
ORPHA:549 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Panc... |
ORPHA:284 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Epicanthus, Aggressive behavior, Dental malocclusion, Upslanted palpebr... |
OMIM:619149 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Aggressive behavior, High palate, Lumbar scoliosis, Conjunctival hyperemia |
OMIM:619548 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Short neck, Micrognathia, Renal cyst, Fused teeth, High palate, W... |
OMIM:613610 |
Hennekam-Beemer Syndrome |
|
Macule, Ventriculomegaly, Pneumonia, Camptodactyly of finger, Subcutaneous nodule, Erythema, Resp... |
ORPHA:2135 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... |
ORPHA:77297 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Abnormal form of th... |
ORPHA:666 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Hydrocephalus, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, De... |
ORPHA:220295 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Polycystic ovaries, Increased intraabdominal fat, Hepatic steatosis |
ORPHA:79085 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Renal hypoplasia/aplasia, Splenomegaly, Abnormali... |
ORPHA:1046 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect... |
OMIM:617443 |
Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia |
OMIM:613606 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Thin upper lip vermilion, Thoracolumbar scoliosis, Portal hypertension,... |
OMIM:610199 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Synophrys, Recurren... |
OMIM:252920 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... |
OMIM:619281 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... |
OMIM:620351 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Deeply set eye, T lymphocytopenia, Capillary hemangioma, Abnormal... |
ORPHA:508533 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusio... |
ORPHA:2115 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Ventriculomegaly, Cataract, Petechiae, Renal insufficiency, Sple... |
OMIM:251290 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Hypopigmented macule, Epicanthus, Pancytopenia, Anemic pallor, Hype... |
OMIM:227645 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Emphysema, Bronchiectasis,... |
ORPHA:90348 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Ectopia lentis, ... |
OMIM:616914 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Hypertelorism, Kyphosis, Respiratory insufficiency, Kne... |
OMIM:313420 |
Williams Syndrome |
|
Hypoplasia of penis, Redundant skin, Myocardial infarction, Cardiomegaly, Micrognathia, Hypoplast... |
ORPHA:904 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Anemia, Abnormal form of the vertebral bodies |
ORPHA:1802 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Subcutaneous nodule, Recurrent candida infections, G... |
ORPHA:48435 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the m... |
OMIM:615546 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Abnormal dental morphology, Supe... |
ORPHA:2136 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Hypertelorism, Abnormality of the pancreas, Cryptorchidism, ... |
ORPHA:1555 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Skin tags, Brain abscess, Lumbar hyperlordosis, Redundant skin, Urinary incontinence, Kyphosis, H... |
OMIM:616482 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Cataract, Proptosis |
ORPHA:90653 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Hypertelorism, Cryptorchidism, Kyphosis, Astigmatism, Scoliosis, Ventriculomegaly |
OMIM:619797 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform dermatitis, Chronic ... |
ORPHA:69085 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Hypertelorism, Cryptorchidism, Increased circulating gon... |
ORPHA:8 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Severe viral in... |
ORPHA:79128 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural k... |
ORPHA:158061 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Thick lower lip vermilion, Low anterior hairline, Gingival overg... |
OMIM:618658 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Reduced subcutaneous adipose tissue, Cataract, Kyphoscoliosis, Ectop... |
OMIM:154700 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Gonadal hypoplasia, Telang... |
OMIM:278800 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Facial capillary hemangioma, Micrognathia, Renal c... |
OMIM:270400 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, Irritability, Hypoglycorr... |
OMIM:612126 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phe... |
ORPHA:536 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Ventriculomegaly, Hypospadias, Aggressive behavior, Kyphosis, Cryptorchidism, Gait... |
OMIM:300354 |
Generalized Eruptive Keratoacanthoma |
|
Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Papu... |
ORPHA:411777 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Inguinal hernia, Cataract |
OMIM:618392 |
Cornelia De Lange Syndrome 1 |
|
Short neck, Micrognathia, High, narrow palate, Synophrys, Ectopic kidney, Renal cyst, Microcornea... |
OMIM:122470 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Inguinal hernia, Cataract, Recurrent urinary tract infections, Redundant skin, Pneumothorax, Recu... |
ORPHA:90349 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Premature thelarche, Localized skin lesion, Subcutaneous nodule, Abnormal form of th... |
ORPHA:371428 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Melanoma, Conjunctivi... |
OMIM:278730 |
Marburg Hemorrhagic Fever |
|
Back pain, Anorexia, Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology,... |
ORPHA:99826 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Dilated cardiomyopathy,... |
OMIM:230500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervo... |
ORPHA:99818 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Chronic otit... |
ORPHA:2750 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Respiratory insufficiency due to muscle weakness, Inability to walk, Kyphosis, Crypto... |
OMIM:611890 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Decreased response to growth... |
OMIM:619234 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Trisomy 13 |
|
High, narrow palate, Capillary hemangioma, Iris coloboma, Preauricular pit, Abnormal eyelash morp... |
ORPHA:3378 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Corneal opacity, Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptor... |
ORPHA:2409 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Attention deficit hyperactivity disorder |
OMIM:620007 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Cataract, Sudden cardiac death, Self-injurious behavior, Erythr... |
ORPHA:457 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypospadias, Kyphosis, Aplasia/Hypoplasia of the lungs, Scolios... |
ORPHA:1548 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Scrub Typhus |
|
Macule, Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Meningitis, ... |
ORPHA:83317 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Localized skin lesion, Splenomegaly, Congestive heart failu... |
ORPHA:3386 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gal... |
ORPHA:171 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Dental malocclusion, Platyspondyly, Scoliosis, Recurrent otitis media, Se... |
OMIM:608940 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den... |
ORPHA:3079 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Thin vermilion border, Scaling skin, Erythroderma, Dry skin, Ventriculomegaly |
OMIM:609180 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Uterine prolapse, Emphysema... |
OMIM:123700 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Sacral dimple, Redundant neck skin, Hypospadias, Hypertelorism, Proptosis, Shawl s... |
OMIM:239710 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Lipogranulomatosis, Arthritis, Irritability, Per... |
OMIM:228000 |
Essential Thrombocythemia |
|
Transient ischemic attack, Abnormality of thrombocytes, Myelodysplasia, Myocardial infarction, Sp... |
ORPHA:3318 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Sclerotic vertebral endplates, Th... |
OMIM:611490 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, External genital hyp... |
ORPHA:177907 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Anemia |
ORPHA:2598 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... |
OMIM:300718 |
Temple Syndrome |
|
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... |
ORPHA:254516 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Paroxysmal supraventricular tachycardia, Toenail dyspl... |
OMIM:617877 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... |
OMIM:257200 |
Dextrocardia |
|
Abnormal EKG, Abnormal reproductive system morphology, Abnormality of the spleen, Hydrocephalus, ... |
ORPHA:1666 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red sp... |
ORPHA:354 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hep... |
ORPHA:79259 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Epicanthus, Abnormal intervertebral disk morphology, Abnormal fingernail morph... |
ORPHA:2701 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... |
OMIM:252940 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Hypertelorism, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Mucopolysaccharidosis, Type Vi |
|
Anterior wedging of L1, Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurgitation, Anterior wed... |
OMIM:253200 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary ... |
OMIM:615758 |
Neurofibroma |
|
Skin tags, Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar ne... |
ORPHA:252183 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Hydrocephalus, Tachypnea, Renal cyst, Polycystic ova... |
ORPHA:137675 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Trisomy 17P |
|
Hypoplasia of penis, Short neck, Micrognathia, Orofacial cleft, High palate, Generalized hirsutis... |
ORPHA:261290 |
Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm... |
ORPHA:424016 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, S... |
ORPHA:90033 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hypertelorism, Abnormal pulmonary interst... |
OMIM:617180 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Short neck, Sparse eyebrow, Cryptorchidism, Micrognathia, Dental malocclusion, Alveolar... |
ORPHA:444072 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Deeply set eye, Scoliosis |
ORPHA:2429 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Orofacial cleft, Postauricular pit, Microcornea, Premature graying of hair, High p... |
ORPHA:1297 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Bethlem Myopathy 2 |
|
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis |
OMIM:616471 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Inguina... |
OMIM:618188 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Unilateral renal agenesis, Hypoplas... |
OMIM:101800 |
Ck Syndrome |
|
Epicanthus, Hyperactivity, Dental crowding, Hyperlordosis, Almond-shaped palpebral fissure, Kypho... |
OMIM:300831 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Kyphosis, Inability to walk, Ton... |
ORPHA:3095 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukop... |
ORPHA:124 |
Shashi-Pena Syndrome |
|
Hypertelorism, Kyphosis, Mild fetal ventriculomegaly, Proptosis, Capillary malformation, Scoliosi... |
OMIM:617190 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Inability to walk, Gait ataxia, Dyspha... |
ORPHA:500180 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Fair hair, Hypospadias, Eczema, Recurrent herpes, Hyperpigmented/hypopigmented macu... |
OMIM:620331 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurre... |
OMIM:252900 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Tracheomalacia, Hypertelorism, Short neck, Kyphosis, Male pse... |
ORPHA:140 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Corneal opacity, Micrognath... |
OMIM:607015 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Abnormality of the kidney, Epistaxis, Myocardial infarction, Giant pl... |
OMIM:155100 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Dyspnea, Sub... |
ORPHA:324 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Asthma, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Decre... |
OMIM:619632 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Larsen-Like Syndrome |
|
Kyphoscoliosis, Dental malocclusion, Cleft palate, Recurrent otitis media, Malar flattening |
OMIM:608545 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Orofacial cleft, Urethral atresia, Coarse ... |
ORPHA:1896 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Jaundice, Hydrocephalus, Frontal hirsutism |
OMIM:129850 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Prur... |
ORPHA:53035 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Prurit... |
OMIM:607626 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal d... |
OMIM:227646 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis, Attention deficit hyperactivity disorder, Goiter |
OMIM:274300 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Hypertelorism, Cryptorchidism, Meningocele,... |
ORPHA:2789 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Dysmetria, Microcoria, Increased CSF protein concentration |
OMIM:203450 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial tachy... |
ORPHA:49827 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Mu... |
OMIM:308205 |
Cerebellofaciodental Syndrome |
|
Cataract, Short neck, Sparse eyebrow, Cryptorchidism, Aggressive behavior, Dental malocclusion, F... |
OMIM:616202 |
Triploidy |
|
Omphalocele, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Hypertelorism, Short neck,... |
ORPHA:3376 |
Typhoid |
|
Macule, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Splenome... |
ORPHA:99745 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysplasia, ... |
OMIM:608776 |
Trichinellosis |
|
Skin rash, Abnormal cerebrospinal fluid morphology, Trismus, Increased circulating IgE level, Cen... |
ORPHA:863 |
Hypomelanosis Of Ito |
|
Cataract, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis,... |
OMIM:300337 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... |
ORPHA:319218 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... |
ORPHA:83617 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Hypertelorism, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cy... |
OMIM:311200 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Vesicoureteral reflux... |
OMIM:616894 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... |
OMIM:618223 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr... |
OMIM:616331 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Dilated third ventricle, Kyphosis, Cryptorchidism, Asthma, Hydr... |
ORPHA:500055 |
Sialuria |
|
Smooth philtrum, Hepatomegaly, Epicanthus, Thin upper lip vermilion, Splenomegaly, Synophrys, Low... |
OMIM:269921 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency 40 |
|
Hepatomegaly, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T l... |
OMIM:616433 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Dandy-Walker malformation, Osteomyelitis, Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Abnormality of the dentition, Mandibular osteomyeli... |
ORPHA:53 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Epistaxis, Lymphoma, Neuroblast... |
OMIM:601399 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Urethral stenosis, F... |
OMIM:613990 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Bundle branch block, Short neck... |
ORPHA:373 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Cockayne Syndrome Type 3 |
|
Dry hair, Microcornea, Premature graying of hair, Lentiglobus, Hepatomegaly, Renal hypoplasia, Ca... |
ORPHA:90324 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Short neck, Cryptorchidism, Hydrocephalus, Flexion contracture, Respiratory insuff... |
ORPHA:1865 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowt... |
OMIM:217090 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko... |
ORPHA:764 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Hydrocephalus, Inability to walk by childhood/adolescence, Flexion contracture, St... |
ORPHA:99947 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Abnormal curvature of the vertebral column, Deeply set eye, Tics, Compu... |
OMIM:619475 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Corneal erosion, Erythroderma, Abnormality of the nail, Ectropion |
ORPHA:79394 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Aortic regurgitation, Micrognathia, Erythroid hypoplasia, Synophrys, Thrombocy... |
OMIM:620072 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Neutropenia, Vesicour... |
OMIM:618460 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Melanoma, Dandy-Wa... |
OMIM:249400 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Sacral dimple, Hypospadias, Malfor... |
OMIM:614175 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... |
ORPHA:99880 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Synophrys, Atrioventricular block, Abnormal form of the vertebral bodi... |
ORPHA:581 |
Smith-Kingsmore Syndrome |
|
Smooth philtrum, Curly hair, Ventriculomegaly, Thin upper lip vermilion, Cryptorchidism, Wide mou... |
OMIM:616638 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Leukopenia, Cardiomyopath... |
ORPHA:27 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Tortuosity of conju... |
OMIM:230000 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Decreased cir... |
OMIM:620005 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
Baralle-Macken Syndrome |
|
Cataract, Inability to walk, Kyphosis, Cafe-au-lait spot, Striae distensae |
OMIM:619255 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
Becker Nevus Syndrome |
|
Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Spi... |
ORPHA:64755 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Short neck, Asplenia, Micrognathia, Hemivertebrae, High palate, Abnormality ... |
ORPHA:99776 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Lymphopenia, Epicanthus, Curly hair, Lacrimal duct stenosis, Short neck, Sp... |
OMIM:619745 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, D... |
OMIM:609757 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... |
OMIM:608594 |
Alg12-Cdg |
|
Redundant skin, Micrognathia, Sepsis, Short philtrum, Micropenis, Hypospadias, Partial absence of... |
ORPHA:79324 |
Bohring-Opitz Syndrome |
|
Sacral dimple, Neonatal respiratory distress, Supernumerary nipple, Hypertelorism, Flexion contra... |
OMIM:605039 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hypertelorism, Hydrocephalus, Apneic episodes in infancy, D... |
ORPHA:163961 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair,... |
OMIM:242300 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Prolonged QT interval, Cataract, Osteoma cutis, Decreased response to ... |
ORPHA:79444 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Sh... |
ORPHA:798 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri... |
OMIM:606612 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Skin rash, Maculopapular exanthema, Microscopic hematuria, Myocarditi... |
ORPHA:319213 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Polycystic ovaries, Generalized lipodyst... |
ORPHA:79086 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Short neck, Microvesicular hepat... |
OMIM:300855 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Developmental ... |
OMIM:251450 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Ataxia, Aggressive behavior, Hypertelorism, Hydrocephalus, Irritability, Self-injurious... |
OMIM:619833 |
Parathyroid Carcinoma |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... |
ORPHA:143 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Alopecia, Fair hair, External genital hypoplasia, Cardiomegaly,... |
ORPHA:79330 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Short neck, Lens luxation, Hypoplasia of the odontoid p... |
ORPHA:485 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Abnormality of the kidney, Protruding tong... |
ORPHA:93400 |
3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Inguinal he... |
ORPHA:7 |
Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Downturne... |
ORPHA:261318 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Meg... |
ORPHA:280 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Cut... |
OMIM:614437 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Colpocephaly, Renal cyst |
OMIM:614870 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Dental crowding, Micrognathia, ... |
OMIM:614008 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Hydrocephalus, ... |
ORPHA:244 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Pallor... |
OMIM:105650 |
Rift Valley Fever |
|
Back pain, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, CSF pleocytosis, Severe ... |
ORPHA:319251 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Cryptorchidism, Hypoplastic labia minora, Emphysema, Hemivertebrae, Flexion... |
OMIM:224690 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Hypogeusia, Recurrent candida infectio... |
OMIM:201100 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Kyphosis, Depression, Neoplasm, Agitation, Thin skin, Macronodular adrenal h... |
OMIM:219080 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in... |
OMIM:609814 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Leukopenia, Abnormality of the liver, Neoplasm, High pa... |
ORPHA:84 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, ... |
OMIM:253000 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Multicystic kidney dysplasia, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia,... |
ORPHA:261349 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Desbuquois Syndrome |
|
Proptosis, Camptodactyly of finger, Scoliosis, Short neck |
ORPHA:1425 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Pruritus, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pancytopenia, Cataract, Corneal opacity, Ataxia, Pneumonia, Short ne... |
ORPHA:309282 |
Isolated Polycystic Liver Disease |
|
Back pain, Hepatomegaly, Gastrointestinal hemorrhage, Polycystic liver disease, Abnormality of th... |
ORPHA:2924 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Cataract, P... |
ORPHA:974 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia... |
OMIM:234050 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Selective tooth agenesis, Squamous cell carcinoma, Neutropenia, Sparse hair, Mic... |
ORPHA:2909 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Recurrent infec... |
ORPHA:88 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid r... |
OMIM:614866 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, White scaling skin, Erythroderma |
OMIM:604777 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, G... |
OMIM:304340 |
Oculoectodermal Syndrome |
|
Hyperactivity, Epidermal nevus, Supernumerary nipple, Short neck, Preauricular skin tag, Pineal c... |
OMIM:600268 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Apnea, Nephroblastoma, Cardiomegaly, Hypertel... |
ORPHA:97297 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Aggressive behavior, Short neck, Proptosis, Thoracic kyphosis, Scoliosis |
OMIM:620250 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 32A |
|
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma |
OMIM:614893 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:101075 |
Aicardi-Goutières Syndrome |
|
Myositis, Cardiomegaly, Chronic CSF lymphocytosis, Eyelid coloboma, Micropenis, Chilblains, Rayna... |
ORPHA:51 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Corneal dystrophy, Hypertelorism, Kyphosis, Hydrocephalus, Flexion c... |
ORPHA:314588 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... |
ORPHA:97360 |
Muenke Syndrome |
|
Hypermelanotic macule, Hypertelorism, Hydrocephalus, Hypopigmented skin patches, Proptosis |
ORPHA:53271 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Micrognathia, Splenomegaly, High, narrow palate, Telangiectasia, Nail dysplasia, He... |
OMIM:608799 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
Dubowitz Syndrome |
|
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Otitis media, Megalocornea, D... |
OMIM:223370 |
Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Proptosis |
ORPHA:98757 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Thrombocytopenia, Prolonged QTc interval, Hematuria, Malar rash, Serosit... |
ORPHA:231111 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Preauricular pit, Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid c... |
OMIM:615560 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Hypertelorism, Prominent ... |
OMIM:300966 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Small scrotum, Camptodactyly of finger, Kyphosis, Cryptorchidism, Dyspnea, Naevu... |
ORPHA:2215 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Prolonged QT interval, Cataract, Osteoma cutis, Decreased response to ... |
ORPHA:79443 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent viral infections, Myelopathy, Recurrent candida infections, Organi... |
ORPHA:79241 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Proptosis, Scoliosis, Shallow orbits, Vertebral compr... |
OMIM:112240 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Pica, Renal cyst, High palate, Multicystic kidney dysplasia,... |
OMIM:614527 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... |
OMIM:617061 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Hypertrichosis, Abnormal lymphatic vessel morphology, Anemia, ... |
ORPHA:2330 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Albinism, Melanocytic nevus, Melanoma, Basal cell carcinoma, Squamous c... |
ORPHA:79434 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Short neck, Micrognathia, High palate, Abnormality of the uterus, Abnormal f... |
ORPHA:1655 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Proptosis |
OMIM:272440 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Linear Verrucous Nevus Syndrome |
|
Ventriculomegaly, Cataract, Astrocytoma, Verrucous papule, Neoplasm of the central nervous system... |
ORPHA:2611 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... |
OMIM:269700 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Sacral dimple, Epicanthus, Hypospadias, Tented upper lip vermilion, Microgna... |
OMIM:601390 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin, Persistent human papillomavirus infection |
OMIM:618231 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo... |
ORPHA:729 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cholestasis, Orofacial cleft, ... |
OMIM:615630 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Erythema, Scoliosis, Dry skin |
ORPHA:816 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Decreased heart rate variabili... |
OMIM:619005 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... |
ORPHA:340 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Recurrent respiratory infections, Thick hair, Splenomegaly, Irritability, Cirrhosis... |
OMIM:613489 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Hypertelorism, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Umbilical hernia |
ORPHA:2181 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Kyphos... |
ORPHA:2075 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... |
ORPHA:251380 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD4-positive helper... |
OMIM:615518 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... |
ORPHA:90065 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cu... |
OMIM:610651 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Ovoid vertebral bodies, Myelodysplasia, Throm... |
OMIM:260400 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Ataxia, Aggressive behavior, Unsteady gait, Hypotelorism, Recurrent infecti... |
ORPHA:96148 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, External genital hypoplasia, Abnormality of the dentition, Cryptorchid... |
OMIM:615982 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Short neck, High palate, Sparse hair, Dystrophic fingernails, Abnor... |
ORPHA:1340 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Anemic pallor, Hypergonadotropic hypogonadism, Renal ... |
OMIM:227650 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... |
OMIM:619523 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Thick lower lip vermilion,... |
ORPHA:583 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of ... |
ORPHA:530 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Acne, Cryptorchidism, Hydrocephalus, Dental mal... |
OMIM:101200 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Sepsis, Abnormal le... |
OMIM:619991 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ... |
OMIM:606054 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Prolonged QT interval, Cataract, Decreased response to growth hormone ... |
ORPHA:94089 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Preauricular pit, Umbilical hernia, Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Respiratory insufficiency, Cervical spine instability, Cutis laxa, Platyspondyly,... |
OMIM:615349 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Numerous nevi, Multiple joint contractures, Flexion contracture, Megalocornea, Abnormal vertebral... |
ORPHA:536471 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Interstitial pn... |
OMIM:620296 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Hyperconvex nail, Short neck, Thick lower lip vermilion, D... |
OMIM:157980 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Anemic pallor, Hypergonadotropic hypogonadism, Renal ... |
OMIM:600901 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Micrognathia, Thrombo... |
OMIM:259720 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Sho... |
OMIM:616268 |
Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Vesicoureteral reflux, Iris hypopigmentation, Vertebral fusion,... |
OMIM:610443 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Ataxia, Pulmonary hypoplasia |
OMIM:618174 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Reduced forced expiratory volume in one second, Kyphosis, Keratoglobus, Deeply set e... |
OMIM:108145 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abnorm... |
ORPHA:79301 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Epicanthus, Median cleft lip, Natal tooth, Hamartoma of tongue, Short neck, Splenom... |
OMIM:269860 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret... |
ORPHA:79078 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Diencephalic Syndrome |
|
Neoplasm of the nervous system, Long penis, Hydrocephalus |
ORPHA:1672 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Iris coloboma, M... |
ORPHA:2308 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Cutis laxa, Fine ha... |
OMIM:222700 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Cataract, Micrognathia, Trismus, Congestive heart failure, Recurrent pneumonia... |
OMIM:616271 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Cataract, External genital hypoplasia, Spina bifida, Hypertelorism, Flexion con... |
ORPHA:2671 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Proptos... |
ORPHA:1908 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ovaries, Recurrent infections, Hep... |
ORPHA:79240 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli... |
OMIM:614162 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, ... |
OMIM:259600 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Hepatomegaly, Pericarditis, Thin upper lip vermilion, Hypergonadotropic... |
OMIM:212065 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Portal ... |
ORPHA:1454 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... |
ORPHA:182050 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... |
OMIM:135150 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Pruritus, Splenomegaly, Chroni... |
ORPHA:71493 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... |
ORPHA:54251 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hemangioma, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Clitoral hypoplasia, Oligodontia, Absent fingern... |
OMIM:305600 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hepatomegaly, Thoracic scoliosis, Respiratory distress, Hip contracture, Shoulder ... |
OMIM:620369 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... |
OMIM:618398 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Hypertelorism, Precocious puberty, Inability to walk, Cryptorchidism, Recur... |
OMIM:615485 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Proptosis, Hypochromic anemia |
OMIM:606893 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, E... |
ORPHA:2298 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... |
OMIM:305620 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Microdontia, Vesicouret... |
ORPHA:96169 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Cataract, Telangiectasia of the skin, Decreased response to growth hormone... |
OMIM:616007 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... |
ORPHA:449563 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Conical tooth, Increased circulating... |
OMIM:300636 |
Rat-Bite Fever |
|
Back pain, Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema ... |
ORPHA:31205 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Cirrhosis, Nail dy... |
OMIM:613987 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Hypertelorism, Kyphosis, Short neck, Proptosis,... |
ORPHA:1798 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Epicanthus, Pancytopenia, Skin rash, Thin upper lip vermilion, Homocystinuria, Mega... |
OMIM:277380 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Hypospadias, Short lingual frenulum, Short uvula, Renal hypoplasia, Cleft palate, Fin... |
OMIM:614091 |
Cole-Carpenter Syndrome 2 |
|
Hypertelorism, Kyphosis, Hydrocephalus, Platyspondyly, Proptosis, Dentinogenesis imperfecta |
OMIM:616294 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Cardiomegaly, Micrognathia, Sparse hair, Megalocornea, Progressive alveolar ridge h... |
OMIM:252500 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Kyphoscoliosis, Cleft palate, Renal cyst, Horseshoe kidney, Lobulated to... |
OMIM:614815 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Ascites, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocytoma cutis, Sterile pyuria, Tu... |
ORPHA:449395 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Diffuse leiomyomatosis, Renal insufficiency, Glomerular basement membrane lam... |
OMIM:301050 |
Sengers Syndrome |
|
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, 3-Methylglutaconic acidur... |
OMIM:212350 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Camptodactyly of finger, Hypertelorism, Kyphosis, Cryptorchidis... |
ORPHA:628 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Epicanthus, Absent in utero ossification of vertebral bodies, Nep... |
OMIM:608022 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Abnormality of the dentition, Dilated cardiomy... |
OMIM:613989 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:101078 |
Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Hydrocepha... |
ORPHA:1546 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Keppen-Lubinsky Syndrome |
|
Lipodystrophy, Dyspnea, Recurrent pneumonia, Flexion contracture, Upper airway obstruction, Respi... |
ORPHA:435628 |
Urachal Cyst |
|
Abdominal mass, Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Erythema, Severe infection, ... |
ORPHA:488 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism |
ORPHA:1931 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis, Hypopituitarism, Ptosis |
ORPHA:140976 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Neurofibromatosis, Type I |
|
Hypopigmented macule, Astrocytoma, Rhabdomyosarcoma, Hypertelorism, Aqueductal stenosis, Spina bi... |
OMIM:162200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Skin tags, Preauricular pit, Bifid scrotum, Redundant neck skin, Hypospadias, Respiratory distres... |
OMIM:123790 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Widened atrophic scar, Thoracic scoliosis, Redundant skin, Kyphoscoliosis, Alopeci... |
ORPHA:536532 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Eczema, Supernumerary nipple, Highly arched eyeb... |
ORPHA:1001 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Epicanthus, Abnormal dental morphology... |
ORPHA:369950 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Camptodactyly of toe,... |
OMIM:175700 |
Focal Dermal Hypoplasia |
|
Subcutaneous nodule, Hypoplasia of the iris, Papilloma, Iris coloboma, Abnormality of the nail, M... |
ORPHA:2092 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Nephrocalcinosis, Microdontia, Vesicoureteral reflux, Micropenis, Pelv... |
OMIM:194050 |
Ellis Van Creveld Syndrome |
|
Hypospadias, Cryptorchidism, Epispadias, Acute leukemia, Aplasia/Hypoplasia of the lungs, Emphyse... |
ORPHA:289 |
Houge-Janssens Syndrome 1 |
|
Hypertelorism, Hydrocephalus, Gait ataxia, Deeply set eye, Scoliosis, Ventriculomegaly |
OMIM:616355 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dental malocclusion, High palate, Dandy-Walker malformation |
OMIM:310400 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
Overlap Myositis |
|
Abnormality of the kidney, Raynaud phenomenon, Severe infection, Arthritis, Leukopenia, Hypertens... |
ORPHA:206572 |
Fraser Syndrome 1 |
|
Dental crowding, Malformed lacrimal duct, Abnormal thymus morphology, Micropenis, Cryptophthalmos... |
OMIM:219000 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Short neck, Facial capillary hemangioma, Congenital diaphragma... |
ORPHA:818 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Hydrocephalus, Meni... |
OMIM:614424 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Microcornea, High palate, Short philtrum, Sparse hair, Clitoral hyper... |
OMIM:616449 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Numerous nevi, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal c... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Numerous nevi, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal c... |
ORPHA:363958 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Ventriculomegaly, Everted upper lip vermilion, Petechiae, Cardiomegaly, Micrognathi... |
OMIM:608013 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... |
OMIM:612714 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia, Developmental cataract |
OMIM:601815 |
Cold Agglutinin Disease |
|
Back pain, Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Splenomegaly, Lymphadenopathy,... |
ORPHA:56425 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubu... |
OMIM:251000 |
Familial Mediterranean Fever |
|
Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Meningitis, Pancreatitis, V... |
ORPHA:342 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum... |
ORPHA:1988 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Preauricular pit, Hepatomegaly, Portal hyp... |
OMIM:208540 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Microp... |
ORPHA:95699 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:167730 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Hyperconvex nail, Short neck, T... |
ORPHA:2563 |
Intellectual Developmental Disorder, Fra12A Type |
|
Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
Poems Syndrome |
|
Lymphoproliferative disorder, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Ascit... |
ORPHA:2905 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Pterygium of n... |
OMIM:224230 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Ataxia, Limb ataxia, Dysphagia, Progressive cerebellar ataxia, Proptosi... |
OMIM:109150 |
Atelosteogenesis Type I |
|
Hypertelorism, Coronal cleft vertebrae, Platyspondyly, Proptosis, Multiple renal cysts, Pulmonary... |
ORPHA:1190 |
Sitosterolemia 1 |
|
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... |
OMIM:210250 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Scoliosis, Dysphagia |
ORPHA:363717 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Astrocytoma, Sclerocornea, Cryptorchidism, Hydrocephalus, N... |
OMIM:613001 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:616835 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation... |
OMIM:617967 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me... |
ORPHA:35858 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:470 |
Arachnoid Cyst |
|
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Sev... |
ORPHA:2356 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... |
OMIM:609384 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Mediastinal ly... |
ORPHA:139411 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Neoplasm, Hypertension, ... |
ORPHA:654 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Cataract, Osteomyelitis, Tongue fasciculations, Acral ulceration |
OMIM:162400 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract... |
OMIM:118400 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Respiratory insu... |
ORPHA:352447 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Micrognathia, Renal cyst, Short philtrum, Microphallus, Compulsive behaviors, Vesi... |
OMIM:618454 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Hy... |
ORPHA:1812 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Hyperacti... |
ORPHA:48652 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Gait disturbance, Ventricu... |
ORPHA:272 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Dysphagia, Agitation, Scoliosis, Bruxism, Abnormal repetitive mannerisms |
OMIM:617435 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic liver disease, Renal insufficiency, Decreased glom... |
ORPHA:730 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria, Abno... |
ORPHA:91547 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Redundant skin, Cardiomegaly, Leiomyosarcoma, Neopla... |
ORPHA:116 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... |
ORPHA:238459 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the ve... |
ORPHA:2050 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Epicanthus, Hyperactivity, Tented upper lip vermilion, Short neck, Splenomegaly, Le... |
OMIM:615673 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Cavernous hemangioma, ... |
OMIM:616028 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... |
OMIM:617271 |
Pilomatrixoma |
|
Pruritus, Pilomatrixoma, Subcutaneous nodule, Neoplasm of head and neck |
ORPHA:91414 |
Temple Syndrome |
|
Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Cleft palate, Bifid uvula, High ... |
OMIM:616222 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Hypertelorism, Kyphosis, Unsteady gait, Deeply set eye, Scoliosis, Difficu... |
ORPHA:464282 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hypersexuality, CSF pleocytosi... |
ORPHA:217253 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Micrognathi... |
OMIM:214110 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hematuria, Short philt... |
OMIM:185070 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... |
ORPHA:1507 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Lipoatrophy, Hypertelorism, Skin nodule, Hypotelorism, Corneal stromal edema, Pr... |
OMIM:601812 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Blue irides, Iris transillu... |
ORPHA:79432 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Cardiomegaly, Hypertelorism, Dyspnea, Cutis laxa, Proptosis, Scoliosis, Her... |
ORPHA:363705 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... |
OMIM:256550 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
4Q21 Microdeletion Syndrome |
|
Short neck, Hypertelorism, Kyphosis, Self-injurious behavior, Scoliosis, Abnormal repetitive mann... |
ORPHA:238750 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,... |
OMIM:615234 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Premature loss of prim... |
ORPHA:667 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Male urethra... |
ORPHA:464738 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Multiple myeloma, Hypoten... |
ORPHA:188 |
Holoprosencephaly |
|
Hypoplasia of penis, Short neck, Abnormality of the spleen, Synophrys, Deep philtrum, Abnormal fo... |
ORPHA:2162 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Recurrent ear infections, Kyphosis, Synophrys, Broad nail, Cardiomy... |
OMIM:300280 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Developmental cataract, Ocular anterior segment dysgenesi... |
ORPHA:324416 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Osteomyelitis, Acral ulceration |
OMIM:613115 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Inguinal hernia, Redundant skin, Hypertelorism, Hydrocephalus, Lack of skin elasticity, Hypotelor... |
OMIM:612940 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Emphysema, Breast hypoplasia |
OMIM:613804 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hypermelanotic macule, Visceral angiomatosis, Hydrocephalus, Deeply set eye, Neoplasm, Nevus flam... |
ORPHA:60040 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, High palate, Abnormal dental pulp morphology, Subcutaneous neurofibroma,... |
ORPHA:363700 |
Pontocerebellar Hypoplasia, Type 3 |
|
Proptosis |
OMIM:608027 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Jaundice, Increased mean corpu... |
OMIM:194380 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Short neck |
OMIM:618821 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... |
ORPHA:887 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia... |
OMIM:603467 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr... |
OMIM:557000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shallow orbits, ... |
ORPHA:453504 |
Marshall-Smith Syndrome |
|
Hypertelorism, Proptosis, Thin skin, Scoliosis, Ventriculomegaly |
ORPHA:561 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shallow orbits, ... |
ORPHA:352665 |
Desmosterolosis |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Renal agenesis, Micrognathia, Renal hypoplasia/aplasi... |
ORPHA:35107 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Respiratory in... |
ORPHA:178148 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... |
ORPHA:73263 |
Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Farber Disease |
|
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Recurrent upp... |
ORPHA:333 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Omphalocele, Respiratory failure, Proptosis, Pulmonary hypoplasia, Ambiguou... |
OMIM:617895 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Nephrolithiasis, Arthr... |
OMIM:617321 |
Melnick-Needles Syndrome |
|
Omphalocele, Recurrent respiratory infections, Hypertelorism, Respiratory insufficiency, Proptosi... |
ORPHA:2484 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Hyperlordosis, Short neck, Dental malocclusion, ... |
OMIM:612921 |
Medulloblastoma |
|
Back pain, Ataxia, Hydrocephalus, Medulloblastoma, Spinal cord tumor, Dysmetria, Neoplasm of the ... |
ORPHA:616 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Kyphos... |
ORPHA:812 |
Hogue-Janssen Syndrome 2 |
|
Hypertelorism, Inability to walk, Hydrocephalus, Gait ataxia, Scoliosis, Ventriculomegaly |
OMIM:616362 |
Tetrasomy 5P |
|
Preauricular pit, Pericallosal lipoma, Respiratory distress, Redundant neck skin, Recurrent respi... |
ORPHA:3309 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Recurrent pneumonia, Flexion contracture, Coronal cleft vertebrae, Platyspo... |
OMIM:215150 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impai... |
OMIM:187800 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hy... |
OMIM:616084 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Opacifi... |
OMIM:205400 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Trisomy 12P |
|
Supernumerary nipple, Hypertelorism, Short neck, Aplasia/Hypoplasia of the iris, Proptosis |
ORPHA:1699 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Vaginal neoplasm, Myelodysplasia, Am... |
ORPHA:1052 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Broad-based gait, Ataxia, Hepatocellular carcinoma, Microvesi... |
OMIM:256810 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Epicanthus, Renal agenesis, Splenomegaly, Cryptorchidism, Low anterior hairline, Hy... |
OMIM:618440 |
Trisomy X |
|
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Depression, Upslanted palpebr... |
ORPHA:3375 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate... |
OMIM:135500 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... |
ORPHA:210136 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Smooth philtrum, Hepatomegaly, Neurogenic bladder, Short neck, Micrognathia, Splenomegaly, Jaundi... |
OMIM:608779 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... |
ORPHA:99843 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Apht... |
OMIM:249100 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Ascites... |
ORPHA:391673 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Erythroderma |
OMIM:113800 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Microcornea, Opacific... |
OMIM:601499 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Pallor |
ORPHA:2786 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Micrognathia, Microvesicular hepatic steatosis, Downturned corners of mouth, High pal... |
OMIM:300868 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Branchiooculofacial Syndrome |
|
Short neck, Micrognathia, Renal cyst, Postauricular pit, Premature graying of hair, Sparse hair, ... |
OMIM:113620 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Thoracic kyphosis, Aspiration pneumonia, Sha... |
OMIM:602535 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... |
OMIM:617099 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Dental malocclusion, Hepatosplenomegaly, Distal renal tubular acido... |
OMIM:259730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Left ventr... |
OMIM:613153 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Ventriculomegaly, Eczema, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Cong... |
ORPHA:96181 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Leukocoria, Pineoblastoma, Leiomyosarcoma, Melanoma, Proptosi... |
ORPHA:790 |
Multiple Sulfatase Deficiency |
|
Smooth philtrum, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Hydrocephalus, Coarse hai... |
ORPHA:585 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... |
ORPHA:85414 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease |
OMIM:214900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Fine hair, Anemia, Premature graying of hair, Intestinal bleeding, Thin s... |
OMIM:612199 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Deeply set eye, Pheochromocy... |
ORPHA:97685 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, Micro... |
ORPHA:2322 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypertelorism, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of the... |
OMIM:614195 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... |
OMIM:618268 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Int... |
OMIM:186580 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Acne, Anterior concavity of thoracic vertebrae, Ky... |
OMIM:249420 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Donnai-Barrow Syndrome |
|
Omphalocele, Cataract, Congenital diaphragmatic hernia, Hypertelorism, Hypoplasia of the iris, Pr... |
OMIM:222448 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus, Flexion contracture, Developmental cataract |
OMIM:613155 |
Schaaf-Yang Syndrome |
|
Impulsivity, Kyphosis, Inability to walk, Cryptorchidism, Flexion contracture, Hypogonadism, Scol... |
OMIM:615547 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Short neck, High, narrow ... |
ORPHA:2183 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperconvex fingernails, Coarse hair, High palate, Widely spaced teeth, Hi... |
OMIM:303600 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, E... |
ORPHA:29207 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Tooth agenesis, Vertebral s... |
ORPHA:1166 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia, Hypertelorism |
ORPHA:380 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Sotos Syndrome |
|
Astrocytoma, Flexion contracture, Neoplasm, Abnormal vertebral morphology, Hypospadias, Cryptorch... |
ORPHA:821 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Premature loss of teeth, Recurrent aspiration pneumonia, Self-mutilation, Orthostatic ... |
ORPHA:642 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Numerous nevi, Dental crowding, Downturned corners of mouth, High palate, ... |
OMIM:618371 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Synophrys, Conical incisor, Tricuspid regurgitation, Hyperlordosis, Hypocalciuria, ... |
ORPHA:73223 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly, Increased CSF lactate, Cardiomyopathy, Agitation, Ptosis |
OMIM:619046 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Agenesis of permanent teeth, Bone marrow hypocellularity, Scoliosis, Nevus, Pelvic... |
OMIM:617244 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm |
OMIM:173420 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Neu-Laxova Syndrome 2 |
|
Cataract, Spina bifida, Hypertelorism, Short neck, Proptosis, Scoliosis, Ventriculomegaly |
OMIM:616038 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Skin tags, Preauricular pit, Short neck, Hypertelorism, Hydrocephalus, Umbilical hernia, Axenfeld... |
OMIM:612582 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpho... |
ORPHA:2363 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... |
ORPHA:1427 |
Biemond Syndrome Ii |
|
Hydrocephalus, Iris coloboma |
OMIM:210350 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Upper airway obstruction, Hypoplastic labia majora, Proptosis... |
OMIM:207410 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas... |
OMIM:620192 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Dental maloccl... |
OMIM:618727 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental maloc... |
OMIM:182212 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Multicystic kidney dysplasi... |
ORPHA:2970 |
Fg Syndrome Type 1 |
|
Sacral dimple, Broad-based gait, Hypospadias, Inguinal hernia, Facial wrinkling, Hypertelorism, P... |
ORPHA:93932 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Unilateral lung agenesis, Kyphoscoliosis, Hemivertebrae... |
ORPHA:500150 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Epicanthus, Highly arched eyebrow, Short neck, Splenomegaly, Cr... |
OMIM:613563 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic a... |
ORPHA:445038 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Micrognathia, Yellow nails, Kyphosis, Cleft upper lip, Cleft palate, Distichiasis, Con... |
OMIM:153400 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... |
ORPHA:2137 |
Chops Syndrome |
|
Cataract, Hypertelorism, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Proptos... |
OMIM:616368 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Aggressive behavior, Cryptorchidism, Kyphosis, Narrow palate, Recurrent in... |
ORPHA:364028 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Anemia, Dysphagia, Bronchiolitis, Recurrent aspiration pneum... |
OMIM:230900 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia cutis congenita of scalp, Abnormal repetitive mann... |
OMIM:194190 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Chronic infection, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the... |
ORPHA:1183 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospad... |
OMIM:147791 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hydrocephalus, Hypert... |
ORPHA:2169 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Epicanthus, Paranasal sinus hypoplasia, Dental crowding, Multicystic kidney dysplasi... |
OMIM:300373 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Pulmonary... |
OMIM:614857 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Carious teeth, Skin erosion, Corneal erosion, Narrow mouth, Dilated ca... |
ORPHA:89842 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Lymphoma, Pallor |
ORPHA:90036 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Hyper... |
ORPHA:457395 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Thromb... |
ORPHA:3002 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Synophrys, Widow's peak, Hirsutism, Deep philtrum, Gingival overgrowth, Mac... |
OMIM:616455 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyopathy, A... |
OMIM:249270 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic toenails, Low anterior hairline, Downturned corners of mouth, High palate, Dandy-Walk... |
OMIM:220500 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail |
OMIM:181600 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Anorexia, First degree atrioventricular block, Cellular ur... |
ORPHA:509 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran... |
OMIM:615862 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Hypertelorism, Kyphosis, Myopic ast... |
OMIM:618443 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Cardiomyop... |
OMIM:222300 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, High, narrow palate, Abnormal coccyx morpho... |
ORPHA:314585 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Proptosis, Scoliosis |
ORPHA:1323 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Molluscoid pseu... |
OMIM:229200 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Glioma, Micrognathia, Hydrocephalus, Microglossia, Cle... |
OMIM:241800 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Neutropenia in presence... |
ORPHA:228426 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79431 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis... |
OMIM:104570 |
Diabetic Embryopathy |
|
Ureteral duplication, Micrognathia, Renal hypoplasia/aplasia, Abnormality of the pancreas, Crypto... |
ORPHA:1926 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Thrombocyt... |
OMIM:614171 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Short neck, Asplenia, Micrognathia, Ambiguo... |
OMIM:249000 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Epicanthus, Hypospadias, Decreased response to growth hormone stimulation test, ... |
ORPHA:94065 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthrit... |
OMIM:614204 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Irritability |
OMIM:618237 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Posterior embryotoxon, Dandy-Walker malf... |
OMIM:220220 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... |
OMIM:211380 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Epicanthus, Fetal ascites, Micrognathia, Splenomegaly, Cholestasis, Renal cyst, Ups... |
OMIM:261515 |
Frias Syndrome |
|
Proptosis, Hypertelorism |
OMIM:609640 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepatomegaly, Hypospadias, Increased me... |
OMIM:222470 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Short neck, Renal hypoplasia, Renal cyst, Ureteral agenes... |
OMIM:236500 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression |
ORPHA:73256 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Kleefstra Syndrome 2 |
|
Kyphosis, Self-injurious behavior, Scoliosis |
OMIM:617768 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal pigmentation, Jaundice, Nephro... |
OMIM:208085 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Micrognathia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Thin ... |
ORPHA:171839 |
Alexander Disease |
|
Ataxia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Aqueductal stenosis, Hydrocephal... |
ORPHA:58 |
Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Biliary atresia, Vesicoureteral re... |
ORPHA:96149 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis, Intervertebral space narrowing |
OMIM:614078 |
Hall-Riggs Syndrome |
|
Hypertelorism, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia |
OMIM:234250 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proptosis, Gait disturbance, Camptodactyly of finger |
ORPHA:2774 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Downslanted palpebral fissures, Th... |
OMIM:619981 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Epicanthus, Abnormality of the kidney, Micrognathia, Sparse eyebrow, Hypoplast... |
ORPHA:459061 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Hypertelorism, Hydrocephalus, Hemivertebrae, Abnormal form of ... |
ORPHA:2180 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Congestive hea... |
OMIM:235200 |
Distal Deletion 9P |
|
Hypospadias, Hypertelorism, Short neck, Hypoplastic labia majora, Proptosis, Hernia |
ORPHA:1642 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... |
OMIM:616034 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Cardiomegaly, Develo... |
OMIM:245600 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Ventriculomegaly, Cataract, Abnormality of the dentition, Arterial rupture, Downturned corners of... |
OMIM:612394 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Lathosterolosis |
|
Hepatomegaly, Epicanthus, Cataract, Hypoplasia of penis, Abnormal thoracic spine morphology, Micr... |
ORPHA:46059 |
Wyburn-Mason Syndrome |
|
Irritability, Proptosis, Epistaxis, Iris hypopigmentation |
ORPHA:53719 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis, Flexion contracture |
OMIM:618346 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hyperlordosis, Spinal rigi... |
OMIM:613327 |
Malt Lymphoma |
|
Recurrent respiratory infections, Abnormal nasolacrimal system morphology, B-cell lymphoma, Media... |
ORPHA:52417 |
Alstrom Syndrome |
|
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... |
OMIM:203800 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Narrow mouth, Gingival overgrowth, Dysphagia, Hypo... |
OMIM:230600 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Ataxia, Hyperlordosis, Gr... |
OMIM:253010 |
Dk Phocomelia Syndrome |
|
Encephalocele, Thrombocytopenia |
OMIM:223340 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Kyphosis, Hirsutism,... |
ORPHA:79329 |
Congenital Hydrocephalus |
|
Hydrocephalus, Iris coloboma, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal su... |
ORPHA:1328 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ventriculomegaly, Petechiae, Cerebral hemorrhage, Lateral ventricle dilatation, Abn... |
OMIM:617397 |
Atelis Syndrome 2 |
|
Sacral dimple, Epicanthus, Micrognathia, Diastema, Thrombocytopenia, Kyphosis, Thick lower lip ve... |
OMIM:620185 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... |
ORPHA:276241 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema... |
ORPHA:343 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Torus palatinus |
OMIM:144750 |
Melioidosis |
|
Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ... |
ORPHA:31202 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Squamous cell carcinoma, Microcornea, Premature graying of h... |
OMIM:268400 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Hypertelorism, Dilated third ventricle, Hydrocephalus, Head-ban... |
OMIM:619575 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cataract, Vaginal neoplasm, Multiple cutaneous leiomyomas, Pruritus, Esophagea... |
ORPHA:523 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cry... |
ORPHA:110 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Short... |
OMIM:229850 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Multiple joint contractures, Respiratory insufficiency due to muscl... |
OMIM:618291 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, High palate, Micropenis, Recurrent aspiration pneumonia, Abnor... |
OMIM:147920 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney, Abnormal repetitive manneri... |
ORPHA:464306 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dyspne... |
OMIM:615084 |
Meningioma |
|
Back pain, Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Neopl... |
ORPHA:2495 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism |
ORPHA:2165 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Thyroid Lymphoma |
|
Lymphoma, Lymphadenopathy, Dysphagia, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Aggressive behavior, Micrognathia, Synophrys, Noncommunicating hydroc... |
OMIM:619320 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Restrictive ventilatory defect, Sc... |
OMIM:618484 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Epistaxis |
ORPHA:327 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Recurrent pneumonia, Flexion contracture, Upper airway obstructi... |
OMIM:614098 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Hydrocephalus, Hemivertebra... |
ORPHA:85284 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Recurrent bacterial infections, Congenital hypoparathyroidism, Calvarial osteoscle... |
OMIM:244460 |
Blue Rubber Bleb Nevus |
|
Hypermelanotic macule, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hem... |
OMIM:112200 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Pruritus, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Bilateral ptosis, Thrombocytopenia, Cr... |
ORPHA:163979 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Aggressive behavior,... |
OMIM:619244 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly |
OMIM:613730 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Epicanthus, Abnormality of neutrop... |
ORPHA:2268 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mas... |
ORPHA:2126 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Myelodysplasia, Pancre... |
ORPHA:1318 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Flexion contracture, Lack of skin elasticity, Proptosis, Breast aplasia, Dermal atrophy... |
ORPHA:90153 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... |
OMIM:608612 |
Saul-Wilson Syndrome |
|
Cataract, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspondyly, Propt... |
OMIM:618150 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Asplenia, Absent frontal sinuses, Bronchiectasis, Abnorma... |
OMIM:244400 |
Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Acne, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Scoliosis, Micro... |
ORPHA:3191 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Branchiootorenal Syndrome 1 |
|
Preauricular pit, Renal dysplasia, Renal malrotation, Lacrimal duct stenosis, Unilateral renal ag... |
OMIM:113650 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low ant... |
ORPHA:193 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Inguinal hernia, Hypertelorism, Kyphosis, Asthma, Pneum... |
OMIM:619472 |
Cenani-Lenz Syndrome |
|
Cataract, Abnormal dental enamel morphology, Hypertelorism, Abnormal form of the vertebral bodies... |
ORPHA:3258 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... |
ORPHA:324636 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Developmental And Epileptic Encephalopathy 75 |
|
Prolonged neonatal jaundice, Proptosis, Hypertelorism |
OMIM:618437 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Kyphosis, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait |
OMIM:614409 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... |
ORPHA:2311 |
Yellow Fever |
|
Shock, Low back pain, Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, S... |
ORPHA:99829 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Neoplasm, Papilloma, Pterygium, Macu... |
ORPHA:910 |
Alg8-Cdg |
|
Ventriculomegaly, Cataract, Cutis laxa, Anemia, Macroglossia, Premature skin wrinkling, Ascites, ... |
ORPHA:79325 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Proptosis, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles... |
OMIM:607155 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypertelorism, Short neck, Hyposegmentation of neutrophil nuclei, Cutis laxa, Proptosis |
OMIM:614800 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Hydrocephalus, Non-midline cleft ... |
ORPHA:1335 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, ... |
OMIM:618975 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc... |
ORPHA:2785 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short neck, Kyphosis, Inability to walk, Flexion contracture, Achilles tendon co... |
OMIM:301041 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Proptosis, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of the vertebral spinous processes, Ataxia, Aggressive behavior, Myelopathy, Tendon x... |
ORPHA:909 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Lipodystrophy, Hepatic cysts, Hypertelorism, Short neck, Asthma, Abnor... |
ORPHA:79328 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary inte... |
ORPHA:35687 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... |
ORPHA:1332 |
Adams-Oliver Syndrome 2 |
|
Hypertelorism, Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Aplasia cutis... |
OMIM:614219 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Dandy-Walker mal... |
OMIM:264090 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph... |
ORPHA:2045 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Aggressive behavior, Thrombocytopenia, Cardiomyopathy, Long philtrum, Ven... |
OMIM:617710 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal dystrophy, Short neck, Micrognathia, Synophrys, Low anterior hairline, Renal cyst, Dandy-... |
ORPHA:495875 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Pannic... |
ORPHA:33577 |
1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Epicanthus, Telecanthus, Exaggerated cupid's bow, Micrognathia, Synophrys, Hydro... |
ORPHA:238769 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia |
OMIM:618107 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Hypertelorism |
ORPHA:83473 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Micrognathia, Absent eyelashes, Cryptorchidism, Renal cyst, Horseshoe k... |
ORPHA:166035 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Acne, Kyphosis, Premature loss of teeth, Gingiv... |
ORPHA:137834 |
Srd5A3-Cdg |
|
Cataract, Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair... |
ORPHA:324737 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Hypertelorism, Kyphosis, Scoliosis, Dysphagia |
ORPHA:79107 |
Mosaic Trisomy 1 |
|
Microretrognathia, Hepatic agenesis, Thoracic scoliosis, Hypoplastic thumbnail, Thick lower lip v... |
ORPHA:1692 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Hypertelorism, Kyphosis, Cryptorchidism, Ve... |
ORPHA:251014 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Thrombocytopenia, Paris-Trousseau Type |
|
Micrognathia, Thrombocytopenia, Ptosis |
OMIM:188025 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Spinal dysraphism, Capillary malformation, Scoliosis, Lipoma, Nep... |
OMIM:612918 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymp... |
ORPHA:100085 |
Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, Coarse hair, High palate, Vertebral fusion, Cryptorchi... |
OMIM:130720 |
Costello Syndrome |
|
Redundant neck skin, Short neck, Micrognathia, Fragile nails, High palate, Sparse hair, Lymphangi... |
OMIM:218040 |
Tick-Borne Encephalitis |
|
Back pain, Anorexia, CSF pleocytosis, Leukocytosis, Unusual CNS infection, Depression, Leukopenia... |
ORPHA:297 |
Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral atresia, Dandy-... |
ORPHA:564 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Proptosis, Myeloproliferative disorder, Iritis, Multiple cafe-au-... |
ORPHA:158000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospa... |
ORPHA:93111 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Micropenis, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Acne, Short neck, Micrognathia, Kyphosis, Abnormality of the tongue, Abno... |
ORPHA:3098 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Pan... |
OMIM:619183 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies,... |
OMIM:272200 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypertelorism, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Me... |
ORPHA:2479 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Visceral angiomatosis, Hydroc... |
ORPHA:3205 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Inguinal hernia, Apnea, Camptodactyly of finger, Hypertelorism, Cryp... |
ORPHA:2462 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Opportunisti... |
ORPHA:2035 |
Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Cough, Kyphosis, Abnormal respiratory system physiology, Depression, CSF ... |
ORPHA:97349 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Nevus flammeus, Cardiomegaly, Crypto... |
OMIM:130650 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Cryptorchidism, Cholestasis, Anemia, Long philtrum, Ascites, Thrombocyt... |
OMIM:608104 |
Developmental And Epileptic Encephalopathy 48 |
|
Proptosis |
OMIM:617276 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia, Downslanted palpebral fissures, Increased size ... |
OMIM:300048 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation |
OMIM:618124 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hypertrophic cardi... |
OMIM:615415 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Aortic val... |
OMIM:615382 |
Joubert Syndrome 35 |
|
Telecanthus, Recurrent urinary tract infections, Multicystic kidney dysplasia, Highly arched eyeb... |
OMIM:618161 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... |
ORPHA:276244 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Downslante... |
ORPHA:3316 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, ... |
OMIM:220210 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, C... |
OMIM:267010 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Verheij Syndrome |
|
Vertebral fusion, Thin upper lip vermilion, Renal agenesis, Short neck, Hemivertebrae, Renal hypo... |
OMIM:615583 |
Trisomy 8P |
|
Short neck, Fetal pyelectasis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbladder, Micropeni... |
ORPHA:264450 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Cataract, Cryptorchidism, Hydrocephalus, Depression, Deeply set eye, Attention d... |
ORPHA:250989 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Ectropion, Scaling skin, Dry skin, Erythroderma |
OMIM:612281 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Irritability, Organic aciduria, Elevated urinary 3-methylcrotonylglycine lev... |
OMIM:253270 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Epicanthus, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary ... |
OMIM:618541 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... |
ORPHA:160 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Iron deficiency anemi... |
ORPHA:79408 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Biconvex vertebral bodies, Coronal c... |
OMIM:184260 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Diffuse leiomyomatos... |
ORPHA:1018 |
Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Cervical lymph... |
ORPHA:324625 |
Full Schwannomatosis |
|
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... |
ORPHA:93921 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Monosomy 18Q |
|
Mandibular prognathia, Astrocytoma, Bilateral cryptorchidism, Low anterior hairline, Downturned c... |
ORPHA:1600 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... |
ORPHA:79303 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Cataract, Small scrotum, Hypertelorism, Hydrocephalus, Hypotelorism, Pleural ef... |
OMIM:617822 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Hypertelorism, Hyperlordosis, Kyphosis, Gait ataxia, Proptosis, Scol... |
OMIM:617011 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... |
OMIM:613845 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Cleft upper lip, Cleft palate, Polycystic kid... |
OMIM:613885 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Spina bifida, Kyphosis, Synophrys, Subcutaneous nodule, Er... |
ORPHA:3219 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Downturned corners of mouth... |
OMIM:619121 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, High palate, Bone marrow hypocellularity, Small nail, Neutropen... |
OMIM:614520 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Hyperthyroidism, Nonautoimmune |
|
Goiter, Hyperactivity, Proptosis, Thyroid hyperplasia |
OMIM:609152 |
Jackson-Weiss Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1540 |
Capillary Malformation-Arteriovenous Malformation |
|
Macule, Hypopigmented macule, Neurogenic bladder, Epistaxis, Facial capillary hemangioma, High-ou... |
ORPHA:137667 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Renal cyst, High palate, Vesicoureteral reflux, Lumbar hyperlordosis, Hypospadias, ... |
OMIM:616975 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Hypertension, Increased me... |
OMIM:617021 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Macrovesicular ... |
OMIM:618234 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Hypertensive crisis, Pneumonia, Nephrotic range proteinu... |
ORPHA:544482 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion... |
OMIM:255200 |
Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Numerous nevi, Cataract, Hypospadias, Allergic rhinitis, Thoracic scoliosis,... |
OMIM:176690 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Ventriculomegaly, Proteinuria, Thromb... |
ORPHA:355 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Pallor, Poik... |
OMIM:300908 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... |
ORPHA:142 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arth... |
OMIM:608654 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Hypertelorism, Abnormal form of the vertebral bodies, Proptosis, Spina bifida o... |
ORPHA:949 |
8P11.2 Deletion Syndrome |
|
Preauricular pit, Hemolytic anemia, Epicanthus, Sacral dimple, Hypoplasia of penis, Hypogonadotro... |
ORPHA:251066 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Pheochromocytoma, Pallor, Elevated uri... |
ORPHA:653 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... |
OMIM:245660 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Pulmonic ste... |
OMIM:608149 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Cryptorchidism, Kyphosis, Cleft lip, Cleft palate, Upslanted palpebral fi... |
OMIM:619123 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Pro... |
OMIM:612301 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Hypertelorism, Kyphosis, Gait ... |
ORPHA:457359 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Lumbar hyperlordosis, Hydranencephaly, Camptodactyly of finger, Spina bifida, Hydr... |
ORPHA:2839 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... |
ORPHA:75840 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocyt... |
ORPHA:94093 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Micrognathia, Subcutaneous nodule, Hamartomatous polyposis, Intra... |
ORPHA:109 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:99014 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Cryptorchidism, Proptosis, Ventriculomegaly |
OMIM:615803 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Apnea, Episodic tachypnea, Abnormal pattern of respiration, Hydrocephalus,... |
ORPHA:475 |
Centrifugal Lipodystrophy |
|
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Hydrocepha... |
ORPHA:3301 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anteri... |
OMIM:614976 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Marinesco-Sjogren Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Limb ataxia, Gait ataxia, ... |
OMIM:248800 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Downturned corn... |
ORPHA:1895 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Hypotelorism, Leukopenia, Iron deficiency anemia, Pallor, Hepatomegaly... |
OMIM:619488 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Telecanthus, Hyperlordosis, Glutaric aciduria, Congestive heart... |
ORPHA:26791 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Fused cervi... |
OMIM:612852 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia, Th... |
ORPHA:1237 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Renal agenesis, Short neck, Hy... |
OMIM:300514 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia |
OMIM:615597 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Bilateral ptosis, Cryptorchidism, ... |
ORPHA:404440 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Hematuria, Anemia, Pulmonary venous hypertension, Thrombocytopenia |
ORPHA:90060 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasi... |
OMIM:616589 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
Opitz Gbbb Syndrome |
|
Preauricular pit, Bifid scrotum, Enlarged ovaries, Ventriculomegaly, Hypospadias, Inguinal hernia... |
ORPHA:2745 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Proptosis, Tracheomalacia |
ORPHA:93259 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... |
ORPHA:31150 |
Dural Sinus Malformation |
|
Ataxia, Myelopathy, Hydrocephalus, Proptosis, Chemosis |
ORPHA:97339 |
Refsum Disease |
|
Renal insufficiency, Cataract, Heart block, Splenomegaly, Cardiomyopathy, Nail dysplasia, Dry ski... |
ORPHA:773 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Hypertelorism, Cryptorchidism, Ves... |
OMIM:201750 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Flexion contracture, Dysphagia, Stridor, Proptosis, Attention deficit hyperactivity disorder, Sha... |
OMIM:620029 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... |
ORPHA:97289 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Sclerocornea, Cryptorchidism, Hydrocephalus, Hemivertebrae, Hol... |
ORPHA:77298 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tub... |
OMIM:614922 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cleft upper lip, Cleft palate, Renal cyst, Gonadal dysgenesis, male |
OMIM:231060 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Cataract, Highly arched eyebrow, Retinal telangiectasia, Micrognathia, Hyp... |
OMIM:620157 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Infant Botulism |
|
Ptosis, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dysphagi... |
ORPHA:178478 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Meningocele, Renal cyst, Glossoptosis,... |
ORPHA:2031 |
Wilson Disease |
|
Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomeg... |
OMIM:277900 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leu... |
OMIM:620233 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Recurrent respiratory infections, Epicanthus, Dry hair, Abnormal atrioventr... |
ORPHA:576 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morpholo... |
ORPHA:3082 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypoparathyroidism, Hip contracture, Hypertelorism, Knee flexion contracture, Prop... |
OMIM:156400 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Cataract, Aggressive behavior, Hypertelorism, Kyphosis, Cryptorchid... |
ORPHA:401973 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Micrognathia, Cleft palate, Horseshoe kidney, Fused cervical vertebrae... |
ORPHA:3320 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent viral infections, ... |
ORPHA:420741 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Multiple joint contractures, Facial ... |
OMIM:305450 |
Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Hypertelorism, Short neck, Respiratory insufficiency, Abnor... |
ORPHA:2021 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Re... |
ORPHA:98863 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, Malformed... |
ORPHA:2052 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexion contracture, Cry... |
ORPHA:468631 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis |
OMIM:242500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Joubert Syndrome 7 |
|
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ptosis |
OMIM:611560 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Short neck, Upslanted palpebral fissure, Hepatic f... |
OMIM:200995 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Hydrocephalus, Sepsis, Renal tubular dysfunction, Abnor... |
OMIM:614886 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Hanac Syndrome |
|
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Micrognathia, Hydrocephalus, Renal hyp... |
OMIM:614083 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression |
ORPHA:275543 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive... |
OMIM:146510 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Scoliosis, Pulmonic stenosis, Uter... |
ORPHA:284984 |
Glucagonoma |
|
Anorexia, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Dep... |
ORPHA:97280 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Naevus flammeus of the eyelid, Abnorm... |
ORPHA:3107 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Urinary incontinence, Aggressive behavior, Micrognathia, Kyphosis, S... |
ORPHA:476126 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia... |
ORPHA:261344 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Baller-Gerold Syndrome |
|
Hypertelorism, Lymphoma, Hypotelorism, Proptosis, Scoliosis, Osteosarcoma |
ORPHA:1225 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, Sacral hypertrichosis, Scoliosi... |
ORPHA:457351 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Acanthocytosis, Cardiomegaly, Congestive heart fai... |
ORPHA:14 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Cataract |
OMIM:615191 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Hypospadias, Ankle flexion contracture, Kyphosis, Abnormal repetitive mannerisms... |
ORPHA:464311 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Deeply set eye, Hypogonadism, Spina bif... |
ORPHA:2983 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Corneal opacity, ... |
ORPHA:584 |
Fibrochondrogenesis 1 |
|
Omphalocele, Short neck, Platyspondyly, Proptosis, Camptodactyly, Megalocornea, Joint contracture... |
OMIM:228520 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Arthritis, High palate, Eczematoid dermatitis, P... |
OMIM:259100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schi... |
ORPHA:90038 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Oliver Syndrome |
|
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, Hyperconvex fingernails, High p... |
ORPHA:2920 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypertelorism, Kyphosis, Abnormal pupil morphology, Deeply set eye, Sc... |
ORPHA:236 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... |
ORPHA:1909 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Microphthalmia, Syndromic 2 |
|
Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, Dandy-Walker malfor... |
OMIM:300166 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Wide mouth, Rhinitis, Everted ... |
ORPHA:93474 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Scoliosis, Thrombocytopenia |
OMIM:616577 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Dry skin, ... |
OMIM:618535 |
Coffin-Lowry Syndrome |
|
Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hyperconvex fin... |
ORPHA:192 |
Ruvalcaba Syndrome |
|
Dental crowding, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Abnormal localization of k... |
ORPHA:3121 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Encephalocele, Hypospadias, Hyperteloris... |
ORPHA:2211 |
Hemangioblastoma |
|
Hydrocephalus, Spinal hemangioblastoma, Hemangioblastoma, Cerebellar hemangioblastoma, Retinal ca... |
ORPHA:252054 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Hypospadias, Decreased scrotal rugation, Hypertelorism, Proptosis |
ORPHA:261311 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Epicanthus, Short neck, Splenomegaly, Jaundice, Low posterior ha... |
OMIM:611881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... |
ORPHA:881 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Congest... |
OMIM:615512 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspirator... |
OMIM:207950 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... |
ORPHA:398069 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... |
OMIM:600145 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Sacral dimple, Inguinal hernia, Cryptorchidism, Proptosis, Micropenis |
ORPHA:363659 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Reduced forc... |
OMIM:613686 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hypertelorism, Hiatus herni... |
OMIM:615582 |
Zellweger Syndrome |
|
Hepatomegaly, Epicanthus, Cataract, Corneal opacity, Hypospadias, Multicystic kidney dysplasia, M... |
ORPHA:912 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ventriculomegaly, Cataract, Ureteral duplication, Renal insufficie... |
OMIM:608836 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Proptosis, Abnormal morphology of female internal genitalia |
ORPHA:1790 |
Tyshchenko Syndrome |
|
Cryptorchidism, Proptosis, Supernumerary nipple |
OMIM:615102 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Ataxia, Kyphosis, Hydrocephalus, Platyspondyly, Inapp... |
OMIM:618476 |
Familial Infantile Myoclonic Epilepsy |
|
Proptosis, Ataxia, Gait disturbance |
ORPHA:352582 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Ventriculomegaly |
ORPHA:319199 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Cataract, Hydrocephalus,... |
ORPHA:370959 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Hypercalciuria, Rena... |
OMIM:615398 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Albinism, Splenomegaly, Ocular albinism, Neutrope... |
OMIM:617050 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Facial erythema, Ecchymosis, Thin skin, Biconcave vertebral bodies, ... |
OMIM:219090 |
Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Epicanthus, Hyperactivity, Highly arched eyebrow, Aggressive be... |
OMIM:213300 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Cataract, Hypogonadism |
OMIM:601794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... |
ORPHA:228308 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, Cr... |
OMIM:241410 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory in... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory in... |
ORPHA:98853 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Micrognathia, Hydrocephalus, Bilateral renal hypoplasia... |
OMIM:243605 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Cryptorchidism, Widow's peak, Deep philtrum, Dental malocclusion, Trismus, Narr... |
OMIM:227330 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Hydrocephalus, Recurrent infections, Downturne... |
OMIM:618590 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Ventriculomegaly, Stage 3 chronic kidney disease, Bilateral ptosis, Anemia, Enuresis,... |
OMIM:619743 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Rhabdomyosarcoma, Spinal cord tumor, Spinal canal stenosis, Astigmatism,... |
ORPHA:35125 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Hematochezia, Dysphagia, Ascite... |
ORPHA:2070 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Redundant skin, Micropenis, Recurrent aspiration pneumonia, Hypertelorism, Cryptor... |
OMIM:612289 |
Fish-Eye Disease |
|
Hepatomegaly, Corneal opacity, Angina pectoris, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Sudden cardi... |
ORPHA:991 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Micrognathia, Thromboc... |
OMIM:619525 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp... |
ORPHA:2461 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis,... |
ORPHA:2414 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidis... |
OMIM:616300 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Dysphagia, Hyperechogenic kidne... |
OMIM:615636 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Petechiae, Epistaxis, Macrothrombo... |
