Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Ollier Disease |
|
Chondrosarcoma, Micromelia, Visceral angiomatosis, Abnormal cartilage morphology, Subcutaneous no... |
ORPHA:296 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement |
ORPHA:86820 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Skin ulcer, Neoplasm of the lung... |
ORPHA:424019 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer, Squamous cell c... |
ORPHA:409 |
Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, O... |
ORPHA:2028 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... |
ORPHA:2619 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, ... |
ORPHA:93308 |
Necrobiosis Lipoidica |
|
Abnormality of the hand, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Squamous cell carci... |
ORPHA:542592 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Osteochondrosis Of The Tarsal Bone |
|
Antalgic gait, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossific... |
ORPHA:563991 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Waddling gait, Premature osteoarthritis, Hip osteoarthritis, Osteochondrit... |
OMIM:165800 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Abnormal eyelid morphology, Lymphoma, Erythema, Hypopigmented skin pat... |
ORPHA:2584 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Dermal atr... |
ORPHA:525 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ... |
ORPHA:2762 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Skin ulcer, Squamous cell carcinoma, Anal canal squa... |
ORPHA:217390 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ab... |
ORPHA:251992 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A... |
ORPHA:79493 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Abnormality ... |
ORPHA:1114 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis... |
ORPHA:166002 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Familial Keratoacanthoma |
|
Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma, Papule |
ORPHA:493 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Chilblain Lupus |
|
Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis, Finger swelling, Erythematous papule |
ORPHA:90280 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu v... |
OMIM:132400 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Waddling gait, Broad-based gait, Knee osteoarthritis, Genu varum, Osteochondritis dissecans, Flat... |
OMIM:600204 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Barrett esophagus, Intestinal pseudo-obstruction, Intestinal malrotation,... |
OMIM:619350 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Difficulty wal... |
ORPHA:564003 |
Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
Pseudoachondroplasia |
|
Joint laxity, Waddling gait, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Waddling gait, Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movemen... |
ORPHA:99642 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility, Delayed eruption of teeth |
ORPHA:63442 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiff... |
OMIM:208230 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Skin ... |
ORPHA:424016 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Conjunctival hamartoma, Skin ulcer |
ORPHA:312 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Malar flattening, Osteoarthritis, Micrognathia |
ORPHA:166100 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Werner Syndrome |
|
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Increased bone min... |
ORPHA:902 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy |
OMIM:614213 |
Blue Rubber Bleb Nevus |
|
Hypermelanotic macule, Rectal prolapse, Volvulus, Intestinal bleeding, Hemangioma, Intussusceptio... |
OMIM:112200 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... |
ORPHA:53 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Chilblain Lupus 1 |
|
Autoamputation of digits, Skin ulcer |
OMIM:610448 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Osteolysis, Skin ulcer, Neoplasm of the lung, Melanoma, Palmoplantar keratoderma, Palmo... |
ORPHA:659 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Ankle swelling, Joint stiffness, Iridocyclitis, Knee ... |
ORPHA:85408 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Osteoarthritis, Arrhythmia, Anemia |
OMIM:606069 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Acquired Ichthyosis |
|
Erythema, Lymphoma, Hyperkeratosis, Neoplasm, Palmoplantar keratoderma, Multiple myeloma, Dry ski... |
ORPHA:454 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Limited elbow extension |
OMIM:271650 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, My... |
ORPHA:48104 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Malar flattening, Premature osteoarthritis |
OMIM:184840 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum |
ORPHA:85198 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Neoplasm, High pa... |
ORPHA:235 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Hypermelanotic macule, Rectal prolapse, Clubbing, Multiple gastric poly... |
OMIM:175200 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Waddling gait, Abnormal acetabulum morphology, Antalgic gait, Joint stiffness, Osteoarthritis, Li... |
ORPHA:166011 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension |
OMIM:610947 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... |
OMIM:604416 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia, J... |
ORPHA:220402 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Small hand, Skin ulcer, Short foot, Excessive wrinkled skin, Thin... |
ORPHA:2500 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Chromomycosis |
|
Erythematous macule, Abnormal lung morphology, Subcutaneous nodule, Verrucous papule, Osteolysis,... |
ORPHA:182 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Melioidosis |
|
Shock, Foot osteomyelitis, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatitis, Acute... |
ORPHA:31202 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Arachnodactyly, Erythema, Skin ... |
ORPHA:742 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Meige Disease |
|
Skin ulcer, Angiosarcoma, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis... |
ORPHA:90186 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Osteolysis, Skin ulce... |
ORPHA:1657 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Hypopigmented skin patches, Skin ul... |
ORPHA:47 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
Junctional Epidermolysis Bullosa Inversa |
|
Localized skin lesion, Squamous cell carcinoma, Gastrointestinal inflammation, Atrophic scars, Ba... |
ORPHA:79405 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin ulcer, Malabsorption |
ORPHA:33355 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Multiple lipomas, Papi... |
OMIM:175100 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Pneumonia, Malabsorption, Skin ulcer, Clinodactyly of the 5th toe |
ORPHA:229717 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Epicanthus, Rectal prolapse, Small hand, Pulmonary lymphangiectasia, Narrow palate, Short foot, P... |
OMIM:235510 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
Sydenham Chorea |
|
Septic arthritis, Unsteady gait, Endocarditis |
ORPHA:306731 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Palmoplantar blistering, Skin erosion, Localized skin lesion, Squamous cell carcinoma, Atypical s... |
ORPHA:79410 |
Dracunculiasis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abnormal lung morphology, Erythema, Subcutaneous nodul... |
ORPHA:767 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Recurrent sinopulmonary infections, Pneumonia, Myelodysplasia... |
ORPHA:486 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Bicornuate uterus, Pulmonary hypoplasia |
OMIM:615524 |
Dyskeratosis Congenita |
|
Anorectal anomaly, Neoplasm, Skin vesicle, Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic... |
ORPHA:1775 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Craniosynostosis, Atelectasis, Lymphoma, Skin ulcer... |
ORPHA:2314 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopath... |
ORPHA:37748 |
Asbestos Intoxication |
|
Cyanosis, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Hypoxemia,... |
ORPHA:2302 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Laron Syndrome |
|
Delayed eruption of teeth, Osteoarthritis, Abnormality of the elbow, Micrognathia |
ORPHA:633 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Abnormality of the upper limb, Skin ulcer, Reduced bone mineral... |
ORPHA:834 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhyt... |
OMIM:602390 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Sandal gap, Single transverse palmar crease, Redundant skin, Atelectasis, Rectal prol... |
OMIM:613177 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... |
OMIM:263000 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Localized skin lesion, Squamous cell carcinoma, Gastrointestinal inflammation, Atrophic scars, Ba... |
ORPHA:79406 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Ectropion, Camptodactyly of finger,... |
ORPHA:2907 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Multiple eyelid margin cysts, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcino... |
OMIM:224750 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow, Palmoplantar hype... |
OMIM:602540 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Microretrognathia, Waddling gait, Phalangeal dislocation, Osteoa... |
OMIM:251450 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Osteoarthritis, Acne, Osteoporosis |
ORPHA:77296 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormality of the gastrointestinal tract, Osteomalacia, Micromelia, Camptodactyly of... |
ORPHA:2176 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Gastroesophageal reflux |
ORPHA:36386 |
Pseudoachondroplasia |
|
Joint laxity, Waddling gait, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist... |
OMIM:177170 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Atrop... |
ORPHA:79411 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Papillary thyroid carc... |
ORPHA:247806 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent pneumonia, Pyoderma gangrenosum... |
OMIM:616576 |
Cutaneous Neuroendocrine Carcinoma |
|
Erythematous macule, Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Skin nodule, B... |
ORPHA:79140 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... |
ORPHA:85435 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthr... |
ORPHA:85438 |
Perching Syndrome |
|
Cyanosis, Dysphagia |
OMIM:617055 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Stomach cancer, Esoph... |
ORPHA:79501 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... |
ORPHA:79126 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Flynn-Aird Syndrome |
|
Bone cyst, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Anorexia, Pulmonary edema |
ORPHA:330012 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... |
OMIM:620321 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pattern on pulmonary ... |
OMIM:610921 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Carcinoma, Squamous cell carcinoma, Palmoplantar keratoderma, Follicular hyperkera... |
OMIM:615225 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Skin ulcer, Abnormality of the upper limb, Nevus flammeus, Papule |
ORPHA:624 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis |
ORPHA:567544 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Autoamputation of digits, Acral ulceration, Osteolytic defects of the phalanges of the hand |
OMIM:613115 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Papill... |
ORPHA:79665 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Neoplasm, Macular purpura |
ORPHA:49566 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... |
ORPHA:69126 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Micrognathia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis,... |
OMIM:618000 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Chime Syndrome |
|
Epicanthus, Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Osteolysis, Skin ulcer, Ac... |
ORPHA:3474 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Mismatch Repair Cancer Syndrome 3 |
|
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... |
OMIM:619097 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Malabsorption, Erythema, Skin... |
ORPHA:37 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Periostitis, Skin ulcer |
ORPHA:2218 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia |
ORPHA:2141 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Pneumothorax, Anorexia |
ORPHA:1302 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Toxic Epidermal Necrolysis |
|
Macule, Recurrent respiratory infections, Gastrointestinal hemorrhage, Entropion, Abnormal pleura... |
ORPHA:537 |
Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Xerostomia, Osteolysis, Skin ulcer, Gastroesophageal reflux, Pulmonary fibrosis, D... |
ORPHA:220393 |
Sweet Syndrome |
|
Acute myeloid leukemia, Abnormality of the hand, Hematological neoplasm, Skin nodule, Pyoderma ga... |
ORPHA:3243 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of... |
ORPHA:47612 |
Cowden Syndrome 1 |
|
Skin tags, Colonic diverticula, Acrokeratosis, Fibroadenoma of the breast, Breast carcinoma, Carc... |
OMIM:158350 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Recurrent respiratory infections, Cyanosis, Choking epis... |
ORPHA:2004 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... |
ORPHA:90291 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Micrognathia, Osteoarthritis, Arthritis, Malar flattening, Joint hy... |
OMIM:108300 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture |
OMIM:616531 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture of finger, Elbow flexion contracture, Pulmonary hypoplasia |
OMIM:617194 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Leishmaniasis |
|
Skin plaque, Skin ulcer, Pallor, Papule |
ORPHA:507 |
Beta-Thalassemia |
|
Pallor, Skin ulcer, Reduced bone mineral density |
ORPHA:848 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Nevus, Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Hyperkeratosis, Hamm... |
OMIM:620189 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy |
ORPHA:42642 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Abnormality of female external geni... |
OMIM:193670 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Autoamputation of digits, Distal upper limb muscle weakness, Skin ulcer |
OMIM:613640 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Pneumothorax, Patellar hypoplasia, Hypoxemia, Abnorma... |
ORPHA:2257 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... |
ORPHA:93360 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Waddling gait, Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossifi... |
ORPHA:93314 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Vasculitis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent ... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... |
OMIM:610913 |
Chronic Granulomatous Disease |
|
Macule, Recurrent respiratory infections, Hypermelanotic macule, Malabsorption, Pyloric stenosis,... |
ORPHA:379 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Epicanthus, Subcutaneous spheroids, Phalangeal dislocation, Hiatus hernia, Piezogenic... |
ORPHA:287 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... |
ORPHA:342 |
Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arthriti... |
ORPHA:3287 |
Prolidase Deficiency |
|
Recurrent pneumonia, Skin ulcer, High palate, Petechiae, Ptosis |
OMIM:170100 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Loss of ambulation |
ORPHA:254361 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Dermatomyositis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology, Gas... |
ORPHA:221 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Keratoconjunctivitis sicca... |
ORPHA:91138 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Abnormality of the tarsal bones, Fibr... |
ORPHA:352540 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis, Spastic gait |
ORPHA:320365 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
Acute Radiation Syndrome |
|
Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Dermal atrophy, Scaling skin |
ORPHA:454831 |
Hemochromatosis, Type 3 |
|
Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Arthritis, B lymphocytopenia, Recurrent... |
ORPHA:397596 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Recurrent respiratory infections, Skin ulcer |
ORPHA:1806 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Lymphade... |
OMIM:607115 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Pulm... |
OMIM:300978 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Ataxia, Pulmonary hypoplasia |
OMIM:618174 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Lethargy, Cyanosis, Ataxia |
ORPHA:71277 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Dermal atrophy, Dry skin |
ORPHA:90342 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Neoplasm of the breast... |
ORPHA:79474 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Keratoconjunctivitis sicca, Gastroeso... |
ORPHA:779 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Micrognathia, Abnormal joint morphology, Osteoart... |
ORPHA:1427 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Redundant neck skin, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial han... |
OMIM:301056 |
Birt-Hogg-Dubé Syndrome |
|
Skin tags, Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathy... |
ORPHA:122 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Localized skin lesion, Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammati... |
ORPHA:79409 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Gastrointestinal hemorrhage, Congestive heart failure, Arthritis, Arrhythmia |
ORPHA:85446 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Ataxia, Peritonitis, Limitation of joint mobility, Vasculitis, Lymph... |
ORPHA:343 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Highly arched eyebrow, Tapered finger, Short toe, Cleft palate, Upslanted ... |
OMIM:239300 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Ptosis, Short metacarpal, Sacral dimple, Redundant neck skin, Brachydactyly, Epicanthus, Cubitus ... |
OMIM:617157 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Hypophosphatemic r... |
OMIM:307800 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Nasolacrimal duct obstruction, Skin ulcer, Melanocytic nevus, ... |
ORPHA:978 |
Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis |
OMIM:300310 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Palmoplantar keratoderma, Aplasi... |
ORPHA:50944 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Alkaptonuria |
|
Joint dislocation, Myocardial infarction, Joint stiffness, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Telecanthus, Single transverse palmar ... |
OMIM:303600 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness |
ORPHA:2485 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... |
ORPHA:922 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis, Camptodactyly of finger, Synostosis of carpal bones |
ORPHA:896 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Lactose intolerance, Lymphoma, Recurrent pneumonia, Bronchiecta... |
ORPHA:443811 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... |
OMIM:617468 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Waddling gait, Dislocation of the femoral head, Joint stiffness, Micrognathia, Flexion contractur... |
ORPHA:93307 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2526 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, P... |
OMIM:620365 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Hematemesis, Lymphoma, Chr... |
ORPHA:906 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:614096 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis, Craniosynostosis, Choking episodes |
ORPHA:137914 |
Brucellosis |
|
Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymitis, Lymphadenop... |
ORPHA:1304 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Arthritis, C... |
ORPHA:575 |
Fusariosis |
|
Lung abscess, Pneumonia, Hematological neoplasm, Hypersensitivity pneumonitis, Subcutaneous nodul... |
ORPHA:228119 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... |
ORPHA:85410 |
Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Meconium ileus, Malabsorption, Rectal prolapse, Pne... |
ORPHA:586 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Erythema, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Cyanosis |
ORPHA:2414 |
Calciphylaxis |
|
Ectopic ossification, Skin ulcer |
ORPHA:280062 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Erythema, Hypopigmented ski... |
ORPHA:464 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent respiratory infections, Brachydactyly, Bowing of the long bones, Telecanthu... |
ORPHA:955 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Delayed eruption of teeth, Ivory epiphyses of the distal phalanges of the hand, Micro... |
OMIM:190350 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout |
ORPHA:510 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage |
OMIM:616414 |
Malakoplakia |
|
Subcutaneous nodule, Skin ulcer, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon... |
ORPHA:556 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Premature osteoarthritis, Flexion contracture, Recurrent pneumonia... |
OMIM:215150 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, C... |
OMIM:278740 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Autoamputation of digits, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, G... |
OMIM:201300 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Congenital hip dislocation, Ti... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Congenital hip dislocation, Ti... |
ORPHA:98914 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Hypermelanotic macule, Squamous cell carcinoma, Palmoplantar keratod... |
OMIM:618373 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinuses, Genu valgum... |
ORPHA:560 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin, Dermal atrophy, ... |
OMIM:278700 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Broad-based gait, Ataxia, Atelectasis, Choreoathetosis, Hypoxem... |
OMIM:610978 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis |
OMIM:150550 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Skin ulcer |
ORPHA:352723 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, External genital hypoplasia, Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology... |
ORPHA:183 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Gla... |
OMIM:300219 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dysphagia, Bronchogenic cyst |
ORPHA:2357 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Osteoporosis, Skin ulcer, Reduced bone mineral density, Pallor, Hepatocellular carcinoma |
ORPHA:231222 |
Adult-Onset Still Disease |
|
Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Leukocytosis, Sp... |
ORPHA:829 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Meckel Syndrome 14 |
|
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis |
ORPHA:60041 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Genu varum |
ORPHA:93356 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis,... |
OMIM:612260 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Nevus, Rhabdomyosarcoma, Subcutaneous nodule, Hypopigmented s... |
ORPHA:626 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Splenomegaly, Dental malocclusion, Arthritis, C... |
ORPHA:61 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer |
ORPHA:86884 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... |
ORPHA:199241 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Pulmonary hypoplasia |
OMIM:191830 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis, Squamous cell carcinoma |
OMIM:613736 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Epidermoid cyst, Neoplasm of the central nervo... |
ORPHA:99818 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... |
OMIM:243150 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Cowden Syndrome |
|
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, H... |
ORPHA:201 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pal... |
ORPHA:231226 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous m... |
OMIM:278720 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopat... |
OMIM:142680 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Ataxia, Splenomegaly, Uveitis, Lymphadenopathy, Arthr... |
ORPHA:36412 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... |
ORPHA:60025 |
Giant Cell Arteritis |
|
Abnormal pleura morphology, Recurrent pharyngitis, Skin ulcer, Gastrointestinal infarctions, Glos... |
ORPHA:397 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene... |
ORPHA:93352 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Pallister-Hall-Like Syndrome |
|
Glioma, Hip dislocation, Pulmonary hypoplasia, Hypothalamic hamartoma, Micropenis |
OMIM:241800 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Recurrent respiratory infections, Abnormal morphology of female internal genitali... |
ORPHA:1839 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... |
ORPHA:158057 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Tapered finger |
OMIM:181600 |
Lyme Disease |
|
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis |
ORPHA:90038 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Raynaud phenomenon, Arthritis, Leukopenia, Hypertens... |
ORPHA:206572 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation |
ORPHA:747 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent pneumonia, Ileu... |
OMIM:219700 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o... |
ORPHA:169802 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Elevated bronchoalveolar... |
OMIM:608710 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Join... |
ORPHA:809 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Hepatitis, Joint swelling, Arthritis, Difficulty walking, Acute h... |
ORPHA:905 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Gait disturbance, Arrhy... |
ORPHA:3099 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Palpebral edema, Erythema, Skin ulcer, Pulmonary fibrosis, Dysphagia... |
ORPHA:93672 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Thrombocytopenia, Arthritis, ... |
ORPHA:448237 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis |
ORPHA:1320 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pal... |
ORPHA:231214 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Loss ... |
ORPHA:666 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Neoplasm of the skeletal syst... |
ORPHA:2396 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... |
OMIM:304790 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Williams Syndrome |
|
Osteopenia, Redundant skin, Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th fin... |
ORPHA:904 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Multiple pterygia |
OMIM:601809 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Pulmonary hypoplasia, Webbed neck |
ORPHA:1486 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Lymphadenopa... |
OMIM:617591 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pericallosal lipoma |
ORPHA:3309 |
Dravet Syndrome |
|
Impulsivity, Bradykinesia, Progressive gait ataxia, Limited knee extension, Obsessive-compulsive ... |
ORPHA:33069 |
Teebi Hypertelorism Syndrome 1 |
|
Sagittal craniosynostosis, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrot... |
OMIM:145420 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... |
OMIM:610984 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibril... |
ORPHA:284984 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swelling, Juvenil... |
ORPHA:85414 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Dysphagia, Squamous cell carcinoma, Atr... |
OMIM:226600 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of laug... |
ORPHA:391428 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema, Burkitt lymphoma, Disseminated cutaneous warts |
OMIM:618307 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Sparse eyelashes, Myelodysplasia, ... |
OMIM:305000 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... |
ORPHA:355 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ata... |
OMIM:619580 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Purpura, B-cell lymphoma,... |
ORPHA:91139 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Meconium Aspiration Syndrome |
|
Hypoxemia, Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... |
OMIM:614204 |
Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Mitral regurgitation, Congenital fing... |
OMIM:615582 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Ataxia, Portal hypertension, Raynaud phenomenon, Leukocytosis,... |
OMIM:615688 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... |
ORPHA:99956 |
Cat Eye Syndrome |
|
Preauricular pit, Epicanthus, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radiu... |
OMIM:115470 |
Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Congen... |
ORPHA:77297 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Hemangiomatosis, Skin ulcer, Erythematous plaque, Hypertr... |
ORPHA:90307 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, ... |
ORPHA:3452 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... |
ORPHA:2137 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Autoamputation of digits, Absent eyebrow, Skin nodule, L... |
ORPHA:548 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmopla... |
OMIM:610644 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypersensitivity pneumonitis, Hypoxemia, Pleural effusion, Generalized abnormality o... |
ORPHA:2902 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia, Flat acetabular roof |
OMIM:256050 |
Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Squamous cell carcinoma, Multiple cafe-au-lait spots, Skin plaque, Ve... |
ORPHA:302 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Abnormal external genitalia, Cyanosis, Bronc... |
ORPHA:1199 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, High palate, Short pha... |
ORPHA:221016 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Pulmonary artery hypoplasia, M... |
ORPHA:2326 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... |
OMIM:613390 |
Williams-Beuren Syndrome |
|
Osteopenia, Hallux valgus, Medial flaring of the eyebrow, Epicanthus, Colonic diverticula, Blepha... |
OMIM:194050 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Secondary Non-Traumatic Avascular Necrosis |
|
Difficulty walking, Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon, Skin ulcer |
OMIM:245660 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Erythema, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, N... |
OMIM:278760 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... |
ORPHA:36234 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis, Dermal atrophy, Cutaneo... |
OMIM:278750 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Gout |
OMIM:618061 |
Pilomatrixoma |
|
Pilomatrixoma, Subcutaneous nodule, Neoplasm of head and neck |
ORPHA:91414 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Portal hypertension, Joint stiffness, Splenomegaly, Congestive heart failure, Osteop... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia |
OMIM:619423 |
Livedoid Vasculopathy |
|
Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule |
ORPHA:542643 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Epidermoid cyst, Angiofibr... |
ORPHA:733 |
Matthew-Wood Syndrome |
|
Abnormality of the uterus, Cryptorchidism, Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Esophageal stricture,... |
ORPHA:2908 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Rectovaginal... |
OMIM:619708 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Intraventricular ... |
ORPHA:169805 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Atypical or... |
OMIM:277900 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Premature osteoarthritis, Hypertension, Mitral regurgitation, Camptodactyly... |
OMIM:611962 |
Leprechaunism |
|
Hyperkeratosis, Large hands, Rectal prolapse, Megarectum |
ORPHA:508 |
Primary Sjögren Syndrome |
|
Lymphoproliferative disorder, Lymphocytic interstitial pneumonia, Bronchitis, Parotitis, Lymphoma... |
ORPHA:289390 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Serkal Syndrome |
|
Abnormal penis morphology, Sex reversal, Hypospadias, Pulmonary hypoplasia |
ORPHA:139466 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Osteomalacia, Ma... |
ORPHA:534 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias, Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Akinesia, Cryptorchidism, Pulmonary hypoplasia, Pterygium |
ORPHA:994 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Cigarette-paper scars, Osteolysis, Hypopigmente... |
ORPHA:678 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Uterus didelphys, Hip dislocation, Bicornuate uterus, Pulmonary hypoplasia |
ORPHA:958 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Short phalanx of finge... |
ORPHA:221008 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... |
OMIM:619510 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Polycystic o... |
ORPHA:2298 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Aicardi Syndrome |
|
Skin tags, Proximal placement of thumb, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, ... |
OMIM:304050 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Ataxia, Retro... |
ORPHA:117 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis |
ORPHA:621 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Hypoplasia of the ut... |
OMIM:601186 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decre... |
ORPHA:1855 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Ataxia, Gout |
ORPHA:411543 |
Rheumatoid Arthritis |
|
Joint stiffness, Vasculitis, Joint swelling, Polyarticular arthritis, Rheumatoid arthritis |
OMIM:180300 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Esophageal stricture, Erythema, Pneumothorax, Intermittent generalized ery... |
ORPHA:99921 |
Dyskeratosis Congenita, Digenic |
|
Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis, Melanoma, Basal cell carcino... |
OMIM:620040 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Elevated circulating growth hormone concentration, Osteoarthrit... |
ORPHA:314769 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Pulmonary hypoplasia, Webbed neck,... |
OMIM:618316 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co... |
ORPHA:99889 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... |
ORPHA:244 |
Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pust... |
ORPHA:247353 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Partial anomalous pulmonary venous return, Cardiac to... |
OMIM:608978 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis |
OMIM:619825 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:860 |
Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess, Skin ulcer |
OMIM:116920 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Akinesia, Multiple pterygia, Pulmonary hypoplasia |
OMIM:253290 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Micrognathia, Hypoplas... |
ORPHA:828 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Genu valgum, Gait disturbance, Gait imbalance, Difficulty walking,... |
ORPHA:488627 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Bruising susceptibility, Decreased testicular siz... |
ORPHA:335 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Microgastria, Hiatus... |
ORPHA:2538 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Acne, Elevated circulating growth hormone concentration, Osteoa... |
ORPHA:963 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Micropenis, Pulmonary hypoplasia, Webbed neck, Wormian bones, Pleural effusion |
OMIM:616897 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage |
ORPHA:2038 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bron... |
OMIM:244400 |
Paraneoplastic Pemphigus |
|
Skin erosion, B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Elevated circulating growth hormone concentrati... |
ORPHA:2796 |
Tarp Syndrome |
|
Broad-based gait, Cyanosis, Cryptorchidism, Pulmonary hypoplasia, Widely patent fontanelles and s... |
ORPHA:2886 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Caudal Regression Syndrome |
|
Impulsivity, Cryptorchidism, Pulmonary hypoplasia, Ambiguous genitalia, Abnormal vertebral segmen... |
ORPHA:3027 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Genu recurvatum, Flat acetabular roof, Delayed ossification of ... |
OMIM:184260 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Respiratory tract infection, Subcutaneous nodule, Skin ulcer, Conjunctival hyperemia, ... |
ORPHA:68 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Trichiasis, Acantholysis, Pneumonia, Oral-pharyngeal dysphagia, Intestinal perforat... |
ORPHA:95455 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... |
ORPHA:449280 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Raynaud phenomenon, Lymphadenopathy, Arthri... |
ORPHA:93552 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Cryptorchidism, Pterygium, Pulmonary hypoplasia |
OMIM:224410 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Intraventricular hem... |
ORPHA:420741 |
Kid Syndrome |
|
Sparse eyelashes, Equinus calcaneus, Coxa valga, Scarring alopecia of scalp, Skin nodule, Posteri... |
ORPHA:477 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Recurrent ... |
ORPHA:900 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... |
ORPHA:95430 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Cyanosis, Ataxia, Pulmonary edema |
ORPHA:31826 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation, Malar flattening |
OMIM:184100 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Emphysema, Pulmonary carcinoid tumor, Papillary renal cell carc... |
ORPHA:363618 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary... |
ORPHA:86822 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Abnormal joint morphology, Hypoplasia of the uterus, Hypoplasia of the o... |
ORPHA:3130 |
Kniest Dysplasia |
|
Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, Bilateral ptosis, De... |
ORPHA:485 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Dysphagia |
OMIM:150260 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Immunoglobulin A Vasculitis |
|
Macule, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Gastrointestinal infarctions, Purpura |
ORPHA:761 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Pulmonary hy... |
OMIM:271520 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Pulmonary hypoplasia, Multiple pterygia |
OMIM:312150 |
Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Flexion contracture, Vasculitis, Abnormal facial skeleton morpholo... |
ORPHA:90289 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Pulmonary hypoplasia |
ORPHA:2655 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:3426 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Esophageal varix, Abnormal pulmonary interstitial morphology, Skin ulcer, Gastric ... |
ORPHA:2072 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the elbow, Uterus didelphys, Abnormality of the wrist |
ORPHA:2491 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Gait disturbance, Acrocyanosis |
ORPHA:1764 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Multiple pterygia, Cryptorchidism, A... |
ORPHA:2990 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Arthritis, Recurrent skin infections |
ORPHA:36397 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ... |
OMIM:250790 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Atelectasis,... |
ORPHA:538 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypoplasia |
ORPHA:250999 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Genu recurvatum, Protrusio acetabuli, Micrognathia... |
OMIM:154700 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fi... |
ORPHA:79430 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Abnormal cartilage morphology, Flared metaphysis, Abnormal ... |
ORPHA:2347 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout... |
OMIM:232800 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Pulmonary artery stenosis, Sex reversal, Bilateral lung agenesis, Congeni... |
OMIM:611812 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Dysphagia |
OMIM:207950 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Attention deficit hyperactivity disorder, Myelodysplasia, Hypoplasia of t... |
OMIM:619151 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Polycystic ovaries, Cyanosis, Pulmonary edema |
ORPHA:137675 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Craniosynostosis, Erythema, Atrophic scars, Palmoplant... |
ORPHA:79396 |
Carney Complex |
|
Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Hepatocellular carcinoma, Thyroi... |
ORPHA:1359 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... |
ORPHA:3260 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Pulmonary hypoplasia |
OMIM:617895 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Cryptorchidism, Patellar aplasia, Knee flexion contracture, Radio... |
ORPHA:85201 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Hyperkeratosis, Pulmonary hypoplasia, Dysphagia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Skin erosion, Esophageal stricture, Dysphagia, Squamous cell c... |
ORPHA:89842 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Bronchiectasis, Ute... |
OMIM:123700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Sparse eyelashes, Absent eyelashes, Short thumb, Sparse eyebrow, Oste... |
OMIM:268400 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Squamous cell carcinoma, Blepharophimosis, C... |
OMIM:613951 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Plague |
|
Hematemesis, Localized skin lesion, Abnormality of the elbow, Enterocolitis, Skin ulcer, Acute in... |
ORPHA:707 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Cubitus valgus, Cryptorchidism, Unsteady gait, Prolonged neonatal jaundice, Pulmonar... |
OMIM:214100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ataxia, Myelodysplasia, Premature graying of hair, Interstitial pneumonitis, Squamous cell carcin... |
OMIM:127550 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Bilateral cryptorchidism, Respiratory infections in early life, Chordee, Pulmonary h... |
ORPHA:96179 |
Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Limitation of joint mobility, Temporomandibular joint ankylosis, Abnormal epiphysea... |
ORPHA:580 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthriti... |
ORPHA:29207 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Raynaud phenome... |
ORPHA:324625 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal p... |
OMIM:309800 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Atrial fibrillation, Protrusio acetabuli, Eosinophilic infiltration of the esophagu... |
OMIM:613795 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Dysplastic patella, Patell... |
OMIM:265000 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Radioulnar synostosis, Pulmonary hypoplasia, Micropenis, Joint contr... |
OMIM:248700 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Squamous cell carcinoma,... |
OMIM:148210 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Osteoporosis, Skin ulcer, Thin skin, Ecchymosis, Striae dis... |
ORPHA:96253 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Dermal atrophy, Calcification of car... |
ORPHA:85202 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis, Limited elbow flexion/extension, Clito... |
OMIM:164745 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanocytic nevus |
ORPHA:79434 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Camptodactyly of finger, Erythema, Xerostomia, Skin ulcer, Abnor... |
ORPHA:90340 |
Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Pulmonary hypoplasia, Genu varum |
ORPHA:85166 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Webbed neck |
OMIM:617478 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu varum, Finger... |
ORPHA:2753 |
Poems Syndrome |
|
Lymphoproliferative disorder, Hypogonadism, Hemangioma, Pleural effusion, Acrocyanosis |
ORPHA:2905 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Dry skin |
ORPHA:220295 |
Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovag... |
OMIM:236700 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Splenomegaly, Abnormality of the para... |
ORPHA:2969 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Prominent metopic ridge, Hypospadias, Aggressive behavior, Cryptorc... |
OMIM:619148 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ... |
ORPHA:2556 |
Kniest Dysplasia |
|
Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared metaphysis, Coxa v... |
OMIM:156550 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia, Dysphagia |
OMIM:616866 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Widely patent fontanelles and sutures |
OMIM:267430 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia |
OMIM:614407 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Vasculitis, Hepatit... |
ORPHA:2331 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphaden... |
OMIM:260920 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative colitis,... |
ORPHA:810 |
Perrault Syndrome 4 |
|
Gait ataxia, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary, Cubitus valgus |
OMIM:615300 |
Pagod Syndrome |
|
Abnormal morphology of female internal genitalia, Agonadism, Pulmonary artery hypoplasia, Abnorma... |
ORPHA:991 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Pulmonary hypopl... |
ORPHA:980 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous me... |
OMIM:610651 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy... |
OMIM:300755 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Cyanosis, Ganglioneuroblastoma, Aggressive behavior, Recurrent upper respiratory trac... |
ORPHA:293987 |
Farber Disease |
|
Abnormality of the knee, Thrombocytopenia, Flexion contracture, Osteoporosis, Abnormality of the ... |
ORPHA:333 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:555874 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Recurrent pneumonia, Cyanosis |
ORPHA:1329 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent pneumon... |
OMIM:243700 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Squamous cell carcinoma, Hyperkeratosis, Keratoconjunctivi... |
OMIM:601675 |
Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... |
ORPHA:141127 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... |
OMIM:619381 |
Renal Agenesis, Bilateral |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia |
ORPHA:1848 |
Acrorenal-Mandibular Syndrome |
|
Hip dislocation, Uterus didelphys, Elbow flexion contracture, Bicornuate uterus, Pulmonary hypopl... |
OMIM:200980 |
Renal Agenesis |
|
Absent vas deferens, Pulmonary hypoplasia, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Craniosynostosis, Hydrocele testis, Pulmonary hypoplasia, Nephroblas... |
ORPHA:314588 |
Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Ataxia, Pustule, Myocarditis, Peritonitis, Co... |
ORPHA:533 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Poor wound healing, Ambiguous genitalia, female, Bicornuate uterus, Joint subluxation, Bruising s... |
OMIM:606408 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Autoamputation of digits, Acral ulceration |
OMIM:256800 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Neuropathic arthropathy |
OMIM:223900 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai... |
OMIM:615846 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Lymphadenop... |
ORPHA:536 |
Oculocutaneous Albinism Type 2 |
|
White eyelashes, White eyebrow, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutane... |
ORPHA:79432 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Acetabular spurs, Pulmonary hypoplasia |
OMIM:615503 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Septate vagina, Hamartoma of tongue, Uterus didelphys, Pulmonary hypoplasia, Neonatal death, Micr... |
OMIM:617925 |
Laryngotracheal Angioma |
|
Cyanosis, Facial hemangioma |
ORPHA:137935 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechia... |
OMIM:225750 |
Fryns Syndrome |
|
Cryptorchidism, Bicornuate uterus, Hypospadias, Pulmonary hypoplasia |
ORPHA:2059 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:187600 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Bilate... |
ORPHA:90797 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Abnormal carpal morphology, Madelung deformity |
OMIM:614851 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Cyanosis |
ORPHA:3304 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Erythema nodosum, Abnormality of... |
ORPHA:228123 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Focal... |
OMIM:616433 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Pulmonary hypoplasia, Flat acetabular roof |
OMIM:614091 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia, Flat acetabular roof |
OMIM:151210 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Orchitis, Arthritis, Vasculitis in the sk... |
ORPHA:48435 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Jaundice, Pulmonary hypoplasia |
OMIM:231680 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Elbow dislocation, Pulmonary hypoplasia, Abnormality of female external genitalia, Vaginal fistul... |
ORPHA:1112 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Respiratory tract infectio... |
ORPHA:2968 |
Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, C... |
OMIM:278730 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Knee flexion c... |
OMIM:601559 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Repeated pneumothoraces, Large joint dislocations, Craniosynostosis, Phalangeal d... |
ORPHA:536467 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Pulmonary artery stenosis, Cyanosis |
ORPHA:3427 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia |
OMIM:202650 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Septate vagina, Craniosynostosis, Bicornuate uterus, Rectov... |
OMIM:300707 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Recurrent lower respiratory tract infections, Cyanosis, Ataxia |
OMIM:618426 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Pulmonary hypoplasia, Webbed neck |
OMIM:608022 |
Split Cord Malformation |
|
Talipes cavus equinovarus, Penetrating foot ulcers, Spinal cord tumor, Skin dimple, Capillary hem... |
ORPHA:573278 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Prominent metopic ridge, Hypospadias, Craniosynostosis, Cryptorc... |
ORPHA:2745 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Cyanosis, Pulmonary edema |
OMIM:261740 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis |
ORPHA:99106 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Pterygium, Pulmonary hypoplasia |
ORPHA:1865 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Pulmonary hypoplasia |
OMIM:612530 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Cryptorchidism, Flat acetabular roof, Stillbirth, Pulmonary hypoplasia, Ambi... |
OMIM:616300 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Lymphatic Filariasis |
|
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... |
ORPHA:2035 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Humeroradial synostosis, Pulmonary hypoplasia, Craniosynostosis |
OMIM:251230 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Pulmonary hypoplasia, Pulmonary artery atresi... |
ORPHA:1692 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Recurrent otitis media, Macrodontia of... |
OMIM:154780 |
Microsporidiosis |
|
Pneumonia, Bronchitis, Anorexia, Abnormal endometrium morphology, Abnormal fallopian tube morphol... |
ORPHA:2552 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Fa... |
OMIM:270400 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Hip dislocation, Pulmonary hypoplasia, Abnormal fallopian tube morphology |
ORPHA:3412 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Ataxia, Abnormal T cell subset distribution, Arthritis, B ly... |
ORPHA:221139 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Congenital hip dislocation, Erythema, Hyperkeratosis, Stillbirth, Pulmonary hypopl... |
OMIM:308050 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Anal stenosis, Proportionate shortening of all digits, Tapered finger, Hyperpigmented... |
ORPHA:280633 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Osteoporosis, Gout, Hypertension, Inflammation of the large in... |
OMIM:232220 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Ataxia, Petechiae |
OMIM:602473 |
Bloom Syndrome |
|
Syndactyly, Lymphoma, Recurrent upper respiratory tract infections, Spotty hypopigmentation, Bron... |
OMIM:210900 |
Chand Syndrome |
|
Atelectasis, Ataxia, Imperforate hymen |
ORPHA:1401 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Gout, Tubulointerstitial nephritis, Hypertension, Hypotension, Anemia |
OMIM:174000 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... |
OMIM:615067 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Atelosteogenesis Type I |
|
Joint dislocation, Pulmonary hypoplasia |
ORPHA:1190 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Atelectasis, Neonatal death, Pulmonary hypoplasia, Ambiguous genitalia |
OMIM:269860 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Genu valgum |
OMIM:600705 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth,... |
OMIM:256520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Congenital hip dislocation, Cyanosis, Block vertebrae, Total anomalous p... |
OMIM:306955 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... |
ORPHA:185 |
Fryns Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbirth, Chylothorax, Pulmonary... |
OMIM:229850 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive ... |
ORPHA:353281 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the ... |
OMIM:154230 |
Alg9-Cdg |
|
Prominent metopic ridge, Abnormal lung lobation, Bicornuate uterus, Hypoplasia of the ovary, Pulm... |
ORPHA:79328 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Atelectasis, Recurrent lower respiratory tract infections, Dysphagia |
ORPHA:258 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Chronic neutropenia, Epistaxis, Carious teeth, Osteoporosis, Enterocolitis, Gout, Inc... |
ORPHA:79259 |
Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Maculo... |
ORPHA:99826 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Pulmonary artery stenosis, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Prominent scalp veins, Subluxation of the small joints of the hand, Sagittal c... |
ORPHA:536471 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Pulmonary hypoplasia,... |
ORPHA:90652 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Oligomeganephronia |
|
Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Atopic Keratoconjunctivitis |
|
Keratitis, Keratoconjunctivitis sicca, Blepharitis, Corneal neovascularization |
ORPHA:163934 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cyanosis |
ORPHA:159 |
Lujo Hemorrhagic Fever |
|
Purpura, Atelectasis, Ecchymosis, Dysphagia |
ORPHA:319213 |
Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia |
OMIM:608149 |
Meier-Gorlin Syndrome 7 |
|
Hypospadias, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Cryp... |
OMIM:617063 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... |
OMIM:233450 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Abnormal lung lobation, Stillbirth, Abnormal vagina morphology |
OMIM:236680 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... |
OMIM:610655 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Autoamputation of digits, Acral ulceration, Hepatocellular carcinoma |
OMIM:256810 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Unilateral cryptorchidism, Cryptorchidism, Partial anomalous ... |
OMIM:618280 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pneumonia |
ORPHA:99103 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of ... |
OMIM:232240 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Abnormal lung ... |
OMIM:265380 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Elbow flexion contracture, Pulmonary hypoplasia, Pleural effusion |
OMIM:620369 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227990 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Hypogonadism, Pulmonary hypoplasia, Ambiguous genitalia, Pterygium |
ORPHA:2671 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Anal fissure, Osteoporosis, Dysphagia, Squamous cell carcinoma, Gastrointestinal infl... |
ORPHA:79408 |
Pitt-Hopkins Syndrome |
|
Ataxia, Aggressive behavior, Cryptorchidism, Hodgkin lymphoma, Gait ataxia, Self-injurious behavi... |
ORPHA:2896 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Tetrasomy 9P |
|
Joint dislocation, Hyperactivity, Pilomatrixoma, Cryptorchidism, Jaundice, Oligozoospermia, Arthr... |
ORPHA:3310 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Peripheral pulmonary vessel aplasia,... |
OMIM:273395 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Choreoathetosis, Pulmonary hypoplasia, Hydrocele testis |
OMIM:614080 |
Achondroplasia |
|
Limited elbow extension, Pulmonary hypoplasia, Genu varum |
OMIM:100800 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Cryptophthalmos, Anal atresia |
OMIM:617666 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Telangiectasia of the skin, Transient ischemic att... |
ORPHA:286 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Hypospadias, Cutis marmorata, Facial capillary hemangioma, Cryptorchidism, A... |
ORPHA:818 |
Atelosteogenesis Type Ii |
|
Elbow dislocation, Facial midline hemangioma, Elbow flexion contracture, Genu valgum, Pulmonary h... |
ORPHA:56304 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal lung lobation, Bicornua... |
ORPHA:2052 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Pentalogy Of Cantrell |
|
Hypospadias, Pulmonary hypoplasia |
ORPHA:1335 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Jaundice, Papillary cystadenoma of the epididymis, Arthritis, R... |
ORPHA:93111 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Hypospadias, Pulmonary hypoplasia |
ORPHA:1708 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... |
OMIM:187300 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud ... |
ORPHA:51 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Inability to walk, Difficulty walking, Dysphagia |
ORPHA:365 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... |
OMIM:600376 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Congenital hip dislocation, Enlarged labia minora, Cryptorchidism... |
OMIM:606170 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Hypertensive crisis, Acne, Abnormal dental ename... |
ORPHA:567 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Antecubital pterygium, Vaginal atresia |
OMIM:616258 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopathy, Splenomega... |
OMIM:181000 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Angina pectoris, Gout |
ORPHA:412 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labia majora, A... |
ORPHA:83628 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Loss of eyela... |
ORPHA:79277 |
Joubert Syndrome 21 |
|
Ataxia, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Myeloid leukemia, Streak ovary, Hypospadias, Wormian bones, Recurrent pn... |
ORPHA:798 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hypospadias, Cutis marmorata, Aggressive behavior, Aplasia/Hypo... |
OMIM:135900 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pr... |
ORPHA:358 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Myasthenia Gravis |
|
Acrocyanosis, Rheumatoid arthritis, Dysphagia |
ORPHA:589 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy, Cyanosis, Ataxia, Hypospadias |
OMIM:252010 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:616546 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:642 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Gastroesophageal reflux, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrix... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Gastroesophageal reflux, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrix... |
ORPHA:353277 |
Thoracoabdominal Syndrome |
|
Hypospadias, Pulmonary hypoplasia |
OMIM:313850 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus, Synostosis of carpal bones |
ORPHA:2438 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Cryptorchidism, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Webbed ... |
OMIM:620025 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:263520 |
Distal Deletion 15Q |
|
Hypospadias, Cryptorchidism, Hip dislocation, Genu valgum, Pulmonary hypoplasia, Attention defici... |
ORPHA:1596 |
Glycogen Storage Disease Ia |
|
Hypertension, Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
Fucosidosis |
|
Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality |
ORPHA:349 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abs... |
OMIM:601495 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Temporo... |
ORPHA:217085 |
Ogden Syndrome |
|
Prominent metopic ridge, Congenital hip dislocation, Prematurely aged appearance, Delayed cranial... |
OMIM:300855 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Hypospadias, Epidermal hyperkeratosis, Stillbirth, Pulmonary... |
OMIM:275210 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Small scrotum, Prematurely aged... |
OMIM:612289 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Craniosynostosis, Webbed neck |
ORPHA:1521 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... |
ORPHA:86309 |
Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Bicornuate uterus, Pulmonary hypoplasia, Micropenis, Vaginal atresia... |
OMIM:219000 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Temporo... |
ORPHA:217093 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Delayed ossification of carpal bones, Long... |
OMIM:140000 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Camptodactyly of finger, Cryptorchidism, Ambiguous genitalia, female... |
OMIM:249000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Carpal synostosis, Hypergonadotropic hypogonadism, Tarsal synostosis |
OMIM:609441 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal ... |
ORPHA:436252 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Wormian bones, Hypoplastic labia minora, Met... |
OMIM:269150 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Jaundice, Pulmonary hypoplasia |
OMIM:208500 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Attention deficit hyperactivity disorder, Webbed neck |
OMIM:614083 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Camptodactyly of finger, Cryptorchidism, Wrist flexion contracture, Stillbirth, ... |
OMIM:208150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis |
OMIM:618278 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cryptorchidism, Ataxia, Gout |
OMIM:300661 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Sacral lipoma, Bilateral talipes equinovarus, Dermoid cyst |
OMIM:600145 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Abnormal fingertip morphology, Skin erosion, Esophageal stricture, Pneumothorax, Osteo... |
ORPHA:79404 |
Lethal Congenital Contracture Syndrome 9 |
|
Antecubital pterygium, Pulmonary hypoplasia, Joint contracture of the hand, Wrist flexion contrac... |
OMIM:616503 |
Oeis Complex |
|
Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female... |
OMIM:258040 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Raine Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:259775 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Micromelia, Bowing of the legs, Metatarsus adductus, Recurrent pneumonia, Flare... |
OMIM:271665 |
Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window |
ORPHA:2299 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Pneumonia, Myocarditis, Leukocytosis, Thrombocytopenia, Hy... |
ORPHA:544482 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Pulmonary hypoplasia |
ORPHA:50945 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, Co... |
ORPHA:83617 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Pulmonary hypoplasia, Hepatoblastoma, Po... |
ORPHA:731 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... |
ORPHA:99125 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Thin skin, Uterine rupture, Bruisin... |
ORPHA:60030 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cryptorchidism, Enamel hypoplasia... |
ORPHA:2363 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Eisenmenger Syndrome |
|
Hypoxemia, Lethargy, Cyanosis, Aortopulmonary window |
ORPHA:97214 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Restrictive Dermopathy |
|
Hypospadias, Camptodactyly of finger, Epidermal hyperkeratosis, Pulmonary hypoplasia, Webbed neck... |
ORPHA:1662 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Difficulty walking, Knee flexion contracture |
OMIM:617239 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... |
ORPHA:90794 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Pn... |
ORPHA:3404 |
Thrombocytopenia-Absent Radius Syndrome |
|
Facial capillary hemangioma, Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patella... |
OMIM:274000 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion |
ORPHA:3109 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypoplasia, Limi... |
OMIM:618419 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Pulmonary hypoplas... |
ORPHA:93271 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus |
OMIM:264480 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... |
OMIM:263650 |
Zygomycosis |
|
Hematological neoplasm, Atelectasis, Pneumothorax, Acute infectious pneumonia, Pleural effusion |
ORPHA:73263 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Digeorge Syndrome |
|
Atelectasis, Recurrent pneumonia, Hydrocele testis, Ovarian cyst, Patellar dislocation, Attention... |
OMIM:188400 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Abnormal pulmonary ve... |
ORPHA:709 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Broad-based gait, Impulsivity, Cryptorchidi... |
OMIM:619503 |
Penile Agenesis |
|
Cryptorchidism, Bilateral lung agenesis, Pulmonary hypoplasia, Absent penis, Ambiguous genitalia |
ORPHA:49 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Hypospadias, Precocious puberty, Cryptorchidism, Hip dislocation, Radioulnar sy... |
OMIM:194190 |
Fanconi Anemia |
|
Hypospadias, Myelodysplasia, Abnormal preputium morphology, Cryptorchidism, Hip dislocation, Azoo... |
ORPHA:84 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Pulmonary hypoplasia |
OMIM:619351 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly... |
ORPHA:2388 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Craniosynostosis, Joint stiffness, Testicu... |
ORPHA:744 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Humeroradial synostosis, Aplasia of the uterus |
ORPHA:2879 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Macroorchidism, Joint stiffness, Carious teeth, Splenomegaly, Arthritis, C... |
ORPHA:93 |
Acrofacial Dysostosis 1, Nager Type |
|
Hip dislocation, Urticaria, Radioulnar synostosis, Bicornuate uterus, Limited elbow extension |
OMIM:154400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Wormian bones, Ulnar deviation of the wrist, External genital hypoplasia, Interphalangeal joint c... |
ORPHA:96334 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Carpal synostosis, Small scrotum, Hypospadias, Tarsal synostos... |
OMIM:201750 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Congenital hip dislocation, Inability to walk, Cryptorchidism, Hip di... |
OMIM:601803 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas defe... |
OMIM:137920 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Choreoathetosis, Hypoplasia of the uterus, Abnorm... |
ORPHA:3464 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Currarino Syndrome |
|
Bicornuate uterus, Presacral teratoma, Septate vagina, Rectovaginal fistula |
OMIM:176450 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Micrognathia, Cryptorchidism,... |
OMIM:163950 |
Okamoto Syndrome |
|
Bifid uterus, Prominent metopic ridge, Webbed neck |
ORPHA:2729 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Norrie Disease |
|
Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Uterine ruptur... |
ORPHA:649 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Natal tooth, Recurrent skin infections, Camptodactyly of finger, Decreased response t... |
ORPHA:3455 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia involving the carpal bones, Small scrotum, Hypospadias, Cryptorchidism, Humero... |
OMIM:276820 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Cyanosis, Abnormal calcification of the carpal bones, Fused cervical ver... |
ORPHA:51608 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent pneumonia, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent pneumonia, Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent pneumonia, Rectal abscess |
OMIM:233690 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, ... |
OMIM:268300 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Ulnar-Mammary Syndrome |
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Small scrotum, Elbow flexion contracture, Bicornuate uterus, Shawl scrotum, Micropenis, Imperfora... |
OMIM:181450 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Hypospadias, Limited elbow movement, Craniosynostosis, Cryptorchidism, ... |
OMIM:261540 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Primary Hyperoxaluria |
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Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Rectal abscess |
OMIM:608203 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Craniofacial Microsomia 1 |
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Block vertebrae, Pulmonary hypoplasia, Genu valgum |
OMIM:164210 |