Gene Summary

Name:
fibrillin 1
Synonyms:
Fib-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Fbn1em1(IMPC)H HET Early adult 4.85×10-05
increased spleen weight Fbn1em1(IMPC)H HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fbn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fbn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mass Syndrome
Aortic aneurysm, Scoliosis, Pectus carinatum, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Acromicric Dysplasia
Short palm, Long eyelashes, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fif... OMIM:102370
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... ORPHA:91387
Acromicric Dysplasia
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Short metacarpal,... ORPHA:969
Neonatal Marfan Syndrome
Hypoxemia, Abnormal echocardiogram, Enlarged thorax, Mitral regurgitation, Emphysema, Flexion con... ORPHA:284979
Marfan Syndrome
Hammertoe, Equinus calcaneus, Protrusio acetabuli, Scoliosis, Mitral regurgitation, Decreased mus... OMIM:154700
Weill-Marchesani Syndrome 2
Brachydactyly, Aortic valve stenosis, Striae distensae, Short metacarpal, Broad skull, Broad ribs... OMIM:608328
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Aortic root aneurysm, Pectus excavatum, Narrow chest, Scapular winging, Mitral valve pr... OMIM:616914
Geleophysic Dysplasia 2
Ovoid vertebral bodies, Tricuspid stenosis, Mitral valve prolapse, Mitral stenosis, Aortic valve ... OMIM:614185
Shprintzen-Goldberg Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Abnormal aortic valve morphology, Pectus exc... ORPHA:2462
Stiff Skin Syndrome
Lack of skin elasticity ORPHA:2833
Weill-Marchesani Syndrome
Brachydactyly, Short thumb ORPHA:3449
Stiff Skin Syndrome
Lipodystrophy, Camptodactyly, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Isolated Ectopia Lentis
Malar flattening, Mandibular prognathia ORPHA:1885
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
ORPHA:2084
Ectopia Lentis 1, Isolated, Autosomal Dominant
OMIM:129600

The table below shows human diseases predicted to be associated to Fbn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Short proximal phalanx of finger, Clinodactyly of the 5th fing... OMIM:616849
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger OMIM:112410
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Mass Syndrome
Aortic aneurysm, Scoliosis, Pectus carinatum, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short metacarpal, Short phalanx of finger ORPHA:1276
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Pectus excavatum, Pectus carinatum, Aortic tortuosity, Ascending aortic... OMIM:616166
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Ischemic stroke, Cough, Myoca... ORPHA:2038
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Acromicric Dysplasia
Short palm, Long eyelashes, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fif... OMIM:102370
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infe... ORPHA:60025
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae OMIM:609655
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Heyn-Sproul-Jackson Syndrome
Short metacarpal, 11 pairs of ribs, Short phalanx of finger, Broad metacarpals, Sparse hair, Broa... OMIM:618724
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Uveitis, Proteinuria, Episcleritis, Conjunctivitis, Skin rash, Emphysema, Cough, Sm... ORPHA:36412
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm, Portal hypertension OMIM:210050
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Short femoral neck, Sho... OMIM:132400
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Thick eyebrow, Micrognathia, Preaxial hand pol... ORPHA:1278
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Short metacarpal, Limited knee extension, Abnormal hip joint morphology, Lim... OMIM:600969
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Exostoses, Multiple, Type Ii
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133700
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, Congenital diaphragmatic hern... ORPHA:1166
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Fibular hypoplasia, Short 5th f... OMIM:227270
Van Bogaert-Hozay Syndrome
Abnormal hair morphology, Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasi... OMIM:277150
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... ORPHA:91387
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Vascular tortuosity, Joint laxity, Supravalvular aortic stenosis, Congenital diaphragm... OMIM:219100
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Talipes, Hypoplasia of the radius, Elbow dislocation, Metatarsus adductus... ORPHA:2249
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Patent... ORPHA:1120
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Incr... ORPHA:750
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Brachydactyly Type E
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... ORPHA:93387
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Upper limb muscle weakness,... ORPHA:494424
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolumbar kyp... OMIM:130090
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Birt-Hogg-Dubé Syndrome
Emphysema, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Inguinal hernia, Metacarpophalangeal joint hyperextensibility, Pulmonary bulla,... OMIM:130050
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Atrial septal defect, Neonatal respirat... ORPHA:2847
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart valve morphology ORPHA:171719
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Abnormality of ulnar metaphysis, Abnormality o... ORPHA:1040
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Rare Circulatory System Disease
Thoracic kyphosis, Limited wrist movement, Abnormal vascular morphology, Arterial calcification, ... ORPHA:98028
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Loeys-Dietz Syndrome 4
Emphysema, Bruising susceptibility, Aortic root aneurysm, Joint laxity, Spondylolisthesis, Aortic... OMIM:614816
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Aminoaciduria, Atelectasis, Right ventricul... OMIM:268500
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radiu... ORPHA:75508
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Nephrotic syndrome, Hepatitis ORPHA:60
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad palm, Broad femor... OMIM:271650
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Periventricular Nodular Heterotopia
Shoulder dislocation, Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteri... ORPHA:98892
Marfanoid Habitus With Situs Inversus
Kyphosis, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Scoliosis, Pectus cari... OMIM:609008
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Rheumatoid factor positive,... OMIM:619632
Acromicric Dysplasia
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Short metacarpal,... ORPHA:969
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Marfanoid Hypermobility Syndrome
Aortic regurgitation, Pectus excavatum, Arachnodactyly, Aortic aneurysm, Joint hypermobility, Sco... OMIM:154750
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... ORPHA:79445
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Osteomalacia, Stippled calcifica... ORPHA:51608
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Bilateral trilobed lungs, Congenital diaphragmatic hernia OMIM:613630
Arteriosclerosis, Severe Juvenile
Short phalanx of finger, Myocardial infarction, Arteriosclerosis, Calcification of the aorta, Dys... OMIM:208060
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteoporosis, Generalized joint laxity, Limb muscle weakness, Inguinal hernia, Decreased muscle m... ORPHA:1900
Laubry-Pezzi Syndrome
Abnormal aortic valve cusp morphology, Patent foramen ovale, Congestive heart failure, Aortic reg... ORPHA:99094
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal cardiovascular system physiology, Pleural effusi... ORPHA:50251
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Short tibia, Talipes equinoval... OMIM:605274
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short metacarpal, Short thumb, Duplication of the distal phalanx of the 5th finger, Short nail, A... ORPHA:973
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Hypertension, Ankylosi... OMIM:208000
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiecta... OMIM:242700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5th finger, Abnormal sca... ORPHA:2141
Congenital Diaphragmatic Hernia
Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternu... ORPHA:2140
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metacarpal, Short metatarsal OMIM:113400
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Netherton Syndrome
Emphysema, Ectopic kidney, Asthma, Hydronephrosis, Abnormal hair morphology, Sparse eyebrow, Decr... ORPHA:634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... ORPHA:392
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Cough, Bronchiectasis, Recurrent respiratory infections, Renal... OMIM:619468
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, Mitral valve prolapse, Pectus excavatum OMIM:157700
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extension, Ingui... OMIM:180870
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Brachydactyly, Type E2
Brachydactyly, Short metacarpal, Short metatarsal OMIM:613382
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short 5th metacarpal, Single transverse palmar crease, Short distal phalanx of the... ORPHA:370010
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:261102
Takayasu Arteritis
Abnormal endocardium morphology, Vascular dilatation, Abnormal heart valve morphology, Inflammato... ORPHA:3287
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Hypoxemia, Nail bed telangiectasia, Cerebral arteriovenous malformat... OMIM:187300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Short finger, Short toe, Pili ... OMIM:191482
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Short metacarpal, Pes planus, Broad femoral neck, ... OMIM:615222
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb ORPHA:2489
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Cough, Dyspnea, Heart mur... ORPHA:1054
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Abnormal morphology of ulna, Short tibia, Sho... ORPHA:93323
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Hyperte... ORPHA:391665
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Cubitus valgus, Low posterior hairline ORPHA:261524
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Short metacarpal, Metacarpophalangeal synostosis, Tarsal synostosis, Aplasia/H... OMIM:186400
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Respirat... OMIM:601612
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Loeys-Dietz Syndrome 3
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... OMIM:613795
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Dextrocardia, Abnormal rib morphology, Situs inversu... OMIM:613686
Hypophosphatasia
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Narrow chest, Abnorma... ORPHA:436
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Webbed neck, Flattened epiphysis, Short femoral neck, Dislocated ... OMIM:612350
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Finger syndactyly, Short thorax, Short neck, Kyphosis, Abnormal fo... ORPHA:2311
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal phalanx of finger, Eas... OMIM:311895
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Short phalanx of finger, Short thumb, Joint contrac... OMIM:194350
Arterial Tortuosity Syndrome
Cardiac arrest, Clinodactyly of the 5th finger, Telangiectasia of the skin, Inguinal hernia, Scol... ORPHA:3342
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Arterial Tortuosity Syndrome
Hiatus hernia, Bruising susceptibility, Pectus carinatum, Flexion contracture, Aortic regurgitati... OMIM:208050
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short phalanx of finger, Broad hallux, Broad distal phalanx of finger, Rounde... OMIM:255980
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Marfan Syndrome
Osteoporosis, Protrusio acetabuli, Inguinal hernia, Scoliosis, Spontaneous pneumothorax, Emphysem... ORPHA:558
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... OMIM:190351
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short femoral neck, Dislocated radial head, Pes... OMIM:618395
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, 11 pairs of ribs, Triphalangea... OMIM:201170
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Short metacarpal, Micrognathia, Patellar dislocation, Short toe, Genu valgum, Shor... OMIM:614078
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Abnormal pericardium morphology, Per... ORPHA:679
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Short finger, Short toe OMIM:604381
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly OMIM:228940
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Abnormal cardiovascular system physiology, ... ORPHA:289601
Rigid Spine Syndrome
Hamstring contractures, Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atr... ORPHA:97244
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Hypoplastic sacrum, Short femoral neck, Cone-shaped epiphyses of the phalange... OMIM:304950
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Talipes, Clinodactyly of the 5th finger, Abnormality of fibul... ORPHA:2557
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Irregular femoral epiphysis, Upper-limb metaphyseal irregularity, Short long bone, Lo... OMIM:618728
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Synophrys, Hirsutism ORPHA:357175
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Flared metaphysis, Short middle phalanx of the 2nd finger, Metaphyseal dysp... OMIM:156510
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Hypoxemia, Patent ductus ar... ORPHA:860
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... OMIM:614900
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Short phalanx of finger, Pes cavus, Long fingers, Proximal placement of thumb, Sh... OMIM:613458
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Scimitar Syndrome
Abnormality of the vertebral column, Tricuspid atresia, Pulmonary artery hypoplasia, Hernia, Left... ORPHA:185
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Short palm, Short metacarpal, Short phalanx of finger, Short thumb, Enlarged inter... OMIM:151200
Acromesomelic Dysplasia 1
Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metata... OMIM:602875
Calcification Of Joints And Arteries
Femoral arterial calcification, Iliac arterial calcification, Tibial arterial calcification, Inte... OMIM:211800
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:1572
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Double o... OMIM:618254
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Osteoporosis, Scoliosis, Hallux valgus, M... ORPHA:536467
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary insufficiency, Generalized arterial tortuosity, Pulmonary artery aneurysm, P... OMIM:614437
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Synophrys, Hirsutism OMIM:615162
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Immunodeficiency 59 And Hypoglycemia
Slender finger, Recurrent upper respiratory tract infections, Recurrent skin infections, Acne inv... OMIM:233600
Neonatal Marfan Syndrome
Hypoxemia, Abnormal echocardiogram, Enlarged thorax, Mitral regurgitation, Emphysema, Flexion con... ORPHA:284979
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fing... OMIM:600593
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Asthma, Dilated left subclavian artery... ORPHA:449400
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media OMIM:608971
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Pyelonephritis, Congestive heart failure, Hernia, Joint laxity, S... ORPHA:90349
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Short phalanx of finger, Delayed ossification of carpa... OMIM:127200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Decreased proportion of memory B cells, Hepatosplenomegaly, Anticardiolipin IgG ant... OMIM:615559
Cap Myopathy
Lower limb amyotrophy, Thoracic scoliosis, Reduced systolic function, Sinus tachycardia, Aortic r... ORPHA:171881
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Kyphosis, Arteriosclerosis, Scoliosis, Medial calcificati... OMIM:177850
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Lower limb muscle weakness, Osteoporosis, Macroglossia, Scoliosis, Cardiom... ORPHA:365
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic valve stenosis, Congestive heart failure, Aortic root aneurysm, Mitral valve ca... ORPHA:363618
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow vertebral interpedicu... OMIM:601216
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia OMIM:132450
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Coarctation of aorta, Pectus excavatum, Arachnodactyly, Congenital diaphrag... OMIM:617602
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... OMIM:210250
Leri Pleonosteosis
Brachydactyly, Abnormally straight spine, Abnormal form of the vertebral bodies, Abnormality of e... ORPHA:2900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:603909
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Umbilical hernia, Camptodactyly of finger, Abnormal r... ORPHA:1488
Immunodeficiency 24
Decreased circulating IgG level, Reduced proportion of mucosal-associated invariant T cells, Decr... OMIM:615897
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Mitral valve calcification,... ORPHA:2072
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Hypertension, Coronary... OMIM:614473
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, ... ORPHA:1686
Keutel Syndrome
Emphysema, Sinusitis, Recurrent otitis media, Cerebral calcification, Airway obstruction, Pulmona... OMIM:245150
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Rin2 Syndrome
Upper eyelid edema, Brachydactyly, Bruising susceptibility, Increased susceptibility to fractures... ORPHA:217335
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Temtamy Syndrome
Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Aortic aneurysm, Short toe, Joint hype... ORPHA:1777
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thick eyebrow, Short toe, Hypertrichosis,... OMIM:619636
Noonan Syndrome 10
Short neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural ... OMIM:616564
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Single transverse palmar crease, Me... OMIM:601559
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic lef... OMIM:615524
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fo... ORPHA:264675
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Short neck, Patent ductus arteriosus, Atrioventricular canal defect, Hypertr... ORPHA:251071
Costello Syndrome
Short neck, Woolly hair, Abnormal hair morphology, Thickened Achilles tendon, Hypertrophic cardio... ORPHA:3071
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Highly arched eyebrow, Radiouln... OMIM:605282
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Brachydactyly, Type E1
Brachydactyly, Type E brachydactyly, Short metacarpal, Short clavicles, Short metatarsal OMIM:113300
Summitt Syndrome
Brachydactyly, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyly of the 5th finge... ORPHA:3210
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Inguinal hernia, Scoliosis, Metaphyseal widening, Genu valgum, Supernum... OMIM:182212
Metatropic Dysplasia
Joint stiffness, Aplasia/Hypoplasia of the lungs, Abnormal enchondral ossification, Kyphosis, Abn... ORPHA:2635
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Osteoporosis, Protrusio acetabuli, Absent distal phalanges, Inguin... OMIM:610168
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Ellis Van Creveld Syndrome
Emphysema, Hydroureter, Abnormality of the ureter, Abnormal heart valve morphology, Aplasia/Hypop... ORPHA:289
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Hernia, Osteoporosis, Macroglossia, Scoliosis, Ventricular septal de... ORPHA:363705
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Mitral valve prolapse, Precocious atherosclerosis ORPHA:230839
Listeriosis
Pyelonephritis, Pneumonia, Rhabdomyolysis, Congestive heart failure, Infectious encephalitis, Cho... ORPHA:533
Marfan Syndrome
Hammertoe, Equinus calcaneus, Protrusio acetabuli, Scoliosis, Mitral regurgitation, Decreased mus... OMIM:154700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis OMIM:617087
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Back pain, ... OMIM:271530
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Pes planus, Osteolytic defects of the phalanges of the hand, Alo... OMIM:600705
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Micrognathia, Microcepha... OMIM:224690
Congenital Contractural Arachnodactyly
Aortic aneurysm, Scoliosis, Congenital kyphoscoliosis, Mitral valve prolapse ORPHA:115
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Cocaine Intoxication
Tachypnea, Hypertension, Prolonged QRS complex, Wheezing, Pulmonary edema, Hypotension, Cough, Pr... ORPHA:90068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Coarctation of aorta, Polydactyly, Congenital diaphragmatic herni... OMIM:301022
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth OMIM:218650
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Pes planus, Metatarsus adductus, Pes cavus, Cubitus valgus,... OMIM:311450
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Dyspnea, Upper airway obstruction, Respiratory distress, Aspiratio... ORPHA:141152
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Abnormality of the scalp hair, Pes planus, Elbow dislocatio... ORPHA:2804
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Inguinal hernia, Hypoplastic iliac wi... OMIM:609945
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short neck, Mitral valve prolapse ORPHA:2233
Pauci-Immune Glomerulonephritis
Scleritis, Pulmonary hemorrhage, Glomerulonephritis, Cough, Small vessel vasculitis, Arteritis, T... ORPHA:93126
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Supernumerary nipple, Hypoplasia of the radius, Microg... ORPHA:246
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Short metacarpal, Hypoplastic acetabul... OMIM:607326
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Hip dislocation, Syno... OMIM:311300
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Inguinal hernia, Pointed proximal second through fifth metacarpals, Scoliosis, Meta... OMIM:253010
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Limb undergrowth, Shorteni... OMIM:601356
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Arteritis, Inflammatory abnormality o... OMIM:301054
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Short phalanx o... OMIM:606895
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Iritis, Pleural effusion, Rheumatoid arthritis, Hypertension, Granulomatous coronary arteritis, V... OMIM:108050
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Patent ductus arteriosus, C... ORPHA:166272
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Aortic regurgitation, Coarctation of aorta, Hy... ORPHA:402075
Tarsal-Carpal Coalition Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... OMIM:186570
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Fragile X Syndrome
Scoliosis, Mitral valve prolapse, Pectus excavatum OMIM:300624
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Flexion contracture, Short palm, Rhizo-meso-acromelic limb shortening, Short metac... OMIM:611717