OMIM:187900 |
Alg1-Cdg |
|
Kyphosis, Sepsis, Recurrent infections, Respiratory failure, Scoliosis |
ORPHA:79327 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendo... |
ORPHA:98855 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Apnea, Abnormal pattern of respiration, Hydrocephalus, Gait disturbance, S... |
ORPHA:220497 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Microcor... |
ORPHA:568 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimally ossified ve... |
ORPHA:66637 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Premature osteoarthritis, Atrophic scars, Scoliosis, Malar flattening |
OMIM:130060 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly,... |
OMIM:243910 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Glioma, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Posterior su... |
ORPHA:637 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta, Proptosis |
ORPHA:1185 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Cataract, Abnormality of neutrophils, Hydrocephalus, White hair... |
ORPHA:2720 |
Tetrasomy 15Q26 |
|
Kyphoscoliosis, Hypertelorism, Hydrocephalus, Camptodactyly, Dandy-Walker malformation |
OMIM:614846 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:617394 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic gait, Acral ulceration |
OMIM:256840 |
Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Hypertelorism, Short neck, Kyphosis, Cryptorchidism, Congenital con... |
OMIM:248700 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia, Hypertelorism, Hydrocephalus, Aplasia of the vagina, Aplasia of t... |
ORPHA:457284 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Nail ... |
OMIM:269500 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis, Hype... |
OMIM:619111 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Malformation of the hepatic ... |
OMIM:607361 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Recurrent respiratory infections, Conical tooth, Splenomegaly, A... |
OMIM:612132 |
Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Epicanthus, Highly arched eyebrow, Micrognathia, Asplenia, Cryptorchidism, Hyd... |
ORPHA:221120 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Ectropion, Erythroderma |
OMIM:615023 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Apnea, Abnormal pattern of respiration, Hydrocephalus, Gait disturbance, S... |
ORPHA:220493 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Hooded eyelid, Anterior pituitary hypoplasia,... |
OMIM:619841 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... |
ORPHA:30 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... |
OMIM:618278 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal repetitive mannerisms, Op... |
ORPHA:580 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Anemia, ... |
ORPHA:77261 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neoplasm of t... |
ORPHA:77293 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,... |
OMIM:211600 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of... |
OMIM:120330 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proli... |
OMIM:611134 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, S... |
ORPHA:85408 |
Camurati-Engelmann Disease |
|
Waddling gait, Reduced subcutaneous adipose tissue, Proptosis, Bone marrow hypocellularity, Scoli... |
OMIM:131300 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Crypto... |
ORPHA:3412 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned corners of ... |
ORPHA:369837 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Abnormality o... |
OMIM:276950 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Oral ulcer, Art... |
OMIM:301074 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Upslanted p... |
ORPHA:2437 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Epicanthus, Transient neutropenia, Renal cyst, Macroglossia, Thick vermilion b... |
OMIM:617107 |
Noonan Syndrome |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the spleen, Cryptorchi... |
ORPHA:648 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Cleft palate, Congenital neuroblastoma, Open mouth, Dandy-Walker malformation, Ptosis |
OMIM:147800 |
Rhombencephalosynapsis |
|
Ataxia, Hypertelorism, Hydrocephalus, Abnormality of the uterus, Ventriculomegaly |
ORPHA:59315 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Lymphangiectasis |
OMIM:602579 |
Typical Nemaline Myopathy |
|
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Respira... |
ORPHA:171436 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Cleft upper lip, Hydroc... |
OMIM:612284 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Unsteady gait, Scoliosis |
OMIM:617542 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Acne, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine l... |
ORPHA:1439 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent median palatal r... |
OMIM:300602 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Short Stature With Microcephaly And Distinctive Facies |
|
Spotty hypopigmentation, Anisopoikilocytosis, Recurrent infections, Proptosis, Anemia |
OMIM:615789 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Cataract, Ataxia, Short neck, Jaundice... |
ORPHA:168577 |
Cousin Syndrome |
|
Short neck, Hypertelorism, Hydrocephalus, Ambiguous genitalia, female, Prominent protruding coccy... |
OMIM:260660 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Displac... |
ORPHA:1556 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Cataract, Redundant neck skin, Kyphosis, Cryptorchidism, Hydrocepha... |
OMIM:300960 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Kyphosis, Respiratory insufficiency, Choreoathetosis, G... |
ORPHA:702 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Proptosis |
OMIM:619793 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Proptosis, Hypertelorism |
ORPHA:93258 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Hypoplasia of penis, Abnormality of the philtrum, Short neck, Micrognathia, Cryptorch... |
ORPHA:3409 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... |
ORPHA:64 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cataract, Progressive flexion contractures, Hypertelorism, Short neck, Cryp... |
ORPHA:3103 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... |
ORPHA:100075 |
Melnick-Needles Syndrome |
|
Omphalocele, Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphosco... |
OMIM:309350 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Hypertelorism, Kyphosis, Inability to walk, Unsteady gait, Cryptorch... |
ORPHA:3063 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... |
OMIM:300291 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Hyper... |
OMIM:268310 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental... |
ORPHA:2916 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Inflammation of the large intestine, Ascites, Lymphadenopathy |
ORPHA:26790 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ... |
ORPHA:2062 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Epicanthus, Ventriculomegaly, Microretrognathia, Microvesicular h... |
OMIM:619418 |
Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus, Osteosarcoma |
OMIM:260500 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Epicanthus, Redundant neck skin, Hypospadias, Occipital encephal... |
ORPHA:397715 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma |
OMIM:252605 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Generalized lymphadenopathy, B-cell lymphoma, Burkitt lymphoma, Vertebral compres... |
OMIM:620232 |
Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Scoliosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lym... |
ORPHA:565612 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Hypoplasia of penis, Hyperactivity, Abnormal hair pattern, Short neck, Aggressive beh... |
ORPHA:85293 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious puberty, Long penis, Recurrent ... |
ORPHA:769 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Hemat... |
ORPHA:853 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnor... |
ORPHA:44890 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis, Upper airway obstruction |
ORPHA:440354 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Apnea, Ataxia, Hydrocephalus, Tachypnea, Scoliosis, Iris coloboma |
ORPHA:2318 |
Joubert Syndrome 20 |
|
Self-mutilation, Renal cyst, Aggressive behavior |
OMIM:614970 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Eosinophilic infiltration of the e... |
OMIM:613795 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Cryptorchidism, Hydrocephalus, Hemivertebrae, Micropenis, Hypoteloris... |
OMIM:264480 |
Meester-Loeys Syndrome |
|
Ventriculomegaly, Hypertelorism, Cervical spine instability, Proptosis, Camptodactyly, Pulmonary ... |
OMIM:300989 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal... |
ORPHA:449432 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Short neck, Hydrocephalus, Hypotelorism, Colpocephaly, Congenital contracture, Ventriculomegaly |
OMIM:620156 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Inability to walk, Depression, Scoliosis, D... |
OMIM:128100 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia, Arthrogryposis multiplex congenita |
OMIM:617143 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Knee flexion contracture, Shallow orbits, Midface capillary hemangioma, Wrist flexion... |
OMIM:268300 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Scolio... |
OMIM:312750 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcificati... |
ORPHA:157 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Aqueductal stenosis, Splenomegaly, Upslanted palpebr... |
ORPHA:3035 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Hypoxemia, Restrictive vent... |
ORPHA:15 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Short neck, Spina bifida, High, na... |
OMIM:613776 |
Weaver Syndrome |
|
Inguinal hernia, Hypertelorism, Kyphosis, Cryptorchidism, Cutis laxa, Melanocytic nevus, Hydrocel... |
OMIM:277590 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... |
ORPHA:93314 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormal conj... |
ORPHA:3339 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-... |
ORPHA:79282 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Splenomegaly, Portal inflammation, Po... |
OMIM:602347 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Desbuquois Dysplasia 2 |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Platyspondyly, Proptosis |
OMIM:615777 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Hypertelorism, Respiratory insufficiency, Dysphagia |
OMIM:619909 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hypertelorism, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Polycystic k... |
OMIM:617866 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Synophrys, Fetal pyelectasis, Low anter... |
OMIM:619512 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Ectopia lentis, Short neck, Lens luxation, Hydrocephalus, Shallow orbits, Joint co... |
OMIM:224400 |
Wieacker-Wolff Syndrome |
|
U-Shaped upper lip vermilion, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Upslanted palpeb... |
OMIM:314580 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... |
ORPHA:582 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypoplastic vertebr... |
ORPHA:3455 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Gait disturbance |
OMIM:614898 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Hypertelorism, Aqueductal stenosis, Proptosis, Tracheomalacia |
ORPHA:93260 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat... |
OMIM:619849 |
Mpdu1-Cdg |
|
Eczema, Decreased response to growth hormone stimulation test, Prominent frontal sinuses, Renal c... |
ORPHA:79323 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Fetal megac... |
ORPHA:73246 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Episodic tachypnea, Hyper... |
OMIM:608091 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Flexion contracture, S... |
OMIM:615249 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Cataract, Acne, Aspartylglucosaminuria, Kyphosis,... |
OMIM:208400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Erythermalgia, Primary |
|
Pruritus, Keratoconjunctivitis sicca, Palpitations |
OMIM:133020 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Smooth philtrum, Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone ... |
OMIM:617260 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Nephr... |
OMIM:149730 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis |
OMIM:614465 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... |
OMIM:235400 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Smooth philtrum, Laterally extended eyebrow, Aggressive behavior, Synophrys, Tented philtrum, Low... |
OMIM:618479 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus, Opacification of the corne... |
OMIM:231005 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Paranasal sinus hypoplasia, Cryptorchidism,... |
OMIM:603457 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Depressi... |
OMIM:300842 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Deeply set eye, Abnormal fallopian tube morphology |
ORPHA:2189 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Recurrent infections, High palate, Neutropenia, Hyperechogenic p... |
OMIM:617941 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Thin vermilion borde... |
OMIM:602557 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Homocystinuria, Ectopia lentis, Dental malocclusion, Spherophakia, Anteri... |
OMIM:601552 |
Developmental And Epileptic Encephalopathy 80 |
|
Proptosis, Ventriculomegaly, Hypertelorism |
OMIM:618580 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis, Gingivitis |
OMIM:610455 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... |
OMIM:602400 |
Atelosteogenesis, Type I |
|
Encephalocele, Short neck, Thoracic platyspondyly, Hypertelorism, Cryptorchidism, Fused cervical ... |
OMIM:108720 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... |
OMIM:208500 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Aggressive behavior, Thrombocytopenia, Cardio... |
ORPHA:572798 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Thrombocytopen... |
OMIM:277400 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Ventriculomegaly, Micrognathia, Cryptorchidism, Synophrys, Hydrocephalus, Deep philtr... |
OMIM:614969 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Ventriculomegaly, Copper accumulation in liver, Increased CSF lactate, Anemia, Aminoaciduria, Ele... |
OMIM:614946 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:2538 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Proptosis, Scoliosis, Vertebral compression fracture, D... |
OMIM:610915 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Hydrocephalus, Joint contracture, Hydranencephaly, Pterygium, Dandy-W... |
OMIM:225790 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Epistaxis, Albinism, Impaired ADP-induced platelet aggregation, O... |
OMIM:614074 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Ectopic kidney, Short philtrum, High palate, Compulsive behaviors, Micro... |
OMIM:135900 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Epicanthus, Cataract, Transient neutropenia, Chronic neutropenia, Multicystic ... |
ORPHA:500095 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Tricuspid regurgitation... |
OMIM:612863 |
Mullegama-Klein-Martinez Syndrome |
|
Preauricular pit, Congenital diaphragmatic hernia, Unsteady gait, Proptosis, Attention deficit hy... |
OMIM:301022 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... |
OMIM:618061 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy... |
OMIM:183900 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Aymé-Gripp Syndrome |
|
Oligodontia, Shallow orbits, Megalocornea, Cryptorchidism, Scoliosis, Narrow mouth, Hydrocephalus... |
ORPHA:1272 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Protruding tongue, Cryptorchidism, Hydrocephalus, Hypoplastic toenails, Alveolar ridg... |
OMIM:612938 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Alopecia totalis, Normochromic anemia, Bradycardia, Cholelithiasis,... |
OMIM:618775 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Renal cyst, Horseshoe kidney, Thick vermilion bor... |
OMIM:250410 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Keutel Syndrome |
|
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... |
OMIM:245150 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Small nail, Malar flattening, Dow... |
OMIM:608257 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Fryns Syndrome |
|
Ventriculomegaly, Tented upper lip vermilion, Corneal opacity, Hypospadias, Median cleft lip, Sho... |
ORPHA:2059 |
Cowden Syndrome 7 |
|
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Hyperostosis Cranialis Interna |
|
Proptosis |
OMIM:144755 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Proptosis, Thin skin, Generalized lipodystrophy |
ORPHA:90154 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proliferation, Dandy... |
OMIM:603194 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Epicanthus, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary ... |
OMIM:617088 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micrognathia, Sparse eyebrow, Bilateral cleft lip and palate, Thin ... |
OMIM:618829 |
Branchioskeletogenital Syndrome |
|
Abnormality of the vertebral spinous processes, Absent nipple, Thoracolumbar kyphoscoliosis, Hype... |
ORPHA:1299 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Congenital diaphragmatic hernia, Asymmetric, line... |
OMIM:309801 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Cataract, Hypospadias, Camptodactyly of finger, Hypertelorism, Develo... |
ORPHA:90652 |
C Syndrome |
|
Hepatomegaly, Epicanthus, Accessory oral frenulum, Micrognathia, Cryptorchidism, Renal cortical c... |
OMIM:211750 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Cataract, Spina bifida, Hypertelorism, Short neck, Bifid uterus, Cryptorchidism... |
OMIM:256520 |
Meier-Gorlin Syndrome 7 |
|
Hypospadias, Cryptorchidism, Vertebral segmentation defect, Proptosis, Breast aplasia, Pulmonary ... |
OMIM:617063 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Raine Syndrome |
|
Hypertelorism, Short neck, Hydrocephalus, Proptosis, Pulmonary hypoplasia, Arthrogryposis multipl... |
OMIM:259775 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:261537 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... |
OMIM:313400 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Flexion contracture... |
ORPHA:3042 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93924 |
Marshall Syndrome |
|
Hypertelorism, Cataract, Proptosis, Ectopia lentis |
ORPHA:560 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:261552 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Cataract, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis,... |
OMIM:617988 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, ... |
ORPHA:2483 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612926 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Recurrent pneumonia... |
OMIM:618493 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Bile duct prolif... |
OMIM:611561 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, Ventriculomegaly |
OMIM:603387 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardio... |
OMIM:611126 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:2152 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Paroxysmal Hemicrania |
|
Restless legs, Palpebral edema, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Loeys-Dietz Syndrome 1 |
|
Hypertelorism, Hydrocephalus, Cervical spine instability, Proptosis, Scoliosis, Camptodactyly, Pu... |
OMIM:609192 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Short neck, Micrognathia, Mi... |
OMIM:619879 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Abnormal dental morphol... |
ORPHA:217085 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... |
ORPHA:100078 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Hypertelorism, Proptosis, Camptodactyly |
OMIM:618529 |
Acromegaly |
|
Mandibular prognathia, Synophrys, Wide penis, Osteoarthritis, Widely spaced teeth, Pituitary prol... |
ORPHA:963 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Hyperconvex nail, Hi... |
OMIM:239300 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundi... |
ORPHA:131 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Ventriculomegaly, Cryptorchidism, Hydrocephalus, ... |
ORPHA:899 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Periauricular skin pits, Orofacial cleft, Incomplete cleft... |
ORPHA:77300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Redundant skin, External genital hypoplasia, Epispadias, High, narrow pala... |
ORPHA:2658 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Cleft soft palate, Leukocytosis, Hydrocephalus, Renal hypoplasia,... |
OMIM:619321 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Abnormal dental morphol... |
ORPHA:217093 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Sex reversal, High pala... |
OMIM:114290 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion contracture,... |
OMIM:254090 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612924 |
Cerebral Visual Impairment |
|
Hydrocephalus, Unusual CNS infection, Attention deficit hyperactivity disorder, Meningitis, Infec... |
ORPHA:447788 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis |
OMIM:181405 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abno... |
ORPHA:2166 |
Poland Syndrome |
|
Encephalocele, Duplicated collecting system, Hypospadias, Short neck, Retinal hamartoma, Cryptorc... |
ORPHA:2911 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, ... |
OMIM:273395 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hypertelorism, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip... |
OMIM:618050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Spinal rigidity, Hydrocephalus, Buphthalmos, Congenital contracture, Per... |
OMIM:613150 |
Aspartylglucosaminuria |
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Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Aspartylgl... |
ORPHA:93 |
Bruck Syndrome |
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Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita... |
ORPHA:2771 |
Atrial Septal Defect, Coronary Sinus Type |
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Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Kyphosis, Depression, Agitation, Thin skin, Emotional lability, Striae distensae |
OMIM:610489 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Proptosis, Shallow orbits |
OMIM:619322 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Splenomegaly, Pancytopenia |
OMIM:614979 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Cataract, Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion cont... |
ORPHA:88628 |
Osteoglophonic Dysplasia |
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Respiratory distress, Inguinal hernia, Hypospadias, Camptodactyly of finger, Hypertelorism, Short... |
OMIM:166250 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Acral ulceration |
OMIM:201300 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconus, Epicanthus, Abnormality of the dentition, Osteoarthritis, Subcutaneous nodule, Cysto... |
ORPHA:285 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Absent nipple, Hypertelorism, Hydrocephalus, Hemivertebrae, Scoliosis, Umbilical hernia |
OMIM:104350 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... |
OMIM:611773 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Tented upper lip vermilion, Short neck, Synophrys, Hypertrophy of the urinary bladder, High palat... |
ORPHA:280633 |
Antley-Bixler Syndrome |
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Proptosis, Camptodactyly of finger, Hypertelorism |
ORPHA:83 |
Hec Syndrome |
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Communicating hydrocephalus, Abnormal pupil morphology, Vaginal hydrocele, Respiratory insufficie... |
ORPHA:2119 |
Ruvalcaba Syndrome |
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Kyphosis, Inguinal hernia, Scoliosis, Cryptorchidism |
OMIM:180870 |
Craniofacial Dyssynostosis With Short Stature |
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Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Malar flattening, Ventriculomegaly |
OMIM:218350 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Sclerocornea, Congenital diaphragmatic hernia, Epispadias, Abnormal fallopi... |
ORPHA:2556 |
Crisponi Syndrome |
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Camptodactyly of finger, Kyphosis, Flexion contracture, Respiratory insufficiency, Scoliosis |
ORPHA:1545 |
Holoprosencephaly 3 |
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Hypotelorism, Proptosis, Holoprosencephaly, Cyclopia, Ventriculomegaly |
OMIM:142945 |
Isolated Congenital Alacrima |
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Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Cataract, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoacid... |
OMIM:617913 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Kyphosis, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Trisomy 10P |
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Absent gallbladder, Epicanthus, Abnormality of the kidney, Micrognathia, Hemivertebrae, Retrognat... |
ORPHA:171929 |
Limb Body Wall Complex |
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Encephalocele, Ventral hernia, Corneal opacity, Spina bifida, Hypertelorism, Congenital diaphragm... |
ORPHA:2369 |
Achondroplasia |
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Respiratory distress, Lumbar hyperlordosis, Hydrocephalus, Upper airway obstruction, Lumbar kypho... |
OMIM:100800 |
Floating-Harbor Syndrome |
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Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum,... |
ORPHA:2044 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Pancreatic fibrosis, Tricuspid regurgitation, Hamartoma of tongue, Microglossia... |
OMIM:263520 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia |
ORPHA:3240 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Hypospadias, Repeated pneumothoraces, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, ... |
OMIM:617602 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Multiple renal cysts, Renal cyst |
OMIM:614883 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Cataract |
OMIM:615181 |
Hip Dysplasia, Beukes Type |
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Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Pruritus, Splenomegaly, Jaundice, Ra... |
OMIM:613471 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hamartoma of tongue, Short neck, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Pul... |
OMIM:616546 |
Orofaciodigital Syndrome Type 4 |
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Recurrent respiratory infections, Monorchism, Camptodactyly of finger, Hypertelorism, Perineal fi... |
ORPHA:2753 |
Pulmonary Capillary Hemangiomatosis |
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Right ventricular failure, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary ca... |
ORPHA:199241 |
Meckel Syndrome 13 |
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Occipital encephalocele, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical... |
OMIM:231680 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B... |
OMIM:618641 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Shoulder flexion contracture, Short neck, Cryptorchidism, Hydrocephalus, Flexion... |
OMIM:210710 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Pulmonary hypoplasia, Abnormal... |
OMIM:314390 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Endocrine-Cerebroosteodysplasia |
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Natal tooth, Ventriculomegaly, Small scrotum, Hypospadias, Bilateral cleft lip, Median cleft lip,... |
OMIM:612651 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Short neck, Deep philtrum, Hypoplasia of the iris, Capillary hemangioma, Microdontia, Cryptorchid... |
OMIM:619194 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro... |
ORPHA:268261 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Intraventricular hemorrhage,... |
OMIM:613603 |
Stickler Syndrome |
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Recurrent respiratory infections, Cataract, Abnormal dental enamel morphology, Ectopia lentis, Hy... |
ORPHA:828 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Short neck, Micrognathia, Synophrys, Low anterior hairline, Microcornea, Dow... |
ORPHA:199 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Elbow contracture, Camptodactyly of finger, Hypertelorism, Short neck, Cryptorch... |
OMIM:208150 |
Chromosome Xq26.3 Duplication Syndrome |
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Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... |
OMIM:300942 |
Stickler Syndrome, Type I |
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Cataract, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin seque... |
OMIM:108300 |
Hellp Syndrome |
|
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Ce... |
ORPHA:244242 |
14Q22Q23 Microdeletion Syndrome |
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Small scrotum, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Proptosis, Preauricu... |
ORPHA:264200 |
Distal 22Q11.2 Microduplication Syndrome |
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Mandibular prognathia, Micrognathia, Hypoplastic toenails, High palate, Short philtrum, Tricuspid... |
ORPHA:261337 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Proptosis, Vertebral arch anomaly |
ORPHA:85184 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Proptosis |
ORPHA:2008 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... |
OMIM:232300 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Kyphosis, Abnorma... |
ORPHA:261144 |
Distal 16P11.2 Microdeletion Syndrome |
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Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Low ant... |
ORPHA:261222 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Okamoto Syndrome |
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Omphalocele, Redundant neck skin, Hypertelorism, Bifid uterus, Splenomegaly, Astigmatism, Proptos... |
ORPHA:2729 |
Sunct Syndrome |
|
Restlessness, Palpebral edema, Facial erythema, Agitation, Conjunctival hyperemia, Ptosis |
ORPHA:57145 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Hypertension, Bronchiectasis, Lymphadenopathy |
ORPHA:79126 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Thick hair, Kyphosis, Jaundice, High, narrow palate, Hepatiti... |
ORPHA:198 |
Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia, Scoliosis |
OMIM:147750 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Fetal ascites, Splen... |
OMIM:607625 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gallbladde... |
ORPHA:349 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Thanatophoric Dysplasia, Type I |
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Neonatal respiratory distress, Short neck, Hydrocephalus, Platyspondyly, Pulmonary hypoplasia, Se... |
OMIM:187600 |
Mody |
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Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri... |
ORPHA:552 |
Micro Syndrome |
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Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Kyphosis, ... |
ORPHA:2510 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
C Syndrome |
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Sacral dimple, Epicanthus, Multicystic kidney dysplasia, Redundant skin, Abnormal hair pattern, M... |
ORPHA:1308 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petec... |
ORPHA:274 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Carious teeth, Kyphosis, Coarse hair, Scoliosis, Sparse hair |
ORPHA:1883 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Absent nipple, Renal agenesis, Kyphoscoliosis, Micrognathia, Hemivertebrae, Uterus di... |
OMIM:200980 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Upslanted palpebral fissure, Preauricular skin tag, Ao... |
ORPHA:2306 |
Loeys-Dietz Syndrome 2 |
|
Inguinal hernia, Spontaneous pneumothorax, Hypertelorism, Hydrocephalus, Joint contracture of the... |
OMIM:610168 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Cataract, Hypertelorism, Hydrocephalus, Tracheomalacia |
OMIM:620155 |
Proboscis Lateralis |
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Cataract, Corneal opacity, External genital hypoplasia, Hypertelorism, Microcornea, Proptosis, Ho... |
ORPHA:141099 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia |
OMIM:277480 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cleft palate, Attention deficit hyperactivity disorde... |
ORPHA:261197 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cataract, Spinal rigidity, Hydrocephalus, Flexion contracture, Respiratory insuffi... |
OMIM:253800 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Peho Syndrome |
|
Recurrent respiratory infections, Epicanthus, Palpebral edema, Hydrocephalus, Gingival overgrowth... |
ORPHA:2836 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... |
ORPHA:220460 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Hypoplastic labia majora, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal ar... |
OMIM:609128 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Pruritus, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral r... |
OMIM:619377 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... |
OMIM:251100 |
Somatomammotropinoma |
|
Mandibular prognathia, Synophrys, Osteoarthritis, Widely spaced teeth, Pituitary prolactin cell a... |
ORPHA:314769 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Abnormal ... |
ORPHA:958 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Block vertebrae, Renal agenesis, Cardiomegaly, Asplenia, Aqu... |
OMIM:306955 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
15Q14 Microdeletion Syndrome |
|
Acne, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philt... |
ORPHA:261190 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Cleft upper lip, Cleft palate, Scoliosis, Polycystic kidney dysplasia, Ambig... |
OMIM:613091 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Kyphoscoliosis, Knee flexion contracture, Proptosis, Minimal subcut... |
OMIM:210730 |
Yunis-Varon Syndrome |
|
Cataract, Redundant neck skin, Hypospadias, Sclerocornea, Cardiomegaly, Hypertelorism, Cryptorchi... |
ORPHA:3472 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Sho... |
OMIM:261540 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Acrofacial Dysostosis 1, Nager Type |
|
Abnormality of the cervical spine, Sparse lower eyelashes, Malar flattening, Micrognathia, Aquedu... |
OMIM:154400 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, High, narrow palate, Thick lower lip vermilion, Elevated urinary epineph... |
OMIM:162300 |
Desmosterolosis |
|
Epicanthus, Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Gingival fibromatosis, Alve... |
OMIM:602398 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Xylt1-Cdg |
|
Hepatomegaly, Proptosis |
ORPHA:370930 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Microg... |
ORPHA:85201 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellu... |
ORPHA:90062 |
Colchicine Poisoning |
|
Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, ... |
ORPHA:31824 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Nk-Cell Enteropathy |
|
Hematochezia, Increased T cell count, Lymphoproliferative disorder |
ORPHA:263665 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n... |
ORPHA:2616 |
Faciocardiomelic Syndrome |
|
Telecanthus, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Hyperplasia of th... |
OMIM:612731 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Hemivert... |
ORPHA:1780 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Absent vas deferen... |
ORPHA:586 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Cryptorchidism, Meningoence... |
OMIM:236670 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate, Micrognathia |
OMIM:181180 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Tongue thrusting, Irritability, Athetosis, Scoliosis, Bruxism, Aspiration, Abnormal rep... |
OMIM:613454 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic d... |
ORPHA:43393 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Cataract, Block vertebrae, Failure of eruption of permanent teeth, Short neck, ... |
OMIM:272460 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Proptosis, Hypospadias, Abnormal dental enamel morphology |
ORPHA:85199 |
Peters Plus Syndrome |
|
Short neck, Microcornea, Clitoral hypoplasia, Abnormal pulmonary vein morphology, Spina bifida oc... |
ORPHA:709 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Pruritus, Atretic gallbladder, Splenomegaly, Jaundice, Cholestas... |
ORPHA:30391 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Elbow contracture, Hypertelorism, Asthma, Hydrocephalus, Knee flexion contract... |
OMIM:618162 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, H... |
ORPHA:163746 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Hypertelorism, Hydrocephalus, Bifid thoracic vertebrae, Tracheom... |
ORPHA:268249 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis |
OMIM:167100 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyper... |
ORPHA:2232 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Ventriculomegaly, Thick eyebrow, Tented upper lip vermilion, Hydrocephalus, Long e... |
OMIM:617281 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Choreoacanthocytosis |
|
Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Thoracic scoliosis, Kyphoscoliosis, Inability to walk, Lateral ventricle dilatati... |
ORPHA:300570 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Abnorm... |
ORPHA:107 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Small nail, Hepatic cysts |
OMIM:263630 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Epicanthus, Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Nar... |
OMIM:605627 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Ectopia lentis, Flexion contracture, Irregula... |
OMIM:271640 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Pulmonary a... |
ORPHA:444077 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Cataract, Pulmonary hypoplasia, Proptosis |
ORPHA:50945 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis |
OMIM:300676 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... |
OMIM:254900 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Elevat... |
ORPHA:90797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Developmental cataract, Lateral ventricle d... |
OMIM:613154 |
Knobloch Syndrome |
|
Occipital encephalocele, Epicanthus, Cataract, Ectopia lentis, Abnormal hair morphology, Hydrocep... |
ORPHA:1571 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Abnormal pupil morphology, Subcutaneous nodule, Deeply set eye, Uterine rupture, ... |
ORPHA:286 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dila... |
OMIM:619534 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Colitis, Recurrent pancreatitis, Pancreatitis, Li... |
OMIM:615947 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Cataract, Hydrocephalus, Deeply set eye, Peters anomaly, Dandy-W... |
OMIM:614643 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Upslanted palpebral fissure, Hepatomegaly, Epicanthus inversus, Renal cyst |
OMIM:614862 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid carcinoma, Ve... |
OMIM:118450 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Ataxia |
ORPHA:1861 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Isolated Exencephaly |
|
Holoprosencephaly, Proptosis, Anterior pituitary hypoplasia, Posterior pituitary agenesis |
ORPHA:563612 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Cataract, Dental crowding, Anorexia... |
ORPHA:394 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Hypotelorism, Proptosis, Holoprosencephaly, Scoliosis, Cyclopia, Iris c... |
OMIM:157170 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, High palate, Short philtru... |
OMIM:617140 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Ataxia, Hydrocephalus |
ORPHA:31 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Hypertelorism, Hypoplasia of the odontoid process, Atlantoaxial instability, Recurren... |
OMIM:271665 |
Glutaric Acidemia I |
|
Choreoathetosis, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Proptosis, Hypertelorism |
OMIM:600775 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Leukonychia Totalis |
|
Abnormal fingernail morphology, Abnormal eyelash morphology, Nephrolithiasis, Adenoma sebaceum, A... |
ORPHA:2387 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Dysphagia, Ventriculomegaly |
ORPHA:25 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Hypertelorism, Short neck, Cryptorchidism, Proptosis, Scoliosis, Camptodactyly, ... |
OMIM:616145 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, M... |
OMIM:276700 |
Specc1L-Related Hypertelorism Syndrome |
|
Preauricular pit, Omphalocele, Hypertelorism, Cryptorchidism, Proptosis, Shawl scrotum, Umbilical... |
ORPHA:1519 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Kyphosis, Upslanted palpebral fissure, Vertebral seg... |
ORPHA:1005 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Hydrocephalus, Buphthalmos, Respiratory failure, Ventriculomegaly |
OMIM:616538 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Hypertelorism, Flexion contracture, Atrophic scars, Proptosis, Scoliosis |
OMIM:130070 |
Baller-Gerold Syndrome |
|
Micrognathia, High palate, Midface capillary hemangioma, Spina bifida occulta, Abnormal vertebral... |
OMIM:218600 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Redundant skin, Pelvic bone exostoses, Ureteral obstruction, Kyphosis, B... |
OMIM:304150 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Mic... |
ORPHA:570 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Cerebrocostomandibular Syndrome |
|
Epicanthus, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Ectopic kidney, Short hard... |
OMIM:117650 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Sacral dimple, Inguinal hernia, Hypertelorism, Short neck, Cryptorchidism, Hypoplastic labia majo... |
OMIM:180700 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Dysphagia, Hypopnea, Restrictive ventilatory defect, Astigmatis... |
OMIM:619482 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Oeis Complex |
|
Omphalocele, Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia... |
OMIM:258040 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Septate vagina... |
ORPHA:2237 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
Pfeiffer Syndrome |
|
Hypertelorism, Hydrocephalus, Shallow orbits |
OMIM:101600 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aggressive behavior, Kyphosis, Cryptorchidism, Subcutaneous nodule, Corn... |
OMIM:309000 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Micrognathi... |
ORPHA:1596 |
Holoprosencephaly 7 |
|
Omphalocele, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Hypotelorism, Lobar holopros... |
OMIM:610828 |
Ramon Syndrome |
|
Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,... |
OMIM:266270 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Hydrocephalus |
OMIM:300863 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, Hyd... |
OMIM:261740 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... |
OMIM:603860 |
Johanson-Blizzard Syndrome |
|
Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary teeth, Micropenis, Aplas... |
OMIM:243800 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Lymphatic Malformation 6 |
|
Epicanthus, Micrognathia, Splenomegaly, Hydrocele testis, Scoliosis, Intestinal lymphangiectasia,... |
OMIM:616843 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis |
ORPHA:88644 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Developmental cataract |
OMIM:600559 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia |
OMIM:600273 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Hydrocephalus, Wide mouth, Platyspondyly, Short philtrum |
ORPHA:163966 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... |
ORPHA:94059 |
Craniotubular Dysplasia, Ikegawa Type |
|
Hypertelorism, Increased intervertebral space, Platyspondyly, Proptosis, Mydriasis |
OMIM:619727 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Iris coloboma, Ventriculomegaly |
OMIM:615219 |
Arachnoiditis |
|
Hydrocephalus, Meningitis |
ORPHA:137817 |
Cdags Syndrome |
|
Ptosis, Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectourethral... |
OMIM:603116 |
Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Myelome... |
ORPHA:63259 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Apnea, Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:395 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Communicating hydrocephalus |
ORPHA:1064 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ... |
OMIM:259420 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Cataract, Hypoplasia of penis, Ventriculomegaly, Urethrovaginal fistula, Micrognathia... |
ORPHA:93271 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Short neck, Micrognathia, Horse... |
DECIPHER:81 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the heart, Megacystis, Sepsis |
ORPHA:2241 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Proptosis,... |
OMIM:619127 |
Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Short neck, Micrognathia, Renal cyst, Sparse hair, Bif... |
OMIM:601803 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Lens subluxation, Scoliosis |
OMIM:609008 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Dysphagia, Ventricu... |
OMIM:617527 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, Orofacial cleft, High palate, Bifid uvula, Self-mutilation, Opposition... |
OMIM:607872 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micrognathia, Short neck, High, narrow palate, Rena... |
ORPHA:3015 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertelorism |
ORPHA:2378 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Epicanthus, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Impaired oropharyng... |
ORPHA:521426 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia ... |
ORPHA:1106 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Leopard Syndrome 1 |
|
Hypospadias, Kyphoscoliosis, Hypertelorism, Short neck, Cryptorchidism, Cafe-au-lait spot, Hypopl... |
OMIM:151100 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Yellow papule, Angina pectoris, Cerebral hemorrhage, Kyphosis, High,... |
OMIM:177850 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Cryptorchidis... |
ORPHA:2636 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, High palate, Abnormal repetitive mannerisms, Hypo... |
OMIM:619325 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Hypospadias, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, High palate, Short ph... |
OMIM:609944 |
Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Absent pulmonary artery, Proptosis, Scoliosis, Vertebral compression... |
OMIM:610682 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencep... |
OMIM:313850 |
Pmm2-Cdg |
|
Mandibular prognathia, Intracranial hemorrhage, Hyperplastic labia majora, Hepatic fibrosis, High... |
ORPHA:79318 |
Fibular Hemimelia |
|
Spina bifida, Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Micrognathia, Renal cortical cysts, Downt... |
OMIM:618548 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Hernia of the abdominal wall, Anomalous pulmonary venous return |
ORPHA:2184 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthri... |
OMIM:106300 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Anencephaly, Cleft p... |
OMIM:236680 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Aggressive behavi... |
OMIM:300967 |
Neurooculorenal Syndrome |
|
Iris atrophy, Ectopic posterior pituitary, Hypoplasia of the bladder, Highly arched eyebrow, Micr... |
OMIM:620305 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Abnormality of the kidney, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, S... |
ORPHA:1724 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anorexia, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lait spots |
ORPHA:1969 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Abnormal renal collecting system morphology, Micrognath... |
OMIM:134780 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Kyphosis, Abnormal ... |
ORPHA:2769 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Lumbar ... |
OMIM:143095 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Oliguria, Dry skin, ST segment depression, Hypotension,... |
ORPHA:466650 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Hypertelorism, Scoliosis, Short neck |
ORPHA:420794 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Dif... |
ORPHA:268810 |
Primrose Syndrome |
|
Restlessness, Hip contracture, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyper... |
OMIM:259050 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Yunis-Varon Syndrome |
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Cataract, Redundant neck skin, Anterior concavity of thoracic vertebrae, Sclerocornea, Hypertelor... |
OMIM:216340 |
Otopalatodigital Syndrome, Type Ii |
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Omphalocele, Cataract, Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Hypertelorism,... |
OMIM:304120 |
Hydrocephalus, Congenital, 5, Susceptibility To |
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Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Hypertelorism |
OMIM:258850 |
Hypoplasminogenemia |
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Cervicitis, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, Abnor... |
ORPHA:722 |
Fraser Syndrome 3 |
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Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Urete... |
OMIM:617667 |
Townes-Brocks Syndrome |
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Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Subcutaneous nodule, Abnormality of the uteru... |
ORPHA:857 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
Cerebrocostomandibular Syndrome |
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Multicystic kidney dysplasia, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningocele... |
ORPHA:1393 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Omphalocele, Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Wrinkly Skin Syndrome |
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Microretrognathia, Delayed eruption of teeth, Epicanthus, Redundant skin, Short nail, Carious tee... |
OMIM:278250 |
Classic Progressive Supranuclear Palsy Syndrome |
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Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia, Impulsivity |
ORPHA:240071 |
Ventriculomegaly With Cystic Kidney Disease |
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Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp... |
OMIM:219730 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Kyphosis, Supernumerary too... |
OMIM:619718 |
Holt-Oram Syndrome |
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Kyphosis, Anomalous pulmonary venous return, Scoliosis |
ORPHA:392 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Enlarg... |
OMIM:606170 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Mckusick-Kaufman Syndrome |
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Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... |
ORPHA:2473 |
Cleidocranial Dysplasia 1 |
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Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Kyphosis, High, narrow p... |
OMIM:119600 |
Phacoanaphylactic Uveitis |
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Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Bardet-Biedl Syndrome 12 |
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Hydroureter, Abdominal mass, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadi... |
OMIM:615989 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Hydrocephalus, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea, ... |
OMIM:253280 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Absent anterior chamb... |
OMIM:259770 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Preauricular skin tag, Renal insufficiency, Systolic heart murmur, Renal cyst |
OMIM:617478 |
Klatskin Tumor |
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Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
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Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... |
ORPHA:91350 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Epicanthus, Multiple renal cysts |
OMIM:618733 |
Alkaptonuria |
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Low back pain, Vertebral fusion, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, A... |
OMIM:203500 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Thin upper lip vermilion, Epicanthus, Kyphosis, Synophrys, Bilateral ptosis, Downturned corners o... |
OMIM:619557 |
Spondyloperipheral Dysplasia |
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Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Pancreatoblastoma |
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Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocepha... |
OMIM:175780 |
Townes-Brocks Syndrome 1 |
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Preauricular pit, Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias... |
OMIM:107480 |
Osteogenesis Imperfecta, Type Iv |
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Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Isotretinoin Embryopathy-Like Syndrome |
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Hydrocephalus |
OMIM:243440 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Premature l... |
OMIM:239000 |
Mckusick-Kaufman Syndrome |
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Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... |
OMIM:236700 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Short neck, Microg... |
ORPHA:3404 |
Joubert Syndrome 5 |
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Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron... |
OMIM:610188 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria |
ORPHA:171629 |
Idiopathic Panuveitis |
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Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis |
OMIM:182210 |
Joubert Syndrome 39 |
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Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:619562 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |