Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Short neck, Cardiomegaly, Patent ductus arteriosus, Pericardia... |
OMIM:239850 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck |
OMIM:613885 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Cerebe... |
OMIM:617822 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis... |
OMIM:619313 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short 4th metacarpal, S... |
OMIM:118651 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hyd... |
OMIM:617967 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... |
OMIM:620070 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... |
ORPHA:363705 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Hy... |
OMIM:611134 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Intrauterine growth retardation, Truncus a... |
OMIM:615583 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... |
OMIM:608728 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular septal defect, Increased circulating free fatty acid... |
ORPHA:26793 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... |
OMIM:235510 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... |
OMIM:609616 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy |
ORPHA:300751 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Diastrophic Dysplasia |
|
Hip contracture, Flattened epiphysis, Genu valgum, Ulnar deviation of finger, Irregular epiphyses... |
OMIM:222600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Molar tooth si... |
OMIM:614815 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Nonimmu... |
OMIM:212065 |
Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Trident hand, Genu varum |
OMIM:146000 |
Pseudoachondroplasia |
|
Short metacarpal, Brachydactyly, Ulnar metaphyseal irregularity, Irregular carpal bones, Delayed ... |
OMIM:177170 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I... |
OMIM:619487 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... |
OMIM:618280 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema |
ORPHA:77259 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Hypoplasia of the musculature... |
ORPHA:79328 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Hip dysplasia, Shor... |
OMIM:614078 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Camptodactyly, Ankle flexion contracture, Knee flexion contracture |
ORPHA:435938 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... |
ORPHA:93316 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Metaphyseal widening, Flat acetabular roof, Cone-shaped epiphyse... |
OMIM:184260 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Pericardial effusion, Mitral valve prolapse, Webbed neck, Umbilical hernia |
ORPHA:536532 |
Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... |
OMIM:614524 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Patent ductus arteriosus, Hydrocephalus, Chiari type I malfor... |
ORPHA:1272 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Laron Syndrome |
|
Short long bone |
OMIM:262500 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia, Dehydration |
ORPHA:2260 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Abnormality of the neck, Pleural effusion |
ORPHA:464329 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Myhre Syndrome |
|
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize... |
OMIM:139210 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:352665 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... |
OMIM:614424 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Pulmonary edema |
ORPHA:73224 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left ... |
OMIM:619562 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intr... |
ORPHA:261330 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fet... |
ORPHA:2136 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra... |
OMIM:618961 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Palpebral edema, Camptodactyly of finger, Patent du... |
ORPHA:261337 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Hypertriglyceridemia, Edema |
ORPHA:167 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Limb hypertonia, Intrauterine growth retardation, Hypertrophic cardi... |
OMIM:615846 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Abnormal heart morphology, Lateral ventricle di... |
ORPHA:356961 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... |
ORPHA:93346 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, H... |
OMIM:616546 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... |
OMIM:615777 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Facial palsy, Polyhydramnios, Atrial septal defect, Intrauterine gro... |
OMIM:620186 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... |
ORPHA:239 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Flared metaphysis, Prominent interphalangeal joints, Sh... |
OMIM:215150 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Dysplastic aortic valve, Atrioventricular ... |
ORPHA:508488 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho... |
ORPHA:93352 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Metaphyseal widening, Advanced ossification of carpal... |
OMIM:224400 |
Gitelman Syndrome |
|
Primary hyperaldosteronism, Pericardial effusion, Rhabdomyolysis |
ORPHA:358 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia, Broad isch... |
OMIM:228520 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... |
ORPHA:51608 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Ascites, Myocarditis, Stiff neck |
ORPHA:99827 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Flared metaphysis, Femoral bow... |
OMIM:618019 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Clubbing of fingers, Sho... |
OMIM:156400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... |
OMIM:271640 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Microphthalmia With Limb Anomalies |
|
Finger syndactyly, Bowing of the long bones, Toe syndactyly, Sandal gap, Tarsal synostosis, Abnor... |
ORPHA:1106 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Abnormal midbrain morphology, Hypoplasia of the pons, Mitral valve pro... |
ORPHA:444072 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology, Polyhydramnios |
ORPHA:314621 |
Multiple Osteochondromas |
|
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:321 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal d... |
OMIM:615948 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... |
OMIM:164210 |
Branchiooculofacial Syndrome |
|
Facial palsy, Short neck, Elbow flexion contracture, Low posterior hairline, Branchial anomaly, I... |
OMIM:113620 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... |
ORPHA:68 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Congenital diaphragmatic hernia, Polyhydramnios, Contracture of the distal int... |
OMIM:613406 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... |
ORPHA:79139 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Fla... |
OMIM:271665 |
Pmm2-Cdg |
|
Pericarditis, Cerebellar vermis hypoplasia, Lymphedema, Pericardial effusion, Anasarca, Cerebella... |
ORPHA:79318 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Pyknoachondrogenesis |
|
Short iliac bones, Abnormal iliac wing morphology, Short long bone, Aplastic pubic bone, Hypoplas... |
ORPHA:3003 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Tendon xanthomatosis, Abnormal tendon morphology, Myocardial steatosis, Hyperchol... |
ORPHA:391665 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |