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Gene: Fbn1 MGI:95489

Gene Summary

Name:

fibrillin 1

Synonyms:

Fib-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased lymphocyte cell number	Fbn1^em1(IMPC)H	HET	Early adult	1.71×10^-05
increased mean platelet volume	Fbn1^em1(IMPC)H	HET	Early adult	4.85×10^-05
increased neutrophil cell number	Fbn1^em1(IMPC)H	HET	Early adult	1.38×10^-06
preweaning lethality, incomplete penetrance	Fbn1^em1(IMPC)H	HOM	Early adult	0.00

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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.

Human diseases associated with Fbn1 (16 diseases)
Human diseases predicted to be associated with Fbn1 (3068 diseases)

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

Disease	Matching phenotypes	Source
Mass Syndrome	Pectus carinatum, Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection, Scoliosis	OMIM:604308
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Short phalanx of finger...	OMIM:102370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Abnormal eyebrow mo...	ORPHA:969
Ectopia Lentis 1, Isolated, Autosomal Dominant	Pectus carinatum, Aortic root aneurysm, Mitral valve prolapse, Pectus excavatum, Scoliosis	OMIM:129600
Neonatal Marfan Syndrome	Pectus carinatum, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Enlarged thorax, T...	ORPHA:284979
Marfan Syndrome	Aortic root aneurysm, Decreased muscle mass, Premature osteoarthritis, Mitral regurgitation, Redu...	OMIM:154700
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Short finger, Elbo...	OMIM:608328
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow chest, Aortic root aneurysm, Mitral valve prolapse, Scapular winging, Pectus excavatum, Hy...	OMIM:616914
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar...	OMIM:614185
Shprintzen-Goldberg Syndrome	Pectus carinatum, Narrow chest, Abnormal form of the vertebral bodies, Mitral regurgitation, Abno...	ORPHA:2462
Stiff Skin Syndrome	Lack of skin elasticity	ORPHA:2833
Stiff Skin Syndrome	Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly	OMIM:184900
Isolated Ectopia Lentis	Mandibular prognathia, Malar flattening	ORPHA:1885
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome		ORPHA:2084

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

Disease	Matching phenotypes	Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Brachydactyly, Type A1, D	Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ab...	OMIM:616849
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormal hair morphol...	OMIM:250460
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi...	OMIM:132900
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Leri-Weill Dyschondrosteosis	Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing...	OMIM:127300
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma...	ORPHA:1354
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e...	ORPHA:199241
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Aortic Aneurysm, Familial Thoracic 9	Pectus carinatum, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic...	OMIM:616166
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Mass Syndrome	Pectus carinatum, Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection, Scoliosis	OMIM:604308
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension, Cerebral berry aneurysm	OMIM:210050
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Short phalanx of finger...	OMIM:102370
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Heyn-Sproul-Jackson Syndrome	Sparse hair, 11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad me...	OMIM:618724
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower...	OMIM:605820
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am...	OMIM:158600
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A...	OMIM:132400
Talo-Patello-Scaphoid Osteolysis	Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae	ORPHA:50809
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert...	OMIM:620236
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho...	ORPHA:2038
Allergic Bronchopulmonary Aspergillosis	Emphysema, Pulmonary arterial hypertension, Bronchiectasis	ORPHA:1164
Mitral Valve Prolapse 1	Reversed usual vertebral column curves, Pectus excavatum, Mitral regurgitation, Mitral valve prol...	OMIM:157700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bruising susceptibility, Descending aortic dissection, Bronchiectasis, Ascending aortic dissection	OMIM:620080
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m...	OMIM:617030
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Fibromuscular Dysplasia, Arterial	Stroke, Arterial fibromuscular dysplasia, Aortic dissection	OMIM:135580
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl...	ORPHA:2249
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr...	ORPHA:60033
Exostoses, Multiple, Type Ii	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133700
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valv...	OMIM:609008
Hypocomplementemic Urticarial Vasculitis	Emphysema, Abnormal heart valve morphology, Autoimmunity, Renal insufficiency, Splenomegaly, Pleu...	ORPHA:36412
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Bicuspid aortic valve, Asce...	OMIM:619825
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Thick eyebrow, Micrognathia, Brachydact...	ORPHA:1278
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Ankylosis, Arterial stenosis, Carotid artery ca...	OMIM:208000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Congenital diaphr...	ORPHA:2141
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Van Bogaert-Hozay Syndrome	Abnormal hair morphology, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal u...	OMIM:277150
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather...	ORPHA:494424
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration, Parathyroid adenoma	ORPHA:122
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Joint stiffness, Abnormal hip bone morphology, Congenital diaphragmatic hern...	ORPHA:1166
Mhc Class I Deficiency 1	Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie...	OMIM:604571
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Supernumerary nipple, Abnormal foot morphology, Mesomelic leg shorten...	OMIM:605274
Calcification Of Joints And Arteries	Tibial arterial calcification, Ectopic ossification, Femoral arterial calcification, Intermittent...	OMIM:211800
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat...	ORPHA:70589
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology	OMIM:614100
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Tricuspid regurgitation, Pre...	ORPHA:1120
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Gen...	ORPHA:321
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ...	OMIM:613495
Cutis Laxa-Marfanoid Syndrome	Emphysema, Abnormal heart valve morphology	ORPHA:171719
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Mitral valve prolapse, Pulmonary bulla, Finger joint hypermobility, Diffuse alveol...	OMIM:130050
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi...	OMIM:609115
Immunodeficiency 51	Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia...	OMIM:613953
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Abnormal pulmonary in...	OMIM:612387
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Limited elbow extens...	OMIM:271650
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Abnormal eyebrow mo...	ORPHA:969
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric...	OMIM:314400
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia...	OMIM:219100
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal...	ORPHA:3246
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Short 4th metacarpal, ...	ORPHA:79445
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Adrenal calcification, Osteomala...	ORPHA:51608
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Joint hypermobility, He...	ORPHA:98892
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ge...	ORPHA:93351
Fetal Encasement Syndrome	Tetralogy of Fallot, Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Calcification of the aorta, Dysplasia of second lumba...	OMIM:208060
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Chondrodysplasia With Joint Dislocations, Gpapp Type	Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Micrognathia, Limited elbow exten...	OMIM:614078
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Bronchiectasis, Splenomegaly, Chronic bronchitis	OMIM:613490
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Pericardial And Diaphragmatic Defect	Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard...	ORPHA:2847
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short nail, Short thumb, Abnormal metacarpal morphology, Short metacarpal, Duplication of the dis...	ORPHA:973
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Pleural Mesothelioma	Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal...	ORPHA:50251
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger	ORPHA:1471
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca...	ORPHA:392
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Emphysema, Abnormal hair morphol...	ORPHA:634
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Eosinophilic infiltration of the eso...	OMIM:614816
Distal 7Q11.23 Microduplication Syndrome	Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:261102
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Short foot, Short metatarsal, S...	OMIM:180870
Acromegaloid Facial Appearance Syndrome	Highly arched eyebrow, Short 5th metacarpal, Micrognathia, Large hands, Synophrys, Tapered finger	OMIM:102150
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split...	OMIM:253700
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Extractable nuclear antigen ...	OMIM:620321
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Thoraci...	ORPHA:1900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb	ORPHA:2489
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Paternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Cubitus valgus, Short metacarpal	ORPHA:261524
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Distal Myopathy, Welander Type	Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han...	ORPHA:603
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid...	OMIM:614473
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations...	ORPHA:99094
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Joint contracture of the hand, Thin skin, Cigarette-paper scars, Broad femoral neck,...	OMIM:612350
Acrodysostosis	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Abnormal diaphysis morphology...	ORPHA:950
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ...	ORPHA:75249
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Abnormal sternum morphology, Medial calcification of large arteries,...	OMIM:177850
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa...	OMIM:187300
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Mitral regurgitation, Hypertension, Cerebral berry aneurysm, Mitral valve prolapse	OMIM:173900
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle...	OMIM:619477
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,...	ORPHA:2557
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Marfan Syndrome	Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Limited elbow movement, Arachn...	ORPHA:558
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Interphalangeal joint contracture of finger, Short thumb, Enlarged ...	OMIM:151200
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Abnormal pattern of respiration, Hypertrophic cardiomyopathy, Ab...	ORPHA:3287
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short 5th metacarpal, Abnormal hand morphology, Clinodactyly of the 5th finger, Short digit	ORPHA:228190
Immunodeficiency 89 And Autoimmunity	Rheumatoid factor positive, Anti-thyroglobulin antibody positivity, Increased circulating IgG lev...	OMIM:619632
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Cap Myopathy	Aortic root aneurysm, Sinus tachycardia, Lumbar hyperlordosis, Mitral valve prolapse, Thoracic sc...	ORPHA:171881
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Aortic root aneurysm, Dysplasia of the femoral head, Mitral valve prola...	ORPHA:536467
Alpha-1-Antitrypsin Deficiency	Bronchitis, Hepatitis, Emphysema, Panniculitis, Hepatomegaly, Nephrotic syndrome, Perinuclear ant...	ORPHA:60
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged interphalangeal joi...	OMIM:615222
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab...	ORPHA:289601
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Noonan Syndrome 8	Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation,...	OMIM:615355
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial s...	OMIM:301039
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Noonan Syndrome 10	Pectus carinatum, Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve pr...	OMIM:616564
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Arterial Tortuosity Syndrome	Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, ...	ORPHA:3342
Odontochondrodysplasia 1	Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Genu recurvatum, Micromelia, Irregular...	OMIM:184260
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri...	OMIM:612561
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Cardiomyopathy, Familial Hypertrophic, 26	Atrioventricular block, Left anterior fascicular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes planus, Hypoplasia of the ulna,...	OMIM:618395
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Giant Cell Arteritis	Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric...	ORPHA:397
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Mitral valve prolapse, Stroke, Arrhythmia, Spina bifida occulta, Pre...	ORPHA:230839
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Metaphyseal dysp...	OMIM:156510
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Hypophosphatasia	Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abn...	ORPHA:436
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil...	ORPHA:1054
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal rib morphology, Umbilical hernia, Camptodactyly of finger, Abnormal f...	ORPHA:2311
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Synophrys	ORPHA:357175
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Enamel hypoplasia, Hypoplasia of the radius, H...	OMIM:212780
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Pectus excavatum, Mitral regurgitation, Mitral valve prolapse	OMIM:225320
Immunodeficiency 59 And Hypoglycemia	Slender finger, Recurrent upper respiratory tract infections, Arteritis, Pectus carinatum, Acne i...	OMIM:233600
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:99811
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc...	ORPHA:457050
Acromesomelic Dysplasia 1	Acromesomelia, Short nail, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped ...	OMIM:602875
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr...	OMIM:619656
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Sparse lateral eyebrow, F...	OMIM:190351
Congenital Diaphragmatic Hernia	Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonar...	ORPHA:2140
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Congenital diaphragmatic hernia, Neonatal death, Ventricular septal defe...	OMIM:615524
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Ectopia Lentis 1, Isolated, Autosomal Dominant	Pectus carinatum, Aortic root aneurysm, Mitral valve prolapse, Pectus excavatum, Scoliosis	OMIM:129600
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Mitral valve prolapse, Intervertebral space n...	OMIM:601216
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Congenital Tracheomalacia	Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc...	ORPHA:95430
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Ischemic stroke, Pleural...	ORPHA:679
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro...	ORPHA:228410
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo...	OMIM:208050
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology...	OMIM:601612
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology	ORPHA:270
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Enlarged proximal interphalangeal ...	OMIM:186300
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Antin...	OMIM:603909
Intellectual Developmental Disorder, Autosomal Recessive 35	Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Synophrys	OMIM:615162
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Thoracic scoliosis, Ventricular septal defect, Atrial septal defect, Kyphos...	OMIM:603387
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Abnormal internal carotid...	ORPHA:391665
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the...	OMIM:614900
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Coxa vara, Metaphys...	ORPHA:174
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ...	OMIM:600334
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Myopathy, Myofibrillar, 6	Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Thoracic scoliosis...	OMIM:612954
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Contractural Arachnodactyly, Congenital	Pectus carinatum, Congenital kyphoscoliosis, Aortic root aneurysm, Mitral regurgitation, Mitral v...	OMIM:121050
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Recurrent shoulder d...	ORPHA:230851
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am...	OMIM:500002
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple...	OMIM:608971
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E...	ORPHA:363618
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Orthopnea, Vasculitis, Dilatation of the cerebral artery, Hypertrophi...	ORPHA:365
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Camurati-Engelmann Disease, Type 2	Thoracolumbar scoliosis, Mitral regurgitation, Mitral valve prolapse	OMIM:606631
Leri Pleonosteosis	Broad thumb, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Camptodactyly ...	ORPHA:2900
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev...	OMIM:265450
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Chronic otitis media, Emphysema, Lymphopenia, Decreased circulating antibo...	ORPHA:1572
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot...	OMIM:619402
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Sandal gap, Kyphosis, Clinodactyly of the 5th finger, Congenital diaphragma...	OMIM:617602
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Thoracolumbar kyphosis, Abnormal pulmonary in...	ORPHA:2072
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl...	OMIM:620068
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Macs Syndrome	Dilation of Virchow-Robin spaces, Prolonged bleeding time, Bruising susceptibility, Umbilical her...	OMIM:613075
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Microg...	OMIM:619135
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Pes...	OMIM:600705
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ...	OMIM:620662
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D...	ORPHA:90349
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial...	OMIM:300887
Temtamy Syndrome	Short toe, Joint hypermobility, Aortic aneurysm, Brachydactyly, Clinodactyly of the 5th finger, G...	ORPHA:1777
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, Broad toe, Bro...	OMIM:619636
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Morbilliform rash, Erythema nodosum, Tachycardia, Purpura, Epididymitis, Diffu...	ORPHA:99827
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers	OMIM:616209
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar...	OMIM:175050
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Hypoplasia of the...	ORPHA:246
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Neonatal Marfan Syndrome	Pectus carinatum, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Enlarged thorax, T...	ORPHA:284979
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th...	ORPHA:449400
Rigid Spine Syndrome	Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Cardiac co...	ORPHA:97244
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Syndactyly, Brachy...	OMIM:605282
Rin2 Syndrome	Bruising susceptibility, Abnormal sternum morphology, Umbilical hernia, Upper eyelid edema, Incre...	ORPHA:217335
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Portal hypertension, Cryptorchidism	OMIM:620365
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re...	OMIM:620067
Costello Syndrome	Ulnar deviation of finger, Abnormal hair morphology, Hypertrophic cardiomyopathy, Abnormal dental...	ORPHA:3071
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Enlarged thorax, Tetralogy of Fallot, Hypertrophic cardiomyo...	ORPHA:251071
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
W Syndrome	Abnormality of the scalp hair, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus...	ORPHA:2804
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Listeriosis	Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Respiratory distress, Osteomyel...	ORPHA:533
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Metatropic Dysplasia	Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, ...	ORPHA:2635
Moyamoya Disease 5	Moyamoya phenomenon, Ascending tubular aorta aneurysm	OMIM:614042
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum, Pes planu...	OMIM:614134
Marfan Syndrome	Aortic root aneurysm, Decreased muscle mass, Premature osteoarthritis, Mitral regurgitation, Redu...	OMIM:154700
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Elbow dislocation, Ab...	ORPHA:3258
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Short thorax, Scoliosis	ORPHA:88630
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic her...	OMIM:613177
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Cardiospondylocarpofacial Syndrome	Mitral regurgitation, Abnormal form of the vertebral bodies, Mitral valve prolapse	ORPHA:3238
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Cutis Laxa, Autosomal Recessive, Type Ib	Aortic root aneurysm, Generalized arterial tortuosity, Congenital diaphragmatic hernia, Hypoplasi...	OMIM:614437
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Fair hair, Brachydactyly, Short metatarsal, Red hair, Advanced ossificatio...	OMIM:614613
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Ellis Van Creveld Syndrome	Acute leukemia, Hydroureter, Abnormal morphology of female internal genitalia, Emphysema, Abnorma...	ORPHA:289
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Curly eyelas...	OMIM:611717
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:618806
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Avascular necrosis of the capital femoral...	ORPHA:93308
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ...	ORPHA:363705
Craniofrontonasal Dysplasia	Scoliosis, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, ...	ORPHA:1520
Variegate Porphyria, Childhood-Onset	Scarring, Short metacarpal, Short finger	OMIM:620483
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a...	OMIM:610168
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Double outlet right ventric...	OMIM:618254
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of...	OMIM:253010
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Abnormal pleura morphology, Decreased circulating IgG2 lev...	ORPHA:2571
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, M...	OMIM:224690
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Pauci-Immune Glomerulonephritis	Arteritis, Crescentic glomerulonephritis, Pulmonary hemorrhage, Abnormality of the pulmonary vasc...	ORPHA:93126
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ...	ORPHA:402075
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod...	ORPHA:3104
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio...	OMIM:613834
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Ascending tubular aorta aneurysm, Arterial tortuosity	OMIM:132800
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Aortic root aneurysm, Genu valgum, Congenital diaphragmatic hernia, Mitral v...	OMIM:245600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Gaucher Disease, Type Iiic	Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block...	ORPHA:500
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Fragile X Syndrome	Scoliosis, Mitral valve prolapse, Ascending tubular aorta aneurysm	ORPHA:908
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia	ORPHA:141152
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Low anterior hairline, Short ...	ORPHA:3201
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Oligohydramnios, Polyhydramnios, Congenital di...	OMIM:263210
Anauxetic Dysplasia 3	Broad middle phalanx of finger, High anterior hairline, Metaphyseal cupping, Short middle phalanx...	OMIM:618853
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Sparse eyebrow, Cone-shaped epiphysis, Camptodactyly of finger, S...	ORPHA:77258
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Kypho...	OMIM:300280
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent fora...	OMIM:619699
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Aicardi-Goutières Syndrome	Scoliosis, Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cerebral calcification, Calcificatio...	ORPHA:51
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Mitral regurgitation, Mitral valve prolapse, Pleuritis, Pericarditis	ORPHA:2848
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Hypoplasia of the radius	ORPHA:2252
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Mosaic Trisomy 1	Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septal defect, Arachn...	ORPHA:1692
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip disloc...	ORPHA:90348
Ciliary Dyskinesia, Primary, 29	Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Decreased circulating anti...	OMIM:615872
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Fragile X Syndrome	Pectus excavatum, Scoliosis, Mitral valve prolapse	OMIM:300624
Congenital Contractural Arachnodactyly	Aortic aneurysm, Scoliosis, Congenital kyphoscoliosis, Mitral valve prolapse	ORPHA:115
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Congenital diaphragmatic hernia, Decreased skull ossification, Syndactyly, Omphal...	OMIM:601163
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Sandhoff Disease	Cherry red spot of the macula, Recurrent respiratory infections, Kyphosis, Congestive heart failure	ORPHA:796
Osteogenesis Imperfecta	Thin ribs, Aortic root aneurysm, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu val...	ORPHA:666
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short neck, Mitral valve prolapse	ORPHA:2233
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Arterial dissection, Bruising susceptibility, Aortic dissection, Arterial t...	ORPHA:284984
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus	OMIM:619638
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Decreased muscle mass, Redundant skin, Malar flattening, Excessive wr...	OMIM:612940
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Thoracic hypoplasia, Congestive heart failure, Respiratory distress, Bowin...	OMIM:619751
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Sparse eyebrow, Rhizomelia, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, Fibular bowin...	ORPHA:1427
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Angel-Shaped Phalango-Epiphyseal Dysplasia	Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of finger, Hip dysplasi...	ORPHA:63442
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Hypoplastic distal ...	OMIM:182250
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Biconcave vertebral bodies, Mitral valve prolapse, Stroke, Kyphoscoliosis, Pect...	OMIM:236200
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Thick eyebrow, Brachydactyly, Short phalanx of finger, Widow's peak, Br...	OMIM:614684
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Kyphosis, Recurrent otitis media, Sacral dimpl...	OMIM:609029
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly, Uncombable hair, Sparse hair	ORPHA:1264
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A...	ORPHA:758
Boudin-Mortier Syndrome	Pectus excavatum, Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Thick eyebrow, Microcephaly, Radioulnar synostosis, Abnormal...	ORPHA:3268
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia	ORPHA:438134
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Aortic root aneurysm, Mitral valve prolapse, Ventral hernia, Short neck, Hip dislocat...	OMIM:618000
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Bruising susceptibility, Femoral bowing, Increased suscept...	OMIM:166200
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph...	OMIM:607326
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Enamel hypoplasia, Brachydactyly	OMIM:612463
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Brucellosis	Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Purpura, Endocarditis, ...	ORPHA:1304
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Broad clavicles, Atrioventricular block, Abnormal form of the vertebral bodies, Mitral valve prol...	ORPHA:371428
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Facial hypertrichosis, Aplasia of the distal phalanx of the 5th t...	OMIM:618658
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Abnormal dental en...	ORPHA:2616
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ...	ORPHA:958
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia...	ORPHA:3320
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short neck, Mitral valve prolapse	ORPHA:2183
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Mitral valve prolapse, Arachnodactyly, Dis...	OMIM:182212
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis	ORPHA:930
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo...	ORPHA:97240
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Oculopharyngeal Muscular Dystrophy 1	Facial palsy, Limb muscle weakness, Ragged-red muscle fibers	OMIM:164300
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Classic Multiminicore Myopathy	Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Scoliosis, Right vent...	ORPHA:324604
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ...	ORPHA:538
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragmatic...	ORPHA:1488
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Central Core Disease	Mitral valve prolapse, Kyphoscoliosis	ORPHA:597
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b...	OMIM:151210
Acrocallosal Syndrome	Inguinal hernia, Abnormal clavicle morphology, Congenital diaphragmatic hernia	ORPHA:36
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone...	ORPHA:166272
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Short neck, Short greater sciatic notch, Flat aceta...	OMIM:256050
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Joint hypermobility, Arachnodactyly, Ventricular septal defect, Coarctation ...	ORPHA:261243
Sandhoff Disease, Infantile Form	Mitral regurgitation, Mitral valve prolapse, Cherry red spot of the macula	ORPHA:309155
Igg4-Related Kidney Disease	Pedal edema, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder infl...	ORPHA:449395
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
8Q22.1 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the maxilla, Finger syndactyly, Sandal gap, ...	ORPHA:178303
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Knee dislocation, Monkey wrench femoral neck...	OMIM:615777
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Bent Bone Dysplasia Syndrome 2	Webbed neck, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, F...	OMIM:620076
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger...	ORPHA:2990
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Short palm, Irregular capital femoral epiph...	OMIM:231050
Temporal Arteritis	Retinal arteritis	OMIM:187360
Greig Cephalopolysyndactyly Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre...	ORPHA:380
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphys...	OMIM:271530
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Umbilical hernia	OMIM:254120
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Kyphoscoliotic Ehlers-Danlos Syndrome	Myopathy, Arachnodactyly, Bicuspid aortic valve, Dextrocardia, Hip dislocation, Osteopenia, Atypi...	ORPHA:536545
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Mitral valve prolapse	ORPHA:90653
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Abnormal pulmonary interstitial morphology, Anasarca, Dilatation of the cere...	OMIM:613658
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, ...	OMIM:618944
Microlissencephaly	Pneumonia	ORPHA:1083
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Abnormal thorax morphology, Micrognathia, La...	ORPHA:1979
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Developmental And Speech Delay Due To Sox5 Deficiency	Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regurgitation, Vertebral fusi...	ORPHA:313892
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving...	OMIM:166300
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves...	OMIM:601186
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal tibi...	ORPHA:1335
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Kyphoscoliosis, Supraventric...	ORPHA:404443
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Ab...	ORPHA:2092
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
X-Linked Intellectual Disability, Stocco Dos Santos Type	Recurrent respiratory infections, Kyphosis	ORPHA:85288
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Lateral Meningocele Syndrome	Keloids, Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Inguinal her...	OMIM:130720
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature	OMIM:617069
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Stroke, Myocardial infarction	ORPHA:3325
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn...	OMIM:160565
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Abnormal dental enamel mo...	ORPHA:439822
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl...	ORPHA:1352
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in...	ORPHA:399086
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Foam cells, Tachypnea, Acute infectious pneumonia, Ta...	ORPHA:264675
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, Aortic dissection, Dila...	OMIM:300989
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Primary Sjögren Syndrome	Vasculitis, Usual interstitial pneumonia, Arteritis, Xerostomia, Bronchitis, Parotitis, Chronic a...	ORPHA:289390
Nocardiosis	Pneumonia, Thyroiditis, Brain abscess, Cutaneous abscess, Lymphadenitis, Keratitis, Emphysema, Ab...	ORPHA:31204
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Short finger, Elbo...	OMIM:608328
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart...	ORPHA:2347
Calciphylaxis	Cellulitis, Ectopic ossification, Arterial calcification	ORPHA:280062
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Takayasu Arteritis	Arteritis	OMIM:207600
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Renal tubular aci...	OMIM:613404
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Ehlers-Danlos Syndrome, Hypermobility Type	Mitral valve prolapse	OMIM:130020
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda...	ORPHA:1106
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chronic otitis media, A...	ORPHA:244
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Abnormal rib morphology, Abnormality of the vertebral column, Os...	ORPHA:1163
Isolated Agammaglobulinemia	Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Otitis...	ORPHA:229717
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Tracheomalacia, Eczematoid dermatitis, Umbilical hernia, Finger synda...	ORPHA:1001
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno...	ORPHA:1837
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Breast hypoplasia, Inguinal...	OMIM:181450
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr...	OMIM:603511
Fabry Disease	Nephropathy, Emphysema, Hypertrophic cardiomyopathy, Transient ischemic attack, Renal insufficien...	ORPHA:324
Meier-Gorlin Syndrome 4	Emphysema, Breast hypoplasia, Cryptorchidism	OMIM:613804
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Recurrent otitis media, Sacral dimple, Oligohy...	ORPHA:96170
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Mitral valve prolapse	OMIM:211960
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers	OMIM:609283
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Roifman Syndrome	Prominent eyelashes, Short toe, Irregular femoral epiphysis, Hip contracture, Single transverse p...	OMIM:616651
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Long thorax, Abnormal mitral valve morphology	ORPHA:1277
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Abnormality of the vertebral column, Abnormal heart morphology, Dilatation ...	ORPHA:85438
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Alkaptonuria	Aortic valve calcification, Limited hip movement, Thickened Achilles tendon, Intervertebral disk ...	OMIM:203500
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Emphysema, Pancytopenia, Pericardi...	OMIM:181000
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe...	OMIM:300718
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjuncti...	OMIM:607594
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse	OMIM:615539
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse	ORPHA:137834
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Bicuspid ao...	OMIM:265380
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis...	ORPHA:2302
Loeys-Dietz Syndrome	Arterial dissection, Pectus carinatum, Atypical scarring of skin, Scoliosis, Abnormal bleeding, A...	ORPHA:60030
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho...	OMIM:215150
Juberg-Hayward Syndrome	Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebrow morphology, Abnormality of t...	ORPHA:2319
Xp22.13P22.2 Duplication Syndrome	Recurrent upper respiratory tract infections, Small hand, Umbilical hernia, Congenital diaphragma...	ORPHA:284180
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy, Cartilage destruction	ORPHA:2380
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Cerebral calcification, Bowing of the long bones, Abnormal metaca...	ORPHA:628
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C...	OMIM:613530
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl...	OMIM:616052
Mucolipidosis Type Iii Alpha/Beta	Recurrent upper respiratory tract infections, Oligosacchariduria, Umbilical hernia, Keratan sulfa...	ORPHA:423461
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p...	OMIM:160500
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Recurrent respiratory infections, Scoliosis, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Alg9-Cdg	Hypoplasia of the musculature, Micrognathia, Ventricular septal defect, Low posterior hairline, S...	ORPHA:79328
Cutis Laxa, Autosomal Dominant 2	Scoliosis, Mitral regurgitation	OMIM:614434
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap...	OMIM:108720
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Recurrent shoulder dislocation, Mitral regurgitation, Dow...	OMIM:212112
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor...	ORPHA:2357
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal vertebral morphology, Prominent scalp veins, Subluxation of the s...	ORPHA:536471
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Recurrent bronchiolitis, Pustule, Coarctation of aorta, Polyhydramnios, Hype...	OMIM:616069
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm...	ORPHA:90308
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M...	OMIM:193400
Radiation Proctitis	Hematochezia, Arteritis, Abnormal vascular morphology, Abnormality of connective tissue, Abnormal...	ORPHA:70475
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti...	OMIM:300400
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot...	ORPHA:3097
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint stiffness, Joint hypermobility, Ventricular septal defect, Coarctation of aorta, Recurrent ...	OMIM:620210
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Mitral valv...	OMIM:619472
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness	ORPHA:309169
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def...	OMIM:620070
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Abnormal lung lobation, Joint stiffness, Abnormal aortic morpholo...	ORPHA:2516
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial...	ORPHA:99050
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Recurrent sinusitis, Mitral valve prolapse, Recurrent lower respiratory tra...	OMIM:130000
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Pulmonary fibrosis, Axial muscle atrophy, De...	ORPHA:254361
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros...	OMIM:609052
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Lack of skin elasticity, Joint contracture, Hepatomegaly, Scoliosis, Kyphosis	OMIM:615381
Epidermal Nevus Syndrome	Osteopenia, Aortic aneurysm, Thoracolumbar scoliosis, Lipoma, Rhabdomyosarcoma, Spinal canal sten...	ORPHA:35125
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ...	ORPHA:70588
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Short th...	OMIM:613686
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:608807
Kyphomelic Dysplasia	Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humerus, Femoral bowing, Micrognath...	OMIM:211350
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty...	OMIM:620246
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa...	OMIM:610099
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Scoliosis, Right ventricular dilatation, Myopathy	ORPHA:369847
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Stroke-like episode, Calf muscle hypertrophy, Pelvic girdle ...	ORPHA:263494
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Orthopne...	ORPHA:980
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr...	ORPHA:615
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn...	ORPHA:34515
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Fryns Syndrome	Abnormal aortic arch morphology, Short distal phalanx of finger, Narrow chest, Tetralogy of Fallo...	ORPHA:2059
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m...	OMIM:617638
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Sandal gap, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foram...	ORPHA:477817
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Mitral regurgitation, Prostatitis, Tendon rupt...	ORPHA:56
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Arteriovenous malformation, Skeletal muscle atrophy, Lipoma, Lymphedema, Subcutaneou...	ORPHA:109
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Chromosome 2Q37 Deletion Syndrome	Highly arched eyebrow, Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of...	OMIM:600430
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Short metatarsal, Narrow iliac wing, Coxa vara, Narrow...	OMIM:609162
Lethal Recessive Chondrodysplasia	Narrow chest, Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Short lo...	ORPHA:1423
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Criss-Cross Heart	Abnormal thorax morphology, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve...	ORPHA:1461
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Alopecia, Cutaneous abscess, Eczematoid dermatitis, Chron...	OMIM:618282
Hip Dysplasia, Beukes Type	Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy...	ORPHA:2114
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula...	ORPHA:171445
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Temtamy Syndrome	Aortic regurgitation, Aortic aneurysm, Brachydactyly, Short 2nd toe, Hip dislocation	OMIM:218340
Multiple Pterygium Syndrome, Escobar Variant	Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Arachnodactyly, Short neck...	OMIM:265000
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog...	ORPHA:1422
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, E...	ORPHA:391487
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu...	OMIM:614399
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Short metacarpal, Sparse scalp hair	ORPHA:2611
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Situs inversus...	ORPHA:991
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Trisomy 1Q	Abnormal rib morphology, Camptodactyly of finger, Increased nuchal translucency, Congenital diaph...	ORPHA:261344
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia...	OMIM:613848
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Larsen Syndrome	Hypoplastic cervical vertebrae, Ventricular septal defect, Beaking of vertebral bodies, Atrial se...	OMIM:150250
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, ...	ORPHA:261330
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Autoimmunity, Decreased circulating antibody level, Splenomega...	ORPHA:397596
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po...	ORPHA:781
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita...	OMIM:619167
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Dilatation of the renal pelvis, Lymp...	OMIM:619708
Myopathy, Myofibrillar, 8	Mitral regurgitation, Pectus excavatum, Scapular winging, Recurrent lower respiratory tract infec...	OMIM:617258
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger, Irregular epiphyses, Gen...	OMIM:222600
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Short toe, Short finger, Abnormal long bone morphology, R...	OMIM:259270
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Sparse lateral eyebrow, Fine hair, Cli...	OMIM:190350
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Anemia, Incre...	OMIM:620514
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a...	ORPHA:40
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Oligohydramnios, C...	ORPHA:1834
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Beaking of vertebral...	OMIM:108300
Omenn Syndrome	Pneumonia, Alopecia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, He...	ORPHA:39041
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Reduced renal corticomedullar...	OMIM:208085
Mucopolysaccharidosis, Type Vi	Pneumonia, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasia of the odon...	OMIM:253200
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Supernumerary nipple, Abnormal foot morphology, Microgna...	OMIM:263750
Merrf	Ragged-red muscle fibers, Myopathy	ORPHA:551
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Short 5...	OMIM:618569
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Abnormal pelvis bone morphology, Pleural effusion, Ecchymosis...	ORPHA:464329
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Cardiac arrest, Recurrent respiratory infe...	ORPHA:77260
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Mitral regurgitation, Vent...	ORPHA:99125
Distal Duplication 5Q	Absent thumb, Micrognathia, Hernia, Hypoplasia of the radius, Brachydactyly, Hypoplasia of the ulna	ORPHA:96097
Noonan Syndrome 2	Pectus carinatum, Cardiomyopathy, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Atrio...	OMIM:605275
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Tracheal calcification, Hypoplastic cervical vertebrae...	ORPHA:79345
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi...	OMIM:615067
Lowry-Maclean Syndrome	Osteopenia, Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia, Coar...	ORPHA:2409
Bardet-Biedl Syndrome 16	Bronchiolitis, Respiratory distress, Recurrent otitis media, Polydactyly, Recurrent respiratory i...	OMIM:615993
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Ethanolaminosis	Cardiomegaly	OMIM:227150
Nestor-Guillermo Progeria Syndrome	Thin ribs, Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, R...	OMIM:614008
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Upper eyelid edema, Congenital diaphragmatic hernia, Kyphoscoliosis, Hip dyspl...	ORPHA:412035
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte...	ORPHA:2299
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Platyspondyly, Aortic root aneurysm, Flared m...	OMIM:615349
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Webbed neck, Short femur, Thoracic hypoplasia, Flared metaphysis, Hypertrophic car...	OMIM:616897
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis of the capital fe...	OMIM:212720
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti...	OMIM:620025
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Absent nipple, Toe syndactyly, Rudimentary fibula, Elbow flexion contractur...	OMIM:200980
Noonan Syndrome 13	Mitral regurgitation, Mitral valve prolapse, Short neck, Atrial septal defect, Scoliosis, Enlarge...	OMIM:619087
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type...	OMIM:113000
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, S...	OMIM:615879
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio...	OMIM:620233
Hypochondroplasia	Flared metaphysis, Trident hand, Limited elbow extension, Aplasia/hypoplasia of the extremities, ...	OMIM:146000
Werner Syndrome	Abnormal hair whorl, Sparse scalp hair, Small hand, Skeletal muscle atrophy, Skin ulcer, Prematur...	ORPHA:902
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ...	OMIM:620011
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Atrial Septal Defect, Coronary Sinus Type	Arrhythmia, Unroofed coronary sinus, Abnormally loud pulmonic component of the second heart sound...	ORPHA:99104
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:613204
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad ribs, Lumbar hyperlordosis, Mitral regurgitation, Ventricular septal...	OMIM:277600
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Short 5th finger, Shortening of all distal phalanges of the toes, Nail dystrophy, Shortening of a...	OMIM:106995
Serkal Syndrome	Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, P...	ORPHA:139466
Noonan Syndrome 14	Aortic regurgitation, Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Short...	OMIM:619745
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy	OMIM:616471
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Grayish enamel, Micrognathia, Dec...	ORPHA:2980
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Hypove...	ORPHA:98915
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ...	ORPHA:93298
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Lymphedema-Hypoparathyroidism Syndrome	Mitral valve prolapse, Pulmonary lymphangiectasia	OMIM:247410
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Nemaline Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline...	OMIM:256030
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Roifman-Chitayat Syndrome	Short metatarsal, Cone-shaped epiphysis, Short metacarpal, Umbilical hernia	OMIM:613328
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Oligohydramnios, Bilateral lung agenesis, Congenital di...	OMIM:611812
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Cervical ...	OMIM:600001
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Autoimmunity, Impaired lymphocyte transformation ...	OMIM:617006
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Dysplasia of the femora...	ORPHA:93284
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis	OMIM:611225
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal form of the ve...	ORPHA:1486
Marinesco-Sjogren Syndrome	Cubitus valgus, Pes planus, Short metatarsal, Flexion contracture, Short metacarpal, Coxa valga	OMIM:248800
Diaphanospondylodysostosis	Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib...	ORPHA:66637
Immunodeficiency 27A	Pneumonia, Rheumatoid factor positive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased ...	OMIM:209950
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Pulmonary...	OMIM:178500
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Aortic root aneurysm, Periodontitis, Prominent veins on trunk, Mitral valve prolapse,...	ORPHA:536532
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Pectus carinatum, Recurrent pneumonia, Mitral regurgitation, Short neck, Scoliosis	OMIM:619750
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ...	OMIM:608940
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow chest, Aortic root aneurysm, Mitral valve prolapse, Scapular winging, Pectus excavatum, Hy...	OMIM:616914
Myopathy, Centronuclear, 5	Dilated cardiomyopathy, Mitral regurgitation	OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Mitral valve prolapse, Hemivertebrae, Pectus excavatum, Scoliosis, Patent ductus arteriosus	OMIM:104350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2671
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Sarcoidosis	Abnormal pleura morphology, Abnormal reproductive system morphology, Erythema nodosum, Tubulointe...	ORPHA:797
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pectus carinatum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardio...	OMIM:617506
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar...	OMIM:614185
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Cantu Syndrome	Platyspondyly, Narrow chest, Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity...	OMIM:239850
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Loeys-Dietz Syndrome 5	Pectus carinatum, Aortic root aneurysm, Spondylolisthesis, Patent foramen ovale, Kyphoscoliosis, ...	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Mitral valve prolapse, Hyperlordosis, Atrial septal defect, Scoliosis	OMIM:300986
X-Linked Centronuclear Myopathy	Pneumonia, Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial m...	ORPHA:596
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Kyphosis, Short thorax, Joint stiffness, ...	ORPHA:2655
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Mitral valve prolapse	OMIM:225310
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Oculofaciocardiodental Syndrome	Peripheral pulmonary artery stenosis, Mitral valve prolapse, Abnormal cardiac septum morphology, ...	ORPHA:2712
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:619220
Nemaline Myopathy 5C, Autosomal Dominant	Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,...	OMIM:620389
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Abnormal...	OMIM:230800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology, Coronary ar...	ORPHA:1192
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Overlapping...	OMIM:617022
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ...	OMIM:619648
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Cardiofaciocutaneous Syndrome 2	Mitral valve prolapse	OMIM:615278
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive...	ORPHA:911
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Microcephaly-Capillary Malformation Syndrome	Abnormal hair whorl, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atri...	OMIM:614261
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Premature graying of hair, Abnormal hair morph...	ORPHA:79474
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys...	OMIM:618019
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce...	OMIM:613642
Mucopolysaccharidosis Type 7	Arteriovenous malformation, Hepatitis, Anterior beaking of lower thoracic vertebrae, Umbilical he...	ORPHA:584
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, Limited elbow ...	OMIM:616723
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Isolated Klippel-Feil Syndrome	Webbed neck, Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septa...	ORPHA:2345
Antisynthetase Syndrome	Lack of skin elasticity, Myositis, Myocarditis, Abnormal pulmonary interstitial morphology, Recur...	ORPHA:81
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Arrhythmia, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Noonan Syndrome 3	Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:609942
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clino...	OMIM:614813
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,...	ORPHA:171430
Perching Syndrome	Respiratory distress, Camptodactyly, Scoliosis, Joint contracture	OMIM:617055
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot...	ORPHA:99147
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopath...	ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Pectus carinatum, Aortic root aneurysm, Secundum atrial septal defect, Clinodac...	OMIM:619910
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Right ventricular dilatation, Bronchiectasis	OMIM:619705
Autosomal Dominant Spastic Paraplegia Type 4	Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Urinary bladder sphincter dy...	ORPHA:100985
Prune Belly Syndrome	Congenital hip dislocation, Tetralogy of Fallot, Oligohydramnios, Aplasia of the abdominal wall m...	ORPHA:2970
Tonne-Kalscheuer Syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Pulmonary hypoplasia	OMIM:300978
Brittle Cornea Syndrome 1	Scoliosis, Spondylolisthesis, Mitral valve prolapse	OMIM:229200
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Respiratory distress, Polyhydramnios, Joint hypermobility,...	ORPHA:2759
Diaphanospondylodysostosis	Unossified sacrum, Tracheomalacia, Thoracic hypoplasia, Respiratory distress, Bell-shaped thorax,...	OMIM:608022
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Skeletal muscle...	OMIM:620278
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Scoliosis, Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Atopic dermatitis, Toe syndactyly, Scoliosis, Absence of the pulmonary val...	OMIM:601808
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Sandal gap, Short tibia, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Scoliosis, Mitral regurgitation, Mitral valve prolapse	OMIM:258450
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Seckel Syndrome 9	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s...	OMIM:616777
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Scedosporiosis	Pneumonia, Unusual skin infection, Bronchitis, Osteomyelitis, Abnormal renal morphology, Arthralg...	ORPHA:449280
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Short neck, Arrhythmia, At...	ORPHA:254346
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Atelectasis, Abnormal hair morphology, Increased circulating IgE level, Os...	ORPHA:2314
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Molluscum contagiosum...	OMIM:243700
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short n...	ORPHA:93299
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Proximal muscle weakness in...	ORPHA:280633
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec...	OMIM:615504
Systemic Lupus Erythematosus, Susceptibility To, 6	Abnormal renal physiology, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positiv...	OMIM:609939
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ...	OMIM:226990
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Spl...	OMIM:615513
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Syncope, Abnormal...	ORPHA:60032
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor...	OMIM:313850
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor...	OMIM:100800
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Bulging epiphyses, Rickets of the lower limbs, Genu va...	OMIM:600785
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Reduced bone mineral density, Inguinal hernia, Brachydactyly, Short femoral nec...	OMIM:618392
Arthrogryposis, Distal, Type 12	Thoracic kyphosis, Scoliosis, Mitral valve prolapse, Spinal rigidity	OMIM:620545
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Slender long bone, Micrognathia, Clinodactyly of the 5th toe, Short p...	OMIM:170390
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook,...	OMIM:617895
Cohen Syndrome	Genu valgum, Thick eyebrow, Micrognathia, Single transverse palmar crease, Narrow palm, Cubitus v...	OMIM:216550
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Pulmonary Hypertension, Primary, 1	Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,...	OMIM:178600
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Abnormal aortic arch morphology, Small hand, Hip dislocation, Short...	ORPHA:1596
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Narrow chest, Anisospondyly, Abnormal ...	ORPHA:2484
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Radial devia...	OMIM:211750
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal th...	ORPHA:94065
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Aplasia/Hy...	ORPHA:90153
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Eosin...	OMIM:609192
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ...	OMIM:619903
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Bruising susceptibility, Vascular dilatation, Varicose veins, Pulmonic stenosis	OMIM:618343
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Cherry red spot of the macula, Fo...	OMIM:230650
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil...	ORPHA:2255
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Respiratory distress, Ascites, Pleural effusio...	ORPHA:2414
Opitz Gbbb Syndrome	Aortic root aneurysm, Tracheomalacia, Umbilical hernia, Abnormal heart morphology, Congenital dia...	ORPHA:2745
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si...	ORPHA:217390
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur...	ORPHA:486
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Pleuritis, Malar rash, Antinuclear antibody ...	OMIM:152700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Hip contracture, S...	OMIM:615290
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy	OMIM:545000
Mucopolysaccharidosis-Plus Syndrome	Macroglossia, Recurrent pneumonia, Nephritis, Pectus carinatum, Congestive heart failure, Hypertr...	OMIM:617303
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities	OMIM:609452
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Opsismodysplasia	Metaphyseal cupping, Hypoplasia of the odontoid process, Rhizomelia, Hypoplastic vertebral bodies...	OMIM:258480
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of the great arteri...	OMIM:619657
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect	ORPHA:2143
Farber Disease	Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Short toe, Atelectasis, Ch...	ORPHA:333
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Supern...	OMIM:613309
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Enamel hypoplasia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:103580
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me...	OMIM:613330
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Pleural effusion, Leukocytosis, Pulmonary edema, Abnormal renal tu...	ORPHA:188
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc...	ORPHA:90650
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Pleural effusion, Otitis media, Increa...	ORPHA:3392
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Skin rash, Joint swelli...	OMIM:612852
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Narrow chest, Cardiomyopathy, R...	ORPHA:576
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Respirat...	OMIM:618188
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorchidism, Glandular hy...	OMIM:300219
Alport Syndrome	Nephritis, Renal glomerular foam cells, Abnormal aortic morphology, Recurrent bronchitis, Aortic ...	ORPHA:63
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Wiedemann-Steiner Syndrome	Small hand, Long hallux, Contracture of the distal interphalangeal joint of the fingers, Microgna...	OMIM:605130
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi...	OMIM:300835
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Rhizomelia, Short thumb, Camptodactyly of finger, Inguinal her...	OMIM:166250
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Limitation of joint mobility, Kyphosis, Increased nuchal translucenc...	ORPHA:93274
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu...	OMIM:616501
Acrofacial Dysostosis, Palagonia Type	Small hand, Sparse lateral eyebrow, Finger syndactyly, Thin eyebrow, Micrognathia, Low anterior h...	ORPHA:1787
Sialidosis Type 2	Pectus carinatum, Skeletal muscle atrophy, Umbilical hernia, Ascites, Inguinal hernia, Short thor...	ORPHA:87876
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep...	OMIM:618280
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen...	OMIM:617300
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ...	OMIM:300580
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Waardenburg Syndrome Type 3	White hair, Atelectasis, Camptodactyly of finger, Thick eyebrow, Atrial septal defect	ORPHA:896
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp...	ORPHA:169160
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Recurrent pneumonia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyse...	OMIM:602271
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Right ventricular dilatation	ORPHA:422
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Wide distal femoral metaphysi...	OMIM:613320
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Generalized hir...	OMIM:612949
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of...	OMIM:613390
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Limitation of joint mobility, Recurrent otitis media, Congenital d...	ORPHA:363528
Hunter-Macdonald Syndrome	Aortic regurgitation, Pectus carinatum, Mitral regurgitation, Mitral valve prolapse, Hypertension...	OMIM:611962
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Breast aplasia, Abnormal morphology of t...	ORPHA:3138
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Phenobarbital Embryopathy	Tetralogy of Fallot, Abnormal mitral valve morphology	ORPHA:1919
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Upper limb muscle weakness, Lower limb muscle weakness, Aspira...	ORPHA:90117
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Lamellar Ichthyosis	Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Recurrent respiratory infec...	ORPHA:313
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa...	OMIM:123320
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Short neck, Spin...	OMIM:620369
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Hydrocele testis, Pulmonar...	OMIM:145420
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, External gen...	ORPHA:1867
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Tracheal calcification, Supernumerary vertebral ossifi...	OMIM:215140
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Pleural effusion, Cryptorchidism, Polyuria, Pericar...	OMIM:618183
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Situs inversus totalis, Chronic bronchi...	OMIM:615482
Meier-Gorlin Syndrome 6	Umbilical hernia, Decreased response to growth hormone stimulation test, Emphysema, Cryptorchidis...	OMIM:616835
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma...	ORPHA:93267
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia,...	OMIM:618454
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr...	OMIM:619126
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Striae distensa...	ORPHA:1248
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency, Lower limb muscle weakness	OMIM:613364
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atr...	ORPHA:254875
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pel...	OMIM:616300
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Congenital diaphragmatic hernia, Hernia, Arachnodactyly, Short hal...	ORPHA:280
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal...	ORPHA:1329
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Fg Syndrome Type 1	Abnormal sternum morphology, Mitral valve prolapse, Coarctation of aorta, Pulmonary arterial hype...	ORPHA:93932
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Shprintzen-Goldberg Syndrome	Pectus carinatum, Narrow chest, Abnormal form of the vertebral bodies, Mitral regurgitation, Abno...	ORPHA:2462
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Kyphoscoliosis, Ventricular sept...	OMIM:608149
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Classic Phenylketonuria	Microcephaly, Hypopigmentation of hair, Lack of skin elasticity	ORPHA:79254
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals...	OMIM:277950
Sillence Syndrome	Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ...	ORPHA:3168
Aymé-Gripp Syndrome	Limitation of joint mobility, Pericardial effusion, Clinodactyly of the 5th finger, Abnormal thor...	ORPHA:1272
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Micrognathia, Sparse eyel...	OMIM:250410
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Skeletal muscle atrophy, Subdural hemorrhage, Kyphosis, Overlapping f...	OMIM:618291
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Vasculitis, Inflammation of the large intestine, Craniofacial oste...	ORPHA:324964
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Broad foot, Short ri...	OMIM:250420
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metacarpa...	ORPHA:2370
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Mitochondrial Myopathy, Infantile, Transient	Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss...	OMIM:500009
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal trabeculariza...	ORPHA:2780
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Recurrent otitis media, Cerebral calcification, Barrel-shaped chest, Increa...	OMIM:607944
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder, Lower limb muscle weakness, Skeletal muscle atrophy	ORPHA:488594
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multipl...	ORPHA:86822
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Mitral valve prolapse	ORPHA:98
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog...	OMIM:193670
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis, Dyspnea	ORPHA:70578
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Increased connective tissue, Rectus femoris muscl...	ORPHA:98905
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Congenital diaphragmatic hernia, Vertebral segmentation defect, Ventricular septal de...	OMIM:612530
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Broad clavicles, Abnormal epiphysis...	ORPHA:50945
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial insta...	OMIM:183900
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising suscept...	OMIM:130060
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Abnormal femur morphology, Congenital diaphragmatic hernia, Inguinal hern...	ORPHA:2063
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre...	OMIM:608681
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Chronic sinusitis, Chronic ...	OMIM:244400
Hurler Syndrome	Aortic regurgitation, Hypoplasia of the odontoid process, Cardiomyopathy, Endocardial fibroelasto...	OMIM:607014
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Chitayat Syndrome	Tracheomalacia, Abnormal pulmonary interstitial morphology, Respiratory distress, Hallux valgus, ...	OMIM:617180
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid ...	ORPHA:363958
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Mitral regurgitation,...	OMIM:157800
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,...	ORPHA:353327
Steinfeld Syndrome	Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ...	OMIM:184705
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, Recurrent otiti...	OMIM:618523
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Umbilical hernia, Limited elbow flexion,...	OMIM:258315
Leopard Syndrome 1	Pectus carinatum, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch...	OMIM:151100
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septal def...	OMIM:614294
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Platyspondyly, Broad clavicles, Aortic regurgitation, Broad ribs, Thickene...	OMIM:619698
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy	OMIM:611615
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucen...	ORPHA:453499
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Polyhydramnios, C...	ORPHA:887
Coffin-Siris Syndrome 3	Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, Central diaphragmatic...	OMIM:614608
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short clavicles, Short 4th metacarpal, Microretrognathia	OMIM:606220
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased urinary urate, Recurrent upper respiratory tract infections, Impaired T cell...	OMIM:613179
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
8P11.2 Deletion Syndrome	Mitral valve prolapse, Supernumerary ribs, Atrial septal defect, Patent ductus arteriosus, Sacral...	ORPHA:251066
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcut...	OMIM:608612
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Shock, Respiratory distress, Tachypnea, Dyspnea, Abnormal...	ORPHA:178320
Frank-Ter Haar Syndrome	Broad clavicles, Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect,...	OMIM:249420
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:98855
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Small hand, Upper limb undergrowth, Respiratory di...	OMIM:608799
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Mgat2-Cdg	Osteopenia, Abnormal bleeding, Kyphosis, Respiratory distress, Abnormal heart morphology, Ventric...	ORPHA:79329
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i...	OMIM:106700
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Abnormal sternum morphology, Respiratory distress, Broad ribs, Short rib...	ORPHA:2519
Spinal muscular atrophy, type I, with congenital bone fractures	Generalized amyotrophy, Osteopenia, Congenital hip dislocation, Generalized edema, Decreased musc...	OMIM:271225
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Autoimmu...	OMIM:615952
Myasthenic Syndrome, Congenital, 12	Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy	OMIM:610542
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t...	OMIM:610978
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Cantú Syndrome	Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Ovoid...	ORPHA:1517
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Aplasia of the left hemidiaphragm, 2-3 fin...	ORPHA:2437
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Tracheomalacia, Congenital diaphragmatic hernia, Inguinal hernia, Joint hy...	ORPHA:96121
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Hurler-Scheie Syndrome	Aortic regurgitation, Mitral regurgitation, Pulmonary arterial hypertension, Recurrent respirator...	OMIM:607015
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Vertebral s...	ORPHA:1926
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Micrognathia, Inguinal hernia, Absent eyelashes, Metaphyseal chondrodysplasia, Hallux v...	ORPHA:166035
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Proteus Syndrome	Pulmonary cyst, Rib exostoses, Arteriovenous malformation, Finger syndactyly, Decreased muscle ma...	ORPHA:744
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced subcutane...	OMIM:617403
Congenital Myopathy With Myasthenic-Like Onset	Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu...	ORPHA:424107
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Omphal...	ORPHA:3186
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Oligohydramnios, Left ventricular hypertrophy, Flexion contracture, Hyperte...	OMIM:616733
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Inguinal hernia,...	OMIM:618363
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi...	OMIM:615139
Baralle-Macken Syndrome	Striae distensae, Hirsutism, Microcephaly, Kyphosis, Tapered finger	OMIM:619255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Pyelonephritis, Oligohydramnios, Peritonitis, Thoracic aortic aneurysm, Elev...	OMIM:619351
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh...	OMIM:600373
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal...	OMIM:614302
Ollier Disease	Platyspondyly, Skin ulcer, Abnormal cartilage morphology, Multiple enchondromatosis, Abnormal met...	ORPHA:296
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage co...	OMIM:610910
Flynn-Aird Syndrome	Skeletal muscle atrophy, Atherosclerosis, Joint stiffness, Cerebral calcification, Scoliosis, Bon...	ORPHA:2047
Atelosteogenesis, Type Iii	Tombstone-shaped proximal phalanges, Rhizomelia, Radial bowing, Sandal gap, Elbow dislocation, Kn...	OMIM:108721
Blau Syndrome	Posterior uveitis, Keratitis, Limitation of joint mobility, Xerostomia, Camptodactyly of finger, ...	ORPHA:90340
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Recurrent skin infections, Autoimmune hemolyti...	OMIM:616576
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Thin ribs, Congenital contracture, Subdural hemorrhag...	OMIM:615368
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Tracheomalacia, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:268249
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu...	ORPHA:2032
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Reduced natural killer cell count, Recurrent upper respiratory tract infection...	OMIM:619752
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Phace Association	Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br...	OMIM:606519
Auriculoosteodysplasia	Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormality of the wrist, Abnormal metacarpa...	ORPHA:114
Cri-Du-Chat Syndrome	Microretrognathia, Premature graying of hair, Inguinal hernia, Single transverse palmar crease, P...	OMIM:123450
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Fucosidosis	Dry skin, Barrel-shaped chest, Beaking of vertebral bodies, Absent/hypoplastic coccyx, Hepatomega...	OMIM:230000
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria	OMIM:222100
Coccidioidomycosis	Morbilliform rash, Abnormal metacarpal morphology, Erythema nodosum, Pleural empyema, Vasculitis,...	ORPHA:228123
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Kyphosis, Joint stiffness, Femoral bowing, Increas...	ORPHA:1860
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Coarctation of aorta, Abnormal rib morphology	ORPHA:280195
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Short finger, Sclerosis of skull base, Knee flexion contracture,...	OMIM:313420
Alagille Syndrome	Clinodactyly of the 5th finger, Micrognathia, Short distal phalanx of finger, Hypoplasia of the ulna	ORPHA:52
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal rib morphology, Spinal c...	ORPHA:582
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Inguinal hernia, Horizontal ribs, Coarctation of aorta, Pulmonary arterial hy...	OMIM:614857
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Ascending tubular aorta aneurysm, Joint hypermobility, Arachnodactyly, Ventricular s...	OMIM:309520
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:607855
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Pericardial effusion, Bronchiectasis	ORPHA:411703
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Increased connective tissue...	ORPHA:238329
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Kyphosis, Bowing of limbs due to mult...	OMIM:259440
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Seckel Syndrome 10	Acute pancreatitis, Ventricular hypertrophy, Cone-shaped epiphysis, Slender long bone, Congestive...	OMIM:617253
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Emphysema, Abnormal heart morphology, Transient i...	ORPHA:500150
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnorm...	ORPHA:261197
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Hypoplastic scapulae, Congenital diaphragmatic hernia, Short clavicles	OMIM:618022
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Relapsing Polychondritis	Hematuria, Scleritis, Inflammatory abnormality of the eye, Alopecia, Renal insufficiency, Abnorma...	ORPHA:728
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp...	ORPHA:98863
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Kyphosis, Dislocation of the femoral head, Apnea, S...	OMIM:619797
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Felty Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Autoimmu...	ORPHA:47612
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, A...	ORPHA:36238
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Ventricular septal defect, Atrial septal defect, Thr...	OMIM:620184
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Brachydactyly, Enamel hypoplasia, Short metacarpal	OMIM:612462
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Polyphagia, Obesity, Hyperinsulinemia	OMIM:617885
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Edema, Pedal edema	OMIM:152800
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity...	OMIM:618495
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Striae distensae, Distal lower limb amyotrophy, Brachydactyly, Macrogloss...	OMIM:300354
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Radial bowing, Slender long bone, Femoral bowing, Inguinal hernia, Tib...	OMIM:610915
Bardet-Biedl Syndrome 17	Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextr...	OMIM:615994
Oculocerebrocutaneous Syndrome	Missing ribs, Congenital diaphragmatic hernia, Abnormal rib morphology	ORPHA:1647
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:98853
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Left superior vena cava draining to coronary ...	OMIM:306955
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, At...	OMIM:618870
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Congenital diaphragmatic hernia, Ventricular septa...	OMIM:154400
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema, Varicose veins	ORPHA:97330
Nager Syndrome	Aplasia/Hypoplasia of the radius, Micrognathia, Abnormality of the lower limb, Aplasia/Hypoplasia...	ORPHA:245
Short Stature, Brussels Type	Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Calcification of cartilage, Mac...	ORPHA:2867
Spastic Paraplegia 31, Autosomal Dominant	Distal amyotrophy, Skeletal muscle atrophy, Urinary urgency, Lower limb muscle weakness	OMIM:610250
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Bell-sh...	ORPHA:485
Turnpenny-Fry Syndrome	Aortic regurgitation, Pectus carinatum, Narrow chest, Recurrent respiratory infections, Lumbar hy...	OMIM:618371
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal stippling, Hypoplasti...	OMIM:101800
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Kyphomelic Dysplasia	Narrow chest, Abnormal form of the vertebral bodies, Micrognathia, Undulate ribs, Bowing of the l...	ORPHA:1801
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Atrial septal defect, Cryptorchidism, Stillbirth	OMIM:304120
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cor pulmonale, Recurrent pneumonia, Alopecia, Coarse hair, Chronic mucocutaneous candi...	OMIM:158310
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy...	ORPHA:1041
Keutel Syndrome	Short distal phalanx of finger, Alopecia, Soft, doughy skin, Calcification of cartilage, Recurren...	ORPHA:85202
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid regurgitation, Mitral regurgitation, Tricuspid valve prolapse, Pectus excavatum, Scoliosis	ORPHA:1101
Jansen-De Vries Syndrome	Small hand, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Brachydactyly, Short...	OMIM:617450
Tetrasomy 5P	Congestive heart failure, Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, ...	ORPHA:3309
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Short metacarpal, Hammertoe	ORPHA:773
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Dilatation of the cerebral artery, Mitral valve prolapse, Abnormal systemic...	ORPHA:730
Xq28 (MECP2) duplication	Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig...	DECIPHER:45
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Legius Syndrome	Abnormal sternum morphology, Mitral valve prolapse, Paroxysmal atrial tachycardia, Non-small cell...	ORPHA:137605
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Short sternum, Omph...	OMIM:222448
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ankle clonus	OMIM:615398
Gm1 Gangliosidosis	Cherry red spot of the macula, Aspiration pneumonia, Ventricular septal defect, Patent ductus art...	ORPHA:354
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Short neck, Scoliosis, Ascendi...	ORPHA:444072
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pectus carinatum, Recurrent upper respiratory tract infections, Secundum atrial septal defect, Re...	OMIM:612541
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s...	OMIM:200600
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased...	OMIM:310300
Tibial Hemimelia	Absent tibia	OMIM:275220
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ...	ORPHA:228116
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Spastic Paraplegia 72A, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:615625
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Type 2 mus...	OMIM:613845
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Vasculitis, Granuloma, Hepatitis, Systemic lupus erythematosus...	ORPHA:1855
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti...	ORPHA:2879
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Recurrent pneumonia, Hypoplasia of the odontoid process, Cervical spinal ...	ORPHA:508533
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Holoprosencephaly	Abnormal form of the vertebral bodies, Tetralogy of Fallot, Abnormal pulmonary valve morphology, ...	ORPHA:2162
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, 11 pairs of ribs, Polyhydramnios, Short neck, Camptodactyly, Rocker bott...	OMIM:618393
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:616963
Schisis Association	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63862
Rothmund-Thomson Syndrome	Sparse eyebrow, Aplasia/Hypoplasia of the radius, Short thumb, Abnormal dental enamel morphology,...	ORPHA:2909
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Cerebral calcification, Esophagitis, Genu valgum, Humerus var...	ORPHA:198
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d...	OMIM:267010
Yellow Nail Syndrome	Lymphedema, Hypoplasia of lymphatic vessels, Rhinitis, Pulmonary arterial hypertension, Sinusitis...	ORPHA:662
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun...	ORPHA:276
Fusariosis	Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia...	ORPHA:228119
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Short 2nd...	OMIM:600987
Sheldon-Hall Syndrome	Webbed neck, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morph...	ORPHA:1147
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect	ORPHA:3405
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myosi...	ORPHA:36234
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Adducted th...	OMIM:620269
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig...	OMIM:254210
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Increased circulating interleukin 10 concentration, Howell-Jolly bodies	OMIM:613759
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Recurrent respi...	OMIM:241500
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Kyphosis, Inguinal hernia, Bowing of the long bo...	ORPHA:61
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex...	ORPHA:171433
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi...	OMIM:614524
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Scoliosis, K...	OMIM:254090
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria	OMIM:143880
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Hyper...	ORPHA:2260
Variant Abeta2M Amyloidosis	Arthralgia of the hip, Abnormal vascular morphology, Pathologic fracture, Reduced left ventricula...	ORPHA:314652
X Small Rings	Toe syndactyly, Aortic root aneurysm, Upper limb undergrowth, Clinodactyly of the 5th finger, Oli...	ORPHA:96201
Trisomy 13	Abnormal pelvic girdle bone morphology, Narrow chest, Kyphosis, Ectrodactyly, Abnormal lung lobat...	ORPHA:3378
Mucolipidosis Ii Alpha/Beta	Abnormal rib cage morphology, Atlantoaxial dislocation, Recurrent pneumonia, Hypoplasia of the od...	OMIM:252500
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Abnormal metacarpal morphology, H...	ORPHA:1452
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Distal Triplication 15Q	Kyphosis, Abnormal sternum morphology, Abnormal heart morphology, Hernia, Arachnodactyly, Atrial ...	ORPHA:314588
Vascular Ehlers-Danlos Syndrome	Cryptorchidism, Mitral valve prolapse, Pulmonary artery aneurysm, Arteriovenous fistulas of celia...	ORPHA:286
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac...	OMIM:616470
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Lujo Hemorrhagic Fever	Oliguria, Atelectasis, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Skin rash, Mac...	ORPHA:319213
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Craniofrontonasal Syndrome	Abnormal rib cage morphology, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Br...	OMIM:304110
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Congenital diaphragmatic hernia, Short ribs, Atrial septal defec...	OMIM:616546
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal undertubulation, Macrocephaly	ORPHA:1513
Thakker-Donnai Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Cervical C2/C3 v...	ORPHA:1780
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Congenital diaphragmatic hernia, Ventricular septal defect, Arrhythmia, 2-3 finger s...	OMIM:312870
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Sho...	OMIM:620438
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Pectus carinatum, Platyspondyly, Cardiomyopathy, Aspiration ...	ORPHA:79255
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode...	OMIM:605809
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:250999
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Radio-Tartaglia Syndrome	Highly arched eyebrow, High anterior hairline, Retrognathia, Striae distensae, Long eyelashes, Dr...	OMIM:619312
Cardiomyopathy, Familial Restrictive, 6	Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,...	OMIM:272460
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, ...	OMIM:618323
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Abnormal rib morphology, Cerebral calcification, Tibial bowing, Lower limb undergr...	ORPHA:3035
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Bicuspid aortic valve, Atrial septal defect, Patent ductus a...	OMIM:612289
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short hallux, Clinod...	ORPHA:2662
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Eczematoid dermatitis, Facial myokymia, Hip dysplasia, Kyphosis	OMIM:620007
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Osteoporosis, Recurrent aspiration pneumonia	OMIM:619971
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Osteopenia, Abnormal heart morphology, Nocturnal hypoventilation, In...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Osteopenia, Abnormal heart morphology, Nocturnal hypoventilation, In...	ORPHA:352665
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Congestive...	OMIM:166210
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Bowing of limbs due to multipl...	OMIM:259420
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Mucopolysaccharidosis, Type Iiid	Recurrent upper respiratory tract infections, Mitral regurgitation, Thoracic scoliosis, Pilonidal...	OMIM:252940
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac...	OMIM:620161
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Ky...	ORPHA:394
Intellectual Developmental Disorder, Autosomal Dominant 73	Toe clinodactyly, Narrow chest, Recurrent otitis media, Lumbar hyperlordosis, Limited elbow exten...	OMIM:620450
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin...	OMIM:613205
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pus...	ORPHA:139402
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Scoliosis, Mitral regurgitation, Right bundle branch block	OMIM:619576
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Mic...	ORPHA:740
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Rhinitis...	OMIM:615500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Intellectual Developmental Disorder, Autosomal Dominant 62	Arachnodactyly, Striae distensae, Scoliosis	OMIM:618793
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly,...	OMIM:252920
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Impaire...	OMIM:608184
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear...	OMIM:230500
Kabuki Syndrome	Short 5th finger, Small hand, Abnormal form of the vertebral bodies, Short middle phalanx of fing...	ORPHA:2322
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Bruising susceptibility, Apnea, Abnormal metaphysis ...	ORPHA:667
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Congenital diaphragmatic hernia, Patent foramen oval...	OMIM:616364
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Respiratory distress, Myopathy, Low-output congestive heart failure	ORPHA:91130
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumo...	OMIM:263000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Respiratory distress, Stroke, Pancreatitis, Dehydration	ORPHA:79312
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Dilatatio...	ORPHA:73263
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Melnick-Needles Syndrome	Hypoplastic scapulae, Narrow chest, Anterior concavity of thoracic vertebrae, Mitral valve prolap...	OMIM:309350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Genu valgum, Myopathy, Short neck, Genu varum, Hi...	ORPHA:171436
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Scoliosis, Kyphosis, Pectus excavatum	ORPHA:276630
Meckel Syndrome 14	Tricuspid regurgitation, Mitral regurgitation, Short neck, Pneumothorax, Single ventricle, Pulmon...	OMIM:619879
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop...	ORPHA:98897
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Congenital diaphragmatic hernia, Atria...	OMIM:614080
Transaldolase Deficiency	Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Hydrops fe...	ORPHA:101028
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septa...	ORPHA:818
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Right at...	OMIM:616028
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Ch...	OMIM:616037
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Spondyloocular Syndrome	Platyspondyly, Pectus carinatum, Mitral valve prolapse, Atrial septal defect, Shield chest, Dyspl...	OMIM:605822
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Recurrent otitis media, Genu va...	OMIM:253220
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Sho...	OMIM:228520
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Inflammation of the large intestine, Partial absence of specif...	OMIM:618108
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology, Abnormal lung lobation, Abnormal EKG, Abnorm...	ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Pulmon...	OMIM:614096
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Ehlers-Danlos Syndrome, Classic-Like, 1	Quadricuspid aortic valve, Mitral valve prolapse	OMIM:606408
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Foot dorsiflexor weakness, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy	OMIM:617087
Primary Erythromelalgia	Vasculitis, Recurrent respiratory infections	ORPHA:90026
Immunodeficiency 23	Allergic rhinitis, Aortic root aneurysm, Eczematoid dermatitis, Chronic mucocutaneous candidiasis...	OMIM:615816
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Scoliosis, Kyphosis	ORPHA:261250
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Skeletal muscle atrophy, Decreased proportion of CD4-positive T cells	ORPHA:477814
Ciliary Dyskinesia, Primary, 37	Goiter, Situs inversus totalis, Right aortic arch, Dextrocardia, Bronchiectasis	OMIM:617577
Shashi-Pena Syndrome	Highly arched eyebrow, Hypertrichosis, Long eyelashes, Deep palmar crease, Short metacarpal, Syno...	OMIM:617190
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Histiocytosis-Lymphadenopathy Plus Syndrome	Facial telangiectasia, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Pulmonary ...	OMIM:602782
Weismann-Netter Syndrome	Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Left ven...	ORPHA:746
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp...	ORPHA:90060
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sy...	OMIM:617877
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy, Cardiomyopathy	ORPHA:26792
Say Syndrome	Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Micrognathia, Tapered finger	OMIM:181180
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Pectus excavatum, Recurrent respiratory infections, S...	ORPHA:261349
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Dextrocardia...	OMIM:614679
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Sparse eyebrow, Skeletal muscle atrophy, Hyperextensible skin, Sparse eyel...	ORPHA:75496
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, R...	ORPHA:454836
Cornelia De Lange Syndrome 1	Pneumonia, Finger aplasia, Elbow flexion contracture, Hypoplastic radial head, Limited elbow exte...	OMIM:122470
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, Er...	ORPHA:3260
Esophageal Atresia	Abnormal vertebral morphology, Bronchitis, Clinodactyly, Tetralogy of Fallot, Respiratory distres...	ORPHA:1199
Kawasaki Disease	Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:2331
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Adult-Onset Still Disease	Hepatitis, Leukocytosis, Splenomegaly, Interstitial pneumonitis, Skin rash, Proteinuria, Hepatome...	ORPHA:829
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi...	ORPHA:95699
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal...	ORPHA:3426
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Abnormal diaphysis morphology...	ORPHA:192
Achondroplasia	Hip joint hypermobility, Rhizomelia, Trident hand, Limited elbow extension, Knee joint hypermobil...	ORPHA:15
Nicolaides-Baraitser Syndrome	Dry hair, Broad 2nd toe, Low posterior hairline, Absent eyebrow, Sparse hair, Short metacarpal, S...	OMIM:601358
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Congenital Myopathy 24	Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance, Scapular winging	OMIM:617336
Stiff Skin Syndrome	Lack of skin elasticity	ORPHA:2833
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Limb hypertonia, Recurrent ...	OMIM:619170
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Kyphosis, Abnormal heart valv...	ORPHA:583
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom...	OMIM:620376
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Webbed neck, Keloids, Broad thumb, Finger clinodactyly, Elbow contrac...	OMIM:617137
Gaucher Disease, Type Iii	Vascular calcification	OMIM:231000
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Parotiti...	ORPHA:31202
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Abnormal pleura morphol...	ORPHA:183
Zttk Syndrome	Unilateral renal agenesis, Sparse eyebrow, Horseshoe kidney, Absent gallbladder, Ventricular sept...	OMIM:617140
Perlman Syndrome	Interrupted aortic arch, Ascites, Congenital diaphragmatic hernia, Polyhydramnios, Hypoplasia of ...	OMIM:267000
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Short neck, Short foot, Patent ductus arteriosus...	OMIM:269860
Cohen Syndrome	Mitral valve prolapse, Ventricular septal defect, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:193
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Genu valgum, Bell-shaped thorax, Short ribs...	ORPHA:1803
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,...	ORPHA:17
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Premature graying of hair, Abnormal hand morphology, Short phalanx of finger, Broad f...	OMIM:300845
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Abnormal ...	ORPHA:2097
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Pectus carinatum, Hypertrophic cardiomyopathy, Respiratory distress, Overlapping toe, Overlapping...	OMIM:619383
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Patent foramen ovale, M...	OMIM:617402
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micrognathia, Micro...	ORPHA:2522
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Recurrent otitis media, Abnormal heart morphology, Overlapping toe, Ove...	OMIM:618494
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr...	ORPHA:7
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Broad thumb, Abnormal aortic morphology, Short neck, Clinodactyly of the ...	ORPHA:2001
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea	ORPHA:1832
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Hematuria, Increased ...	ORPHA:48435
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Bronchiect...	OMIM:615481
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Situs inversus totalis, Otitis media, Chronic bronchitis, Chron...	OMIM:613807
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid factor positive	ORPHA:85435
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Limitation of joint mobility, Mitral valve prolapse, Arachnodactyly, Arrhyt...	ORPHA:285
Mulibrey Nanism	Dental malocclusion, Cardiomegaly, Thickened cortex of long bones, Absent frontal sinuses, Perica...	OMIM:253250
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Long eyelashes, Acetabular dysplasia, Short metacarp...	OMIM:201180
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Low posterior hairline, Post...	OMIM:617925
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Abnormal dental enamel morphology, Alopecia totalis, Metaphyseal sclerosis, ...	ORPHA:221016
Mucolipidosis Iii Gamma	Aortic valve stenosis, Pectus carinatum, Aortic regurgitation, Short neck, Hyperlordosis, Shoulde...	OMIM:252605
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin	ORPHA:319552
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne...	ORPHA:94068
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Abnormal dental enamel morphology, Alopecia totalis, Metaphyseal sclerosis, ...	ORPHA:221008
Tuberous Sclerosis Complex	Respiratory distress, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Respiratory tract infe...	ORPHA:805
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Polyuria	OMIM:620152
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Tracheomalacia, Cardiomyopathy, Clinodactyly, Respiratory distress, Hernia, Short n...	OMIM:217980
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Panbronchiolitis, Diffuse	Bronchiectasis, Foam cells	OMIM:604809
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Scoliosis, Clinodactyly	OMIM:300934
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Alopecia totalis, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, T...	OMIM:263650
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Atelectasis, Eczematoid dermat...	OMIM:306400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Basal Ganglia Calcification, Idiopathic, 1	Basal ganglia calcification, Calcification of the small brain vessels, Cerebellar dentate nucleus...	OMIM:213600
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Decreased circulating IgG level, Atelectasis, Pulmonary fibrosis, Hepato...	OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Respiratory distress, Stroke-like episode, Inguinal hernia, Pulmonary ar...	OMIM:619272
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media	OMIM:614017
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Thic...	OMIM:122860
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Long eyelashes, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Cuti...	OMIM:619451
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl...	ORPHA:254864
Matthew-Wood Syndrome	Abnormal lung morphology, Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:2470
Restrictive Dermopathy	Thin ribs, Osteopenia, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Mu...	ORPHA:1662
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphopenia, Decreased circulating IgA le...	ORPHA:331206
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Elbow flexion cont...	OMIM:259450
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones, Micrognathia,...	OMIM:224400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon...	ORPHA:723
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi...	OMIM:614702
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Sparse hair, Enamel hypoplasia, Syndactyly	OMIM:613576
Baller-Gerold Syndrome	Radial deviation of the hand, Absent thumb, Patellar hypoplasia, Carpal synostosis, Oligodactyly,...	OMIM:218600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi...	OMIM:300755
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri...	OMIM:613751
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu...	ORPHA:261183
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Thin eyebrow, Ulnar deviation of th...	OMIM:616145
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Ventricular septal de...	ORPHA:1507
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Autoimmunity, Renal insufficiency, Arthritis, Flexion contracture, Pulmonary fibrosis	ORPHA:220393
Craniorachischisis	Bifid sternum, Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Inflammatory abnormality of the skin, ...	ORPHA:26793
Infantile Sialic Acid Storage Disease	Fair hair, Abnormal thorax morphology, Splenomegaly, Cardiomegaly, Hepatomegaly, Metaphyseal irre...	OMIM:269920
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu...	OMIM:620285
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test,...	OMIM:603467
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Hydr...	OMIM:150230
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ...	ORPHA:178148
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept...	ORPHA:373
Cerebellofaciodental Syndrome	Short neck, Scoliosis, Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Normocytic anemia, Pneumonia, Cardiomyopathy, Skin rash, Punctate vasculitis skin le...	ORPHA:247691
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Umbilical hernia, Joint stiffness, Inguinal hernia,...	OMIM:252900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Inguinal hernia, Joint hypermobility, Edema of the dor...	ORPHA:544503
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormal rib morphology, Oligohydramnios, Brachydactyly, Split hand, Aplasia/H...	ORPHA:2145
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Abnormal lung morphology, Abnormal lung lobation, Respirat...	ORPHA:141127
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Broad long bones, Aplasia/Hypoplasia involving the pelvis, Facial hir...	ORPHA:163654
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Nipah Virus Disease	Respiratory distress, Hypotension, Infectious encephalitis, Recurrent pharyngitis	ORPHA:99825
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Lumbar hemivertebrae, Hypoplasia of the musculature, Small hypothenar eminence, Thin m...	ORPHA:2463
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Lower limb muscle weakness	ORPHA:2590
Dahlberg-Borer-Newcomer Syndrome	Mitral valve prolapse	ORPHA:1563
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ...	ORPHA:429
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly, Abnormal rib morphology, Recurre...	ORPHA:2643
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic rhinitis, Dextrocard...	OMIM:611884
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronch...	OMIM:613193
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Contractures of the large joints, Respiratory distress, Polyhydramnios, Recurrent res...	ORPHA:329178
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventric...	ORPHA:57777
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand...	ORPHA:329478
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Recurrent respirator...	OMIM:612650
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni...	OMIM:619334
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Chronic ...	OMIM:613808
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Osteopenia, Narrow chest, Hypoplastic pulmonary veins, Absent pulmonar...	OMIM:610682
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Aortic root aneurysm, Eczematoid dermatitis, Prominent fingertip...	OMIM:610443
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Autoimmunity, Decreased pro...	ORPHA:83471
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy	OMIM:618242
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pleural effusion, Skin rash, Pulmonary edema, Increased inflammatory respons...	ORPHA:542323
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect	OMIM:616589
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease	OMIM:218550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Urinary retention, Recurrent respiratory infections, Panh...	ORPHA:79124
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Neutropenia, Sparse hair, Hypospadias, Bronchiectasis	OMIM:618253
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Pectus excavatum, Mitral valve prolapse	OMIM:618874
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Ventricular s...	OMIM:602535
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Brain abscess, Anuria, Septic arthritis, Pleuritis, Leu...	ORPHA:544482
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Mosaic Trisomy 16	Short forearm, Clinodactyly, Short thumb, Abnormal heart morphology, Abnormal thorax morphology, ...	ORPHA:1708
Sotos Syndrome	Small cell lung carcinoma, Cryptorchidism, Hip contracture, Ventricular septal defect, Atrial sep...	ORPHA:821
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ...	ORPHA:33110
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Brittle Cornea Syndrome	Pulmonic stenosis, Scoliosis, Mitral valve prolapse	ORPHA:90354
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Generalized amyotrophy, Ragged-red muscle fibers, Respiratory distress	OMIM:613561
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Hip dislocation, Respiratory distress, Joint hypermobility, Postaxial polydactyly, At...	OMIM:300968
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe	OMIM:140850
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal rib morphology, Sp...	ORPHA:3068
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media	OMIM:617092
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99413
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse hair, Sparse eyebrow, Absent nipple, Branchial cyst, Nail dystrophy, Patent foramen ovale,...	OMIM:620186
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99226
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Congenital diaphragmatic hernia, Polydactyly, Apical muscular ventricular...	OMIM:301022
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:881
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Autoimmunity, Re...	ORPHA:79128
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Tricu...	OMIM:601776
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Rhinitis...	OMIM:615444
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni...	ORPHA:590
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Occipital Horn Syndrome	Genu valgum, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited knee extension, ...	OMIM:304150
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Rhinitis, Bronchie...	OMIM:618063
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Leopard Syndrome 3	Tetralogy of Fallot, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Short ne...	OMIM:613707
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Dilatation of the cerebral artery, Arterial rupture, M...	ORPHA:287
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria	OMIM:560000
Intellectual Developmental Disorder, Autosomal Dominant 21	Coarctation of aorta, Patent ductus arteriosus, Sacral dimple, Atrial septal defect	OMIM:615502
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Kyphosis	OMIM:618237
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Geroderma Osteodysplasticum	Platyspondyly, Hypoplasia of the maxilla, Premature skin wrinkling, Abnormal hair morphology, Fem...	OMIM:231070
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Short phalanx of finger, Complete duplication ...	ORPHA:59315
Fibrodysplasia Ossificans Progressiva	Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Abnormality ...	OMIM:135100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis...	ORPHA:226313
Lymphatic Malformation 13	Mitral regurgitation, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect...	OMIM:620244
Noonan Syndrome 9	Short neck, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormality of the ...	ORPHA:793
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Rhinitis...	OMIM:614935
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Microscopic Polyangiitis	Vasculitis, Uveitis, Oliguria, Autoimmunity, Renal insufficiency, Episcleritis, Skin rash, Hematu...	ORPHA:727
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Cholera	Acute kidney injury, Aspiration pneumonia, Stroke, Decreased urine output, Hyperventilation, Abno...	ORPHA:173
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypospadias, Recurrent pneumonia, Sparse eyebrow, Highly arched eyebrow, Recurrent urinary tract ...	OMIM:619293
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed proximal femor...	ORPHA:93296
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Aortic rupture, Atlantoaxial instability, Tricuspid regurgitation, Mitral regurgitation, Kyphosco...	OMIM:614557
Benign Samaritan Congenital Myopathy	Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers	ORPHA:324581
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metacarpal, Short 5th metaca...	ORPHA:79444
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Diaphyseal undertub...	ORPHA:175
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge...	OMIM:609560
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Fliedner-Zweier Syndrome	Joint hypermobility, Ventricular septal defect, Bicuspid aortic valve, Hallux valgus, Pectus exca...	OMIM:620511
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Decreased response to growt...	OMIM:307200
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Microg...	ORPHA:93346
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ...	OMIM:301044
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Respiratory distress, Atrioventricular canal defect, Horizon...	OMIM:617088
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Kyphosis, Sacral dimple	OMIM:618272
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Atrial septal defect	ORPHA:1915
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Metaphy...	OMIM:260400
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ...	ORPHA:70
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Webbed neck	OMIM:601355
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Short neck, Short hallux, Dysplastic aortic valve, Hypoplastic aortic ...	ORPHA:508488
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Situs inversus totalis, Otitis media, Dextrocardia, Sinusitis, Recurrent re...	OMIM:606763
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Muscular dystrophy, Atelectasis, Absent muscle fiber merosin, Cardiomyopathy, Muscl...	ORPHA:258
Cockayne Syndrome Type 3	Vascular calcification, Cerebellar dentate nucleus calcification, Aortic root aneurysm, Subdural ...	ORPHA:90324
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Immunodeficiency 44	Lymphopenia	OMIM:616636
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Short foot, Scoliosis, Kyphosis	OMIM:300434
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries, Scoliosis	ORPHA:293181
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Coarctation of aorta, Brachydactyly, Pectus excavatum, Double aorti...	OMIM:616954
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Short distal phalanx of finger, Short fourth metatarsal, Umbilical hernia,...	OMIM:618143
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Joint stiffness, Kyphoscoliosis, Hernia, Ovoid thor...	OMIM:252930
Nephrosialidosis	Ascites, Bone-marrow foam cells, Pericardial effusion	OMIM:256150
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Renpenning Syndrome	Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Thin eyebrow, Clinodactyly of t...	ORPHA:3242
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m...	OMIM:606721
Omenn Syndrome	Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, ...	OMIM:603554
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Cardi...	ORPHA:93473
Lymphoid Interstitial Pneumonia	Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
White Forelock With Malformations	Spina bifida occulta, Sprengel anomaly, Atrial septal defect, Abnormal rib morphology	ORPHA:2475
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla...	ORPHA:570
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval, Kyphosis	OMIM:619040
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Microangiopathic hemolytic anemia, Ulcerative colitis, U...	ORPHA:810
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca...	OMIM:119600
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Decreased muscle mass, Horseshoe kidney, Abnormal heart mo...	ORPHA:2953
Hamamy Syndrome	Prolonged QRS complex, Mitral regurgitation, Complete atrioventricular canal defect, Down-sloping...	OMIM:611174
Diets-Jongmans Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Joint hypermobility, Ventricu...	OMIM:618846
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Joint con...	OMIM:615919
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Umbilical hernia, Joint hypermobility, Arachnodactyly, Adducted thumb, Shou...	ORPHA:2181
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Shock, Palpitatio...	ORPHA:340
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers...	OMIM:615084
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs	OMIM:617405
Familial Cervical Artery Dissection	Striae distensae, Facial palsy, Thin skin	ORPHA:36382
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Fine hair, Polydactyly, Bowing ...	OMIM:614091
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Stroke, Cerebral ischemia, Respiratory distress	ORPHA:927
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Brachydactyly, Abnormal cardiac septum morphology, Postaxial han...	ORPHA:2075
Mosaic Trisomy 14	Narrow chest, Abnormal rib morphology, Camptodactyly of finger	ORPHA:1703
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Nocturnal hypoventil...	OMIM:607155
Neuromyelitis Optica Spectrum Disorder	Optic neuritis, Myelitis, Functional abnormality of the bladder, Autoimmune antibody positivity	ORPHA:71211
Noonan Syndrome	Radioulnar synostosis, Arrhythmia, Atrial septal defect, Patent ductus arteriosus, Osteopenia, Pe...	ORPHA:648
Pseudo-Torch Syndrome 2	Thin ribs, Secundum atrial septal defect, Ascites, Cerebral hemorrhage, Cerebral calcification, P...	OMIM:617397
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Dystonia 31	Abnormal posturing	OMIM:619565
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Schwartz-Jampel Syndrome	Genu valgum, Myopathy, Hip contracture, Bowing of the long bones, Arrhythmia, Sprengel anomaly, S...	ORPHA:800
Chops Syndrome	Coarse hair, Aspiration pneumonia, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesicouretera...	OMIM:616368
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Short finger, Amyoplasia, Hypoplastic heart, Micrognathia, Vertebral fusion, Abnormal ...	OMIM:312150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria	OMIM:618314
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ventricular septal defect, At...	OMIM:135900
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Abnormal bleeding, Hepatitis, Cardiomyopathy, Respiratory distress, P...	ORPHA:292
Pelizaeus-Merzbacher Disease	Arteriovenous malformation, Joint stiffness, Recurrent respiratory infections, Scoliosis, Kyphosis	ORPHA:702
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel ...	ORPHA:2180
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, V...	OMIM:235510
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
Hall-Riggs Syndrome	Platyspondyly, Enamel hypoplasia, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, ...	OMIM:234250
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Alopecia, Glycosuria, Systemic lupus erythematosus, Leukopenia, Autoimmunit...	ORPHA:2298
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Trichohepatoenteric Syndrome 1	Thrombocytosis, Splenomegaly, Increased mean platelet volume	OMIM:222470
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Lary...	ORPHA:100057
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Lumbar scoliosis, Short neck, Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Irre...	ORPHA:99646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga	OMIM:601370
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Abnormal lung lobation, Ve...	OMIM:300514
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Scapular winging, Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse	OMIM:607459
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Pectus carinatum, Ventricular hypertrophy, Aortic root aneurysm, Tracheomalacia, Umbilical hernia...	OMIM:620654
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short humerus, Brachydactyly, Panniculitis, Short metacarpal	ORPHA:508542
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Supernumerary rib...	OMIM:619127
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Frontal upswee...	OMIM:266920
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Hyperlordosis,...	OMIM:300831
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Ventricular septal defect, Radio...	OMIM:134780
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Aspiration pneumonia	ORPHA:79264
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Leukopenia, Hemolytic anemia, Autoimmunity, Splenomegaly, Skin rash, Myosi...	ORPHA:809
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Widely spaced toes, Cervical spinal...	OMIM:301900
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr...	ORPHA:401768
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda...	OMIM:217085
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Chylothorax, Mitral regurgitation, Bicuspid aortic valve, Short neck, Pect...	OMIM:613563
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Eczematoid dermatitis, Umbilical hernia, A...	ORPHA:352490
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease	OMIM:614230
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Apnea, Increased nucha...	ORPHA:1052
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Biventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val...	OMIM:616462
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br...	OMIM:252600
Costello Syndrome	Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:218040
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascites...	OMIM:226300
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:616756
Pandas	Recurrent streptococcus pneumoniae infections, Enuresis	ORPHA:66624
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia	OMIM:267430
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Trisomy 18	Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:3380
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ...	OMIM:255200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Narrow chest, Congestive heart failure, Respiratory distress, Recurrent otitis med...	OMIM:616482
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Hirsutism, Short clavicles, Pes planus, Short long ...	ORPHA:370930
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Abnormal vertebral morphology, Hypoplastic left heart, Tetralogy of Fallot...	ORPHA:210122
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Hip dislocation, Thin metacarpal cortices, Decreased mu...	OMIM:616507
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Skeletal muscle atrophy, Facial diplegia, Short neck, Hip dysplasia, Rocker bottom foo...	OMIM:611890
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Meso...	OMIM:146510
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Myopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia...	ORPHA:169090
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Hand muscle atrophy, Dy...	OMIM:211530
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Abnormal heart morphology, Hyp...	ORPHA:314655
Alpha-Mannosidosis, Adult Form	Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Macroglossia	ORPHA:309288
Radio-Renal Syndrome	Chylothorax, Abnormal form of the vertebral bodies, Respiratory distress, Pleural effusion, Short...	ORPHA:3015
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu...	ORPHA:79404
Rafiq Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Clinodactyly of the 5th finger, Ma...	OMIM:614202
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Kyphoscoliosis, Coarctation of aorta, Abnormal finger morph...	OMIM:163200
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Ar...	ORPHA:217085
Holzgreve Syndrome	Joint stiffness, Oligohydramnios, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacar...	ORPHA:2167
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Hemophagocytosis, Fasci...	ORPHA:39812
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir...	OMIM:187760
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy, Stroke-like episode	OMIM:540000
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Coarctation of aorta, Sprengel anomaly, D...	OMIM:618929
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ov...	ORPHA:221120
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infectio...	OMIM:620197
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Umbilical hernia, Atrophic scars, Micrognathia, Inguinal hernia, Hirsutism, Limb under...	OMIM:225410
Multicentric Osteolysis, Nodulosis, And Arthropathy	Vertebral compression fracture, C1-C2 subluxation, Mitral valve prolapse, Kyphoscoliosis	OMIM:259600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Diastasis recti, Ventricular se...	ORPHA:254534
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Congenital diaphragmatic hernia, Bri...	OMIM:305600
Dysosteosclerosis	Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver...	OMIM:224300
Digeorge Syndrome	Recurrent otitis media, Ovarian cyst, Ventricular septal defect, Renal dysplasia, Patent ductus a...	OMIM:188400
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Halperin-Birk Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Perimembranous ventricular se...	OMIM:618651
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Vascular calcification, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Calcinosis	OMIM:211900
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio...	ORPHA:133
Riddle Syndrome	Enuresis nocturna, Pneumonia, Recurrent pneumonia, Decreased circulating IgG level, Bronchitis, D...	ORPHA:420741
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Becker Nevus Syndrome	Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios...	ORPHA:64755
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Short finger, Amyoplasia, Hypoplastic heart, Micrognathia, Vertebral fusion, Abnormal ...	OMIM:253290
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal n...	ORPHA:1018
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers...	ORPHA:352447
Spinocerebellar Ataxia Type 25	Urinary urgency, Facial myokymia	ORPHA:101111
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia...	OMIM:181405
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, Recurrent upper respiratory tract infections, Aortic isthmus hypoplasia, ...	OMIM:180849
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Kleefstra Syndrome	Limitation of joint mobility, Tracheomalacia, Tetralogy of Fallot, Ventricular septal defect, Her...	ORPHA:261494
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Flexion contracture, Abnormal medullary pyramid morphology, Ventr...	ORPHA:79243
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Ar...	ORPHA:217093
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Synovitis...	ORPHA:499009
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Mandibular prognathia, Abnormal epiphysis morphology, Abnormal f...	ORPHA:2078
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Talipes equinovarus, Short long bone	OMIM:618845
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Prolonged bleeding time, Bruising susceptibility, Decrea...	OMIM:616229
15Q Overgrowth Syndrome	Abnormal sternum morphology, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hy...	ORPHA:314585
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Recurrent pneumonia, Pectus carinatum, Finger syndactyly, Clinodacty...	ORPHA:464738
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature	OMIM:618416
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Abnormal rib morphology	ORPHA:93941
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Respiratory distress, ...	ORPHA:367
Helsmoortel-Van Der Aa Syndrome	Abnormal heart morphology, Heart murmur, Mitral regurgitation, Mitral valve prolapse, Hyperlordos...	OMIM:615873
Methimazole Embryofetopathy	Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect	ORPHA:1923
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi...	OMIM:264700
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger	OMIM:222748
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ...	ORPHA:57
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone concentr...	ORPHA:97287
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Aortic valve stenosis, Craniofacial hyperostosis, Cerebral calcification...	ORPHA:2396
Van Maldergem Syndrome 2	High anterior hairline, Cutaneous syndactyly of toes, Clinodactyly, Cutaneous finger syndactyly, ...	OMIM:615546
Sweet Syndrome	Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L...	ORPHA:3243
Bloom Syndrome	Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, O...	ORPHA:125
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Atopic dermatitis, Vasculitis, Hepatitis, Hypertrophic cardiomyopa...	OMIM:615846
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy	ORPHA:369840
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha...	OMIM:184460
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Kyphoscoliosis, Macrocephaly	OMIM:300886
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o...	OMIM:620099
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Acute rhabdomyolysis, ...	ORPHA:48431
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k...	ORPHA:567
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Right aortic arch, Situs inversus totalis, Patent foramen ovale, Cardiomegal...	OMIM:620642
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:363558
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vert...	ORPHA:89936
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Sialidosis Type 1	Pectus carinatum, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Cherry red spot...	ORPHA:812
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, La...	OMIM:619269
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metaca...	ORPHA:79443
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Scoliosis, Congenital contracture	OMIM:615042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Choanal Atresia	Tracheomalacia, Respiratory distress, Chronic sinusitis, Polydactyly, Craniosynostosis, Recurrent...	ORPHA:137914
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Aspiration pneumonia, Genu valgum, Abnormal mitral valve morphology, G...	ORPHA:581
Subaortic Stenosis-Short Stature Syndrome	Short neck, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Scol...	ORPHA:3191
Robinow Syndrome, Autosomal Dominant 3	Webbed neck, Broad thumb, Clinodactyly, Long eyelashes, Micrognathia, Brachydactyly, Omphalocele,...	OMIM:616894
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty...	OMIM:612921
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi...	OMIM:616866
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Recurrent otitis media, Rhabdomy...	OMIM:614921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Abnormal rib morphology, Ventricular septal defect	ORPHA:2772
Mirage Syndrome	Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Decreased te...	OMIM:617053
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Biconcave vertebral bodies, Ecchymosis, Hirsutism, Fac...	OMIM:219090
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ...	OMIM:220111
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff...	ORPHA:743
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Absent eyelashes, Ventral hernia, Hypoplastic nipple...	OMIM:200110
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Narrow chest, Pectus excavatum, Scoliosis, Kyphosis	OMIM:300676
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Short neck, Atrial septal defect, Patent duc...	OMIM:612474
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent...	OMIM:300166
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Osteomyelitis,...	OMIM:619475
Klippel-Feil Syndrome 1, Autosomal Dominant	Webbed neck, Congenital muscular torticollis, Low posterior hairline, Cervical C2/C3 vertebral fu...	OMIM:118100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology, Macrocephaly	ORPHA:1506
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Respiratory distress, Cerebellar hemorrhage, Pancreatitis, Tubulointerstitial nep...	OMIM:251000
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Clinodactyly, Abnormal lung lobation, Clinodactyly of the 5th finger, Ventr...	OMIM:614114
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Decreased skull ossification, Hernia, Bowing of the long bo...	ORPHA:955
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Absent thumb, Short thumb, Short 1st metacarpal	OMIM:609053
Van Maldergem Syndrome 1	Clinodactyly, Abnormal foot morphology, Cutaneous finger syndactyly, Micrognathia, Short clavicle...	OMIM:601390
Alpha-Mannosidosis, Infantile Form	Genu valgum, Mitral regurgitation, Myopathy, Short neck, Bilateral coxa valga, Hypoplastic inferi...	ORPHA:309282
Autosomal Recessive Progressive External Ophthalmoplegia	Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,...	ORPHA:254886
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople...	OMIM:252011
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Ankle flexion contracture, Absent thumb, Clinodactyly, Radial deviation of finger...	OMIM:268300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i...	ORPHA:567546
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Polyuria, Calcinosi...	OMIM:239200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Dysostosis, Stanescu Type	Macroglossia, Abnormal epiphysis morphology, Kyphosis, Massively thickened long bone cortices, Ab...	ORPHA:1798
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat...	OMIM:194050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral b...	ORPHA:3079
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Immunodeficiency 56	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto...	OMIM:615207
Mercury Poisoning	Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension	ORPHA:330021
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Tetralogy of Fallot, Stippled calcification proximal hume...	OMIM:222765
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Hypertension, Congenital diaphragmatic hernia, Neonatal death	OMIM:194080
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Nephronophthisis 11	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Alg1-Cdg	Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy	ORPHA:79327
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Bowing of the long bones, Abnorma...	ORPHA:90652
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Increased adipose tissue around the neck, Insulin-resistant diabetes...	ORPHA:435660
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Microcephaly, Macrocephaly, Facial hypotonia, Hip dysplasia	OMIM:618798
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, A...	OMIM:614866
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Kyphosis	ORPHA:319199
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal mitral valve morphology, Arrhythmia, Abnormal heart morpho...	ORPHA:580
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Micrognathia, Hirsutism, Sho...	ORPHA:1865
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Bicuspid aortic ...	ORPHA:508498
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Webbed neck, Micrognathia, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments...	OMIM:602196
White-Sutton Syndrome	Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ventral hernia, Faci...	ORPHA:468678
Radial-Renal Syndrome	Absent thumb, Absent radius	OMIM:179280
Erdheim-Chester Disease	Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Pleural effusion, Abnormal a...	ORPHA:35687
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla...	OMIM:139210
Hypothyroidism, Congenital, Nongoitrous, 5	Mitral regurgitation, Patent foramen ovale	OMIM:225250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Arteria lusoria, Short distal phalanx of the thumb, C...	ORPHA:221139
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Diastasis recti, Inguinal hernia, Wrist flexion contractur...	ORPHA:254528
Atrial Standstill 2	Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Abnormal scapula morphology, Congenital diaphragmatic hernia, Perip...	OMIM:273395
Ctcf-Related Neurodevelopmental Disorder	Pulmonary hemorrhage, Mitral regurgitation, Coarctation of aorta, Pulmonary arterial hypertension...	ORPHA:363611
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Renal tubular acidosis, Organic aciduria, Aspiration pneumonia	ORPHA:431361
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi...	OMIM:277440
Lymphedema-Distichiasis Syndrome	Cellulitis, Predominantly lower limb lymphedema, Chylothorax, Kyphosis, Lymphedema, Tetralogy of ...	OMIM:153400
Limb Body Wall Complex	Progressive congenital scoliosis, Broad hallux, Thoracic hypoplasia, Abnormality of the vertebral...	ORPHA:2369
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Thi...	OMIM:616294
Tarp Syndrome	Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Short sternum...	OMIM:311900
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Sandal gap, Joint hypermobility, Ventricular septal defect, Bicuspid aortic...	OMIM:616652
Spastic Paraplegia 12, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:604805
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Ventricular septal defect, Short neck, Thoracolumbar scoliosis, Pectus excav...	OMIM:300472
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi...	ORPHA:169186
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Skeletal muscle atrophy, Glycosuria,...	OMIM:219800
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Micrognathia, Bilateral single transvers...	ORPHA:264200
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Mogs-Cdg	Alopecia, Fair hair, Retrognathia, Long eyelashes, Hepatosplenomegaly, Overlapping fingers, Hirsu...	ORPHA:79330
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Coronary artery stenosis, Cardiomyopathy, ...	ORPHA:565612
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Hypertrophic cardiomyopathy, Respiratory distress, Respiratory tract infection, Sho...	ORPHA:308552
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Ventricular septal...	OMIM:616268
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media...	ORPHA:906
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Congenital diaphragmatic hernia, V...	OMIM:601803
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Aortic valve stenosis, Abnormal aortic arch morphology, Abnor...	ORPHA:2306
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta, Prolonged prothromb...	OMIM:614300
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly, Cone-shaped ...	OMIM:615630
Spastic Paraplegia 13, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:605280
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus, Secundum atrial septal defect, Kyphosis, Ventricular septal defect	OMIM:619909
Spastic Paraplegia 19, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:607152
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Vasculitis, Skin rash	OMIM:601979
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Cardiomyopathy, Bundle bra...	ORPHA:93672
Cryptococcosis	Pneumonia, Respiratory distress, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusi...	ORPHA:1546
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Coarctation of aorta, Tapered fi...	OMIM:617159
Toxic Epidermal Necrolysis	Abnormality of the urethra, Abnormal vagina morphology, Abnormal pleura morphology, Renal insuffi...	ORPHA:537
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Rhabdomyolysis, Polyuria, Nocturia, Renal potas...	OMIM:263800
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Abnormal posturing	OMIM:304700
ERI1-related disease	Platyspondyly, Pectus carinatum, Narrow chest, Abnormal heart morphology, Tricuspid regurgitation...	OMIM:608739
Complement Factor I Deficiency	Vasculitis, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Sept...	OMIM:610984
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Congenital Toxoplasmosis	Hepatomegaly, Microcephaly, Cardiomegaly	ORPHA:858
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, Patent foramen ovale, Adducted thumb, Atrial septal...	ORPHA:89844
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung, Abnormal skeletal muscle morphology	ORPHA:142
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Kyphosis, Lipoatrophy, Sh...	ORPHA:2617
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis	ORPHA:505652
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis	OMIM:125800
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Occipital meningocele, Renal sodium wasting, He...	OMIM:243910
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis	OMIM:304800
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Combined Oxidative Phosphorylation Deficiency 25	Pectus carinatum, Intraventricular hemorrhage, Syndactyly, Aspiration pneumonia	OMIM:616430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Varicose v...	ORPHA:500095
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
X-Linked Mandibulofacial Dysostosis	Pectus excavatum, Pulmonic stenosis, Abnormality of the pulmonary artery, Abnormal mitral valve m...	ORPHA:1131
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Sandal gap, Kyphosis, Camptodactyly of finger, Secundum atrial ...	OMIM:619951
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Decreased circulating IgG2 level	OMIM:300076
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Sandal gap, Clinodactyly of the 5th finger, Ventricular septal defect, 2-3 toe syndacty...	OMIM:617061
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Stevens-Johnson Syndrome	Abnormality of the urethra, Recurrent respiratory infections, Abnormal pleura morphology, Renal i...	ORPHA:36426
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Foam cells, Dyspnea, Clubbing	ORPHA:747
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il...	OMIM:300863
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviati...	OMIM:609128
Immunodeficiency 12	Recurrent aphthous stomatitis, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Macrocephaly, Hepatomegaly	ORPHA:42
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, L...	ORPHA:79085
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert...	ORPHA:119
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Dyspnea, Right-to-left shunt, Tongue tel...	OMIM:610655
Autosomal Dominant Spastic Paraplegia Type 13	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	ORPHA:100994
Cockayne Syndrome	Vascular calcification, Cerebellar dentate nucleus calcification, Retinal arteriolar constriction...	ORPHA:191
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad...	ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy	OMIM:616974
Gaucher Disease, Perinatal Lethal	Thoracic hypoplasia, Retrognathia, Hepatosplenomegaly, Micrognathia, Petechiae, Splenomegaly, Car...	OMIM:608013
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,...	ORPHA:2008
H Syndrome	Alopecia, Bronchiectasis, Hypertrichosis, Microcytic anemia, Decreased testicular size, Hepatospl...	ORPHA:168569
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent otitis media, Overlapping toe, Short neck, Sprengel anomaly, Beaking of vertebral bodie...	OMIM:213980
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe...	ORPHA:206569
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc...	OMIM:620305
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad...	ORPHA:249
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Respiratory distress, Elbow fl...	ORPHA:3206
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Tracheomalacia, Respiratory distress, Situs inversus totalis, Poly...	OMIM:202650
Stickler Syndrome	Platyspondyly, Pectus carinatum, Abnormal form of the vertebral bodies, Spinal canal stenosis, Sp...	ORPHA:828
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Thoracic hypoplasia, Recurrent respiratory infections, Small cervical vert...	ORPHA:397715
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ...	ORPHA:85184
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Distal amyotrophy, Hyperextensible skin, Cutis laxa, Adducted thumb, ...	OMIM:219150
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ...	OMIM:123000
Fountain Syndrome	Facial edema, Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabe...	ORPHA:3219
Spastic Paraplegia 3, Autosomal Dominant	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, ...	OMIM:182600
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Recurrent pneumonia, Broad distal phalanx of finger, Narrow chest...	OMIM:614378
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy	OMIM:602541
Wieacker-Wolff Syndrome	Hip dislocation, Distal amyotrophy, Narrow chest, Scoliosis, Kyphosis, Apnea, Short neck, Hyperlo...	OMIM:314580
Scarf Syndrome	Webbed neck, Pectus carinatum, Abnormal form of the vertebral bodies, Diastasis recti, Low poster...	ORPHA:3134
Congenital Fiber-Type Disproportion Myopathy	Hypoplasia of the musculature, Aspiration pneumonia, Micrognathia, Hip contracture, Flexion contr...	ORPHA:2020
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Ventricular septal defect, Arachnodactyly, Atrial...	OMIM:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Respiratory distress...	OMIM:604377
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Scoliosis	ORPHA:3137
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Alopecia, Abnormal hair morphology...	ORPHA:90154
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Spastic Paraplegia Type 7	Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype...	ORPHA:99013
Succinic Acidemia	Respiratory distress	OMIM:600335
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Umbilical hernia, Ivory epiphyses of the distal phalanges of t...	OMIM:136140
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Cardiom...	ORPHA:289157
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepato...	OMIM:256550
De Barsy Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Decreased muscle mass, Excessive wrinkled ...	ORPHA:2962
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Basal ganglia calcification, Cerebral calcification, Finger joint hypermobility, Cerebral edema, ...	OMIM:620371
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting	OMIM:612780
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Lower limb hypertonia	OMIM:610246
Bruck Syndrome	Platyspondyly, Kyphosis, Joint stiffness, Bowing of the long bones, Osteoporosis, Scoliosis, Arth...	ORPHA:2771
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm...	ORPHA:49041
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Respiratory distress, Prolonged...	OMIM:616271
Spastic Paraplegia 8, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:603563
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Vasculitis, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Skin rash, Orchi...	ORPHA:32960
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla...	ORPHA:397744
Spastic Paraplegia 6, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:600363
Transaldolase Deficiency	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of ...	OMIM:606003
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Micrognathia, Knee flexion contracture, Hip contracture, Bowing of the long ...	OMIM:156400
Au-Kline Syndrome	Aortic root aneurysm, Sacral dimple, Overlapping toe, Clinodactyly of the 5th finger, Vertebral s...	OMIM:616580
Cog1-Cdg	Posterior rib gap, Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Ky...	ORPHA:263508
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, P...	ORPHA:2215
Rheumatic Fever	Epistaxis, Abnormal heart valve morphology, Abnormal pleura morphology, Abnormal aortic valve mor...	ORPHA:3099
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Keloids, Scoliosis, Slender long bone, Cervical ribs, ...	OMIM:601812
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Alopecia, Decreased response t...	ORPHA:293978
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Aortic root aneurysm, Cardiomyopathy, Umbilical hernia, Aortic ar...	OMIM:135500
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Respiratory distress, Abnormal heart morphology, Overlapping toe, Clino...	ORPHA:177907
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Spontaneous pneumothorax, Recurrent pneumonia, Recurrent urinary t...	ORPHA:731
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bow...	OMIM:617952
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recu...	OMIM:619381
Monosomy 9P	Limitation of joint mobility, Abnormality of the vertebral column, Abnormal rib morphology, Abnor...	ORPHA:261112
Malaria	Respiratory distress	ORPHA:673
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Acquired Methemoglobinemia	Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia	ORPHA:464453
Lethal Acantholytic Erosive Disorder	Natal tooth, Congenital alopecia totalis, Absent hair, Cardiomyopathy, Camptodactyly of toe, Abse...	ORPHA:158687
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Missing ribs, Aplasia/Hypoplasia...	ORPHA:3301
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Urinary urgency, Arthritis	ORPHA:320365
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scolio...	ORPHA:3454
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:607565
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Congestive heart failure, Aspiration pneumonia, Abnormal heart morphology, ...	ORPHA:444077
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat...	OMIM:600460
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Atelosteogenesis Type I	Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ...	ORPHA:1190
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Umbilical hernia, Inguinal hernia, Clinodactyly of the 5th fi...	OMIM:615834
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Pneumothorax	ORPHA:1302
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Abnormal sternum mo...	OMIM:248700
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scolio...	OMIM:128100
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis	OMIM:615238
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Natal tooth, ...	OMIM:225500
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Congenital Disorder Of Deglycosylation 1	Small hand, Dilation of Virchow-Robin spaces, Respiratory distress, Intrinsic hand muscle atrophy...	OMIM:615273
1P36 Deletion Syndrome	Myopathy, Telangiectasia, Foot polydactyly, Short foot, Patent ductus arteriosus, Tetralogy of Fa...	ORPHA:1606
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal heart morphology, Congenital diaphragmatic hernia, Oligohydramnios, Vascular dilatation	OMIM:617641
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Sparse eyelashes, Narrow vertebral interpedicular distance, M...	OMIM:250250
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Diaphyseal undertubulation, S...	OMIM:151050
Pyknoachondrogenesis	Webbed neck, Craniofacial hyperostosis, Unossified sacrum, Short iliac bones, Horizontal ribs, Sh...	ORPHA:3003
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Rhyns Syndrome	Brachydactyly, Short femoral neck, Radial bowing, Short long bone	OMIM:602152
Good Syndrome	Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morphology, Thr...	ORPHA:169105
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Geleophysic Dysplasia 3	Pneumonia, Epiphyseal dysplasia, Polyhydramnios, Mitral regurgitation, Limited elbow movement, Br...	OMIM:617809
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Noonan Syndrome 1	Chylothorax, Abnormal bleeding, Bruising susceptibility, Clinodactyly, Hypertrophic cardiomyopath...	OMIM:163950
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mor...	ORPHA:2769
Ogden Syndrome	Microretrognathia, Broad hallux, Fine hair, Ventricular septal defect, Pulmonary artery stenosis,...	ORPHA:276432
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Prominent eyelashes, Aspiration pneumonia, Horsesho...	ORPHA:1465
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Spastic Paraplegia 10, Autosomal Dominant	Upper limb muscle weakness, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Ur...	OMIM:604187
Roussy-Lévy Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter...	ORPHA:3115
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Bohring-Opitz Syndrome	Short toe, Retrognathia, Supernumerary nipple, Hypertrichosis, Dislocated radial head, Overlappin...	OMIM:605039
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Pectus carinatum, Platyspondyly, Erlenmeyer flask deformity of the femu...	OMIM:618476
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Myotonic Dystrophy 1	Atrial flutter, Respiratory distress, Facial diplegia, Polyhydramnios, First degree atrioventricu...	OMIM:160900
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Supernumerary nipple, Abnormal left ventricle morphology, Cryptorchidis...	ORPHA:466791
Scarf Syndrome	Webbed neck, Pectus carinatum, Abnormal form of the vertebral bodies, Diastasis recti, Barrel-sha...	OMIM:312830
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Osteopenia, Gastrointestinal hemorrhage, Recurrent pneumonia, Congenital hip dislocati...	OMIM:225400
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Myocardial necrosis, Unusual skin infection, Granuloma...	ORPHA:68
Phace Syndrome	Aortic root aneurysm, Abnormal sternum morphology, Abnormal heart morphology, Tetralogy of Fallot...	ORPHA:42775
Charge Syndrome	Webbed neck, Bifid femur, Short thumb, Umbilical hernia, Micrognathia, Down-sloping shoulders, Ha...	OMIM:214800
Episodic Ataxia Type 1	Respiratory distress, Scoliosis, Calf muscle hypertrophy, Kyphoscoliosis	ORPHA:37612
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, Complete atrioventricular canal defect, Ventricular...	OMIM:264480
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Galloway-Mowat Syndrome 3	Oligohydramnios, Hiatus hernia, Arachnodactyly, Coarctation of aorta, Camptodactyly, Pectus excav...	OMIM:617729
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Upper limb hypertonia, Joint hypermobility, Kyphosis, Lower limb hypertonia	OMIM:614898
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ...	OMIM:615418
Spastic Paraplegia 16, X-Linked	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Facial hypotonia, Lower limb a...	OMIM:300266
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Coffin-Lowry Syndrome	Highly arched eyebrow, Bifid sternum, Coarse hair, Thick eyebrow, Inguinal hernia, Uterine prolap...	OMIM:303600
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Glue ear, Congenital diaphragmatic her...	OMIM:613406
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Abnormal mitral valve mo...	ORPHA:903
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis	OMIM:615434
Spastic Paraplegia 36, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness	OMIM:613096
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular dysfunction, Hematuria, Pulmonary edema, Gastritis, Decreased ...	ORPHA:31826
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone morphology, Overri...	ORPHA:1110
Spastic Paraplegia 4, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:182601
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short neck, Sacrococcygeal teratoma,...	ORPHA:798
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Midline central ...	ORPHA:1827
Vici Syndrome	Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Micrognathia, Myopathy, Microcephaly,...	OMIM:242840
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Webbed neck, Carious teeth, Thoracic hypoplasia, R...	OMIM:117650
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Inflammatory abnormality of the eye, Scoliosi...	ORPHA:816
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Tenorio Syndrome	Recurrent pneumonia, Hypertrichosis, Recurrent aphthous stomatitis, Thick eyebrow, Keratoconjunct...	OMIM:616260
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Chylothorax, Thoracic hypoplasia, Broad ribs, Ventricul...	OMIM:229850
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria, Adrenal hyperplasia	OMIM:613677
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Joint hypermo...	ORPHA:2050
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
17Q11 Microdeletion Syndrome	Osteopenia, Dilatation of the cerebral artery, Hypertrophic cardiomyopathy, Abnormal heart morpho...	ORPHA:97685
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Dysbetalipoproteinemia	Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, G...	ORPHA:412
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Primary Intestinal Lymphangiectasia	Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves...	ORPHA:90362
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelitis, Functional abnormality of the bladder, Urinary retention, Myelopat...	ORPHA:79093
Duane Retraction Syndrome	Webbed neck, Preaxial hand polydactyly, Micrognathia, Low posterior hairline, Aplasia/Hypoplasia ...	ORPHA:233
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent otitis media, Patent ductus arteriosus, Slender finger, Cone-shaped epiphysis, Aplasia ...	OMIM:619841
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Down-sloping shoulders, Polydactyly...	OMIM:109400
Charge Syndrome	Interrupted aortic arch, Bifid femur, Umbilical hernia, Tetralogy of Fallot, Abnormal tibia morph...	ORPHA:138
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis...	OMIM:203800
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Autosomal Dominant Spastic Paraplegia Type 73	Urinary incontinence, Distal lower limb amyotrophy, Urinary urgency, Distal lower limb muscle wea...	ORPHA:444099
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture	OMIM:620240
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur...	ORPHA:100080
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Sparse ...	ORPHA:1133
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Decreased skull ossification, Stenosis of the medullary cavity of the long...	ORPHA:93324
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Autoimmune hypoparathyroidism, Antiphospholipid antibody positivity, Iridoc...	ORPHA:227982
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Oligohydramnios, Lipoatrophy	ORPHA:261304
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Femoral bowing, Micrognathia, Tibial bowing, ...	ORPHA:140
Chronic Thromboembolic Pulmonary Hypertension	Right atrial enlargement, Right ventricular dilatation	ORPHA:70591
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Vertebral wedgi...	OMIM:610967
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Ascites, Sclerosis of skull base, Metaphyseal scl...	ORPHA:2905
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Inguinal he...	ORPHA:96147
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short nail, Finger s...	ORPHA:503
Infantile Krabbe Disease	Respiratory distress, Shoulder girdle muscle weakness, Abnormal heart rate variability, Cherry re...	ORPHA:206436
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Sudden cardiac death,...	ORPHA:1545
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Rocker bottom foot, Kyphosis, Hip contracture, Weakness of facial musculature, Limi...	OMIM:301041
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Brachyolmia Type 3	Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis	OMIM:113500
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Scoliosis, Dilation of Virchow-Robin spaces, Aspiration pneumonia	ORPHA:95232
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys	OMIM:619064
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353281
Gorlin Syndrome	Abnormal vertebral morphology, Mandibular prognathia, Carious teeth, Vertebral wedging, Abnormal ...	ORPHA:377
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology	ORPHA:2234
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Sparse eyelashes, Ventricular septal d...	ORPHA:3472
Mosaic Trisomy 20	Narrow chest, Spinal canal stenosis, Abnormal mitral valve morphology, Dysplastic tricuspid valve...	ORPHA:1724
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Mitral valve prolapse, Wolff-Parkinson-White syndrome	ORPHA:369950
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Short thorax, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Mcdonough Syndrome	Pectus excavatum, Scoliosis, Kyphosis	ORPHA:2471
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Pulmonary hypoplasia	OMIM:245650
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Coffin-Siris Syndrome 4	Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Scolio...	OMIM:614609
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abno...	ORPHA:83451
Autosomal Recessive Spastic Paraplegia Type 15	Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ...	ORPHA:100996
Alagille Syndrome 1	Short distal phalanx of finger, Hypoplasia of the ulna	OMIM:118450
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Recurrent pneumonia, Decreased number of sternal ossific...	OMIM:234100
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Skeletal muscle atrophy, Kyphosis, Thin skin	OMIM:219080
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Gaucher Disease, Type Ii	Recurrent aspiration pneumonia, Double aortic arch, Apnea, Bronchiolitis	OMIM:230900
Zimmermann-Laband Syndrome	Facial hypertrichosis, Overtubulated long bones, Long eyelashes, Thick eyebrow, Micrognathia, Spl...	ORPHA:3473
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of h...	OMIM:127550
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Soft, doughy skin, Striae distensae, Micrognathia, Malar flattening, H...	OMIM:619329
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ...	ORPHA:1858
Jacobsen Syndrome	Aortic valve stenosis, Toe clinodactyly, Hypoplastic left heart, Toe syndactyly, Eczematoid derma...	ORPHA:2308
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Respiratory distress, Patent foramen ovale, Ventricular septal defect, Pulmo...	ORPHA:209905
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Tachypnea, Dilated cardiomyopathy, Respiratory distress	OMIM:614299
Tetanus	Respiratory distress, Stiff neck, Tachypnea, Bradycardia, Tachycardia, Hypertension	ORPHA:3299
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Anemia, Panniculitis	OMIM:608068
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Recurrent pneumonia, Inguinal hernia, Ventricular septal defect, 2-3 toe syndac...	OMIM:616449
Chand Syndrome	Imperforate hymen, Hydroureter, Atelectasis, Curly hair	ORPHA:1401
Teratoma, Pineal	Polyuria	OMIM:273120
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Respiratory distress	ORPHA:254913
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit...	OMIM:106300
Ogden Syndrome	Facial wrinkling, Micrognathia, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve...	OMIM:300855
Bohring-Opitz Syndrome	Congenital contracture, Retrognathia, Hypertrichosis, Micrognathia, Cardiomegaly, Microcephaly, S...	ORPHA:97297
Hemochromatosis, Type 1	Alopecia, Cardiomyopathy, Pleural effusion, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:235200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Pycnodysostosis	Coronal craniosynostosis, Small hand, Narrow chest, Abnormal clavicle morphology, Spondylolysis, ...	ORPHA:763
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Hemive...	OMIM:618223
Degcags Syndrome	Chronic kidney disease, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Cryptorchidi...	OMIM:619488
Solitary Fibrous Tumor	Uterine neoplasm, Urinary retention, Vaginal neoplasm, Prostate cancer, Abnormal prostate morphol...	ORPHA:2126
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm...	OMIM:601495
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusion...	OMIM:269500
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Pruritus, Camptodactyly of finger	ORPHA:2135
Helix Syndrome	Hyperparathyroidism, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Polyuria	OMIM:617671
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Pectus carinatum, Tricuspid regurgitation, Increased vertebral height, Ventricular...	OMIM:620663
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urina...	OMIM:604360
Spastic Paraplegia 30, Autosomal Dominant	Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction	OMIM:610357
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Lower limb asymmetry, Clinodactyly, Upper limb undergrowth, Hypop...	ORPHA:93315
Inhalational Anthrax	Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage	ORPHA:247257
Gitelman Syndrome	Chondrocalcinosis, Prominent U wave, Abnormal T-wave, Respiratory distress, Cerebral calcificatio...	ORPHA:358
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Increased bone mineral density, Barrel-shaped chest, Lateral femoral bowing...	OMIM:239000
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Congestive heart failure, Umbilical hernia, Recurrent otitis media, Tracheob...	OMIM:309900
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dilation of Virchow-Robin spaces, Tricuspid regurgitation, Mitral regurgitation, Hyperlordosis, S...	ORPHA:73223
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, M...	OMIM:620609
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:300971
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers	OMIM:613662
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Lower limb muscle weaknes...	ORPHA:99845
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Spastic Paraplegia 37, Autosomal Dominant	Urinary incontinence, Urinary urgency	OMIM:611945
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero...	ORPHA:540
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Small hand, Limitation of joint mobility, Overlapping toe, Thoracolumbar scoliosis, Atrial septal...	ORPHA:480880
Thrombotic Thrombocytopenic Purpura, Hereditary	Stroke, Transient ischemic attack, Myocardial infarction, Respiratory distress	OMIM:274150
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, T...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, T...	ORPHA:100082
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Recurrent otitis media, Atrioventricular canal defect...	OMIM:300867
Autosomal Recessive Spastic Paraplegia Type 48	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:306511
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brachy...	OMIM:618265
Cornelia De Lange Syndrome 6	Pectus carinatum, Short 1st metacarpal, Atrioventricular canal defect, Clinodactyly of the 5th fi...	OMIM:620568
Microlissencephaly-Micromelia Syndrome	Respiratory distress, 11 pairs of ribs, Short neck, Adducted thumb, Polyhydramnios, Palpebral edema	ORPHA:50810
Refsum Disease, Classic	Cardiomegaly, Short fourth metatarsal, Limb muscle weakness, Cardiomyopathy	OMIM:266500
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Chronic otitis media, ...	ORPHA:534
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Parathyroid hyperplasia, Polyuria, Nephrolithiasis	OMIM:617994
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior vena cava, Persi...	OMIM:618775
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Abnormal mitral valve morphology, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:1969
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Mitral atresia, Pulmonary artery stenosis, Aortic regurgitation, Abnormal cardiac septum morphology	ORPHA:140952
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Coarse hair, Carious teeth, Redundant skin, Malar flattening, Excessi...	OMIM:219200
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Thick eyebrow, Micrognathia, Sing...	ORPHA:2886
Atypical Rett Syndrome	Small hand, Abnormal pattern of respiration, Episodic tachypnea, Short foot, Scoliosis, Kyphosis,...	ORPHA:3095
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Flexion contracture, Aortic root aneurysm, Atrial septal defect, Generalized limb muscle atrophy	OMIM:618891
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Kyphosis, Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:261190
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Scoliosis, Clinodactyly, Brachydactyly, Camptodactyly, Flexion co...	OMIM:615547
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Congestive heart failure, Pleural effusion, Pericardial effusi...	ORPHA:846
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Facial telangiectasia, Ce...	OMIM:600376
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mu...	ORPHA:52430
Campomelia, Cumming Type	Clubbing of toes, Lymphedema, Abnormal thorax morphology, Oligohydramnios, Bowing of the long bon...	ORPHA:1318
Cranioectodermal Dysplasia 2	Clinodactyly, Short neck, Atrial septal defect, Patent ductus arteriosus, Syndactyly, Inguinal he...	OMIM:613610
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Mitral regurgitation	ORPHA:447753
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the long bones, Talipes equinovarus, Short long bone	OMIM:224410
Immunodeficiency 31C	Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, O...	OMIM:614162
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Inguinal hernia, Short ribs...	OMIM:271520
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ...	ORPHA:3027
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Atherosclerosis, Myopathy, Coronary artery atherosclerosis, Abnormality...	ORPHA:79083
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Hypoplasia of the odontoid process, ...	OMIM:616007
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Abnormal pelvic girdle bone morphology, Tracheal stenosis, Stippled calcification...	OMIM:302960
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Vertebral compression fracture, Increas...	OMIM:259770
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Thin skin, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractures of the long bones, P...	OMIM:112250
Gapo Syndrome	Asymmetry of the thorax, Alopecia, Sparse eyebrow, Abnormal pelvic girdle bone morphology, Abnorm...	ORPHA:2067
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Short nail, 2-4 toe syndactyly, Sandal gap, Fine hair, Narr...	OMIM:614099
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Cornelia De Lange Syndrome	Hip dislocation, Toe syndactyly, Short 1st metacarpal, Small hand, Oligodactyly, Joint stiffness,...	ORPHA:199
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb	OMIM:610832
Laryngomalacia	Respiratory distress	OMIM:150280
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor...	OMIM:301111
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac...	ORPHA:464343
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Abnormal subcutaneous...	OMIM:212065
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Pancreatitis	ORPHA:289916
Gaucher Disease Type 3	Aortic valve calcification, Osteolysis, Abnormal heart valve morphology, Increased susceptibility...	ORPHA:77261
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Decreased skull ossification, Calvarial osteosclerosis,...	OMIM:244460
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal epiphysis morphology, Joint stiffness, Abnorma...	ORPHA:2588
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, K...	OMIM:608836
C Syndrome	Toe syndactyly, Limitation of joint mobility, Clinodactyly of the 5th finger, Congenital diaphrag...	ORPHA:1308
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Retrognathia, Trichorrhexis nodosa, Woolly hair, Cutis laxa, Head titubation, Spa...	OMIM:619691
Peters-Plus Syndrome	Facial hypertrichosis, Square pelvis bone, Micrognathia, Broad foot, Limited elbow movement, Shor...	OMIM:261540
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Aspiration pneumonia, Respiratory distress, 11 ...	ORPHA:79500
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Bifid...	OMIM:105650
Liver Disease, Severe Congenital	Dry hair, Recurrent otitis media, Dilatation of the ventricular cavity, Ventricular septal defect...	OMIM:619991
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abno...	ORPHA:1328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Anomalous origin of left subclavian artery, High anterior hairline, Increased...	ORPHA:438213
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Duplication Of Urethra	Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco...	ORPHA:237
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Frontal upsweep of hair, Urethral stricture, Broad eyebrow, Colitis, Bronchi...	OMIM:301220
Rett Syndrome	Scoliosis, Skeletal muscle atrophy, Abnormal T-wave, Apnea, Intermittent hyperventilation, Short ...	OMIM:312750
Heme Oxygenase 1 Deficiency	Coombs-positive hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6 concentrati...	OMIM:614034
Craniometadiaphyseal Dysplasia	Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum...	OMIM:269300
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Bruising susceptibility, Pancreatitis, Osteoporosis, Hypertension, Kyphosis	OMIM:610475
Rett Syndrome	Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Motor stereotypy...	ORPHA:778
Prader-Willi Syndrome	Osteopenia, Small hand, Clinodactyly, Decreased muscle mass, Radial deviation of finger, Edema, G...	OMIM:176270
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Right atrial enlargement, Atrial septal defect, Macrocephaly	OMIM:615219
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Ascites, Malar rash, Pleural effusion, Skin rash, Myositis, Raynau...	ORPHA:93552
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Cubitus valgus, Brachydactyly, Frontal hirsutism, Short metatarsa...	OMIM:617157
Spastic Paraplegia 7, Autosomal Recessive	Upper limb muscle weakness, Upper limb hypertonia, Lower limb muscle weakness, Urinary bladder sp...	OMIM:607259
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis, Split hand, Foot dorsiflexor weakness	OMIM:618124
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Eczematoid dermatitis, Respiratory distress, Contracture of ...	ORPHA:83617
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Hennekam Syndrome	Narrow chest, Chylothorax, Arteriovenous malformation, Erysipelas, Camptodactyly of finger, Finge...	ORPHA:2136
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
Infantile Neuroaxonal Dystrophy	Flexion contracture, Aspiration pneumonia	ORPHA:35069
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2908
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Kyphosis, Joint hypermobility	ORPHA:1875
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Hip contracture, Hypoventilation, Fi...	OMIM:618493
Robinow Syndrome	Short distal phalanx of finger, Umbilical hernia, Abnormal heart morphology, Kyphoscoliosis, Miss...	ORPHA:97360
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo...	ORPHA:600
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hypogonadism, Decreased glomerular filtr...	ORPHA:85450
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Mitral regurgitation, Beaking of vertebral bodie...	OMIM:208400
Japanese Encephalitis	Skeletal muscle atrophy, Abnormal pattern of respiration, Respiratory distress, Elbow flexion con...	ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Familial Partial Lipodystrophy, Dunnigan Type	Atherosclerosis, Myopathy, Coronary artery atherosclerosis, Abnormality of skeletal muscle fiber ...	ORPHA:2348
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Abnormal posturing, Hypomimic face, Recurrent strep...	ORPHA:225147
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff...	OMIM:619313
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Respiratory distress, Abnormal h...	ORPHA:79282
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Hematuria, Neutropenia, Abnormal penis morphology, Acute ki...	ORPHA:95455
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Joint stiffness, Femoral bowing, Arachnodactyly, Elbow ank...	ORPHA:83
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tachypnea	ORPHA:79242
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Congestive heart failure, Respiratory distress, Oligohydramnios, Cholecy...	OMIM:615512
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Exercise-induced rhabdomyolysis, Cardiomegaly, Microcephaly, Hepatom...	OMIM:201475
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Acromegaly	Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Spinal canal stenosis, Kyphosis	ORPHA:963
Somatomammotropinoma	Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Spinal canal stenosis, Kyphosis	ORPHA:314769
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger	OMIM:250940
Mosaic Trisomy 8	Narrow chest, Camptodactyly of finger, Micrognathia, Patellar aplasia, Vertebral segmentation def...	ORPHA:96061
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/h...	OMIM:601678
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Multiple rib fractures, Femur fracture,...	OMIM:612301
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Toriello-Carey Syndrome	Narrow chest, Clinodactyly, Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Short neck...	ORPHA:3338
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae, Palmoplantar erythema, Facial erythema, Skin vesicle	ORPHA:64745
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Lower limb hype...	ORPHA:100984
Restrictive Dermopathy 2	Respiratory distress, Short clavicles, Overtubulated long bones	OMIM:619793
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Inguinal hern...	ORPHA:2789
Fucosidosis	Anterior beaking of lumbar vertebrae, Decreased muscle mass, Cardiomegaly, Hepatomegaly, Kyphosis	ORPHA:349
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Inguinal hernia, Hypoplasia of the radius, Femoral hernia, H...	ORPHA:3412
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia,...	ORPHA:93259
Snakebite Envenomation	Muscle fiber necrosis, Intracranial hemorrhage, Stroke, Rhabdomyolysis	ORPHA:449285
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Camptodactyly, Recurren...	OMIM:247200
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Microcephaly, Cardiomegaly	ORPHA:391428
Tay-Sachs Disease	Skeletal muscle atrophy, Lower limb muscle weakness, Aspiration pneumonia, Cherry red spot of the...	ORPHA:845
Iniencephaly	Polyhydramnios, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele	ORPHA:63259
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Increased circulating i...	ORPHA:457077
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Systemic lupus erythematosus, Abnormal heart valve morphology, Cherry red spot of...	ORPHA:77293
Clark-Baraitser syndrome	Genu valgum, Joint hypermobility, Scoliosis, Kyphosis, Short palm, Tapered finger	OMIM:300602
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Short toe, Hyperlordosis, Brachydactyly, Kyphosis	ORPHA:3085
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Trisomy 20P	Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Umbilical hernia, Campto...	ORPHA:261318
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Situs inversus totalis	OMIM:614833
Atelis Syndrome 2	Kyphosis, Clinodactyly, Sacral dimple, Vitreous hemorrhage, Dyspnea, Supravalvar pulmonary stenos...	OMIM:620185
Progeroid Syndrome, Petty Type	Short distal phalanx of finger, Abnormal hair morphology, Thick eyebrow, Redundant skin, Long eye...	ORPHA:2963
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short nail, Clinodactyly, Fine hair, Short toe, Radia...	OMIM:218330
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Sparse eyebrow, Camptodactyly, Atrial septal defect, Abnormality of the ki...	ORPHA:459061
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11 pairs of ribs,...	ORPHA:2044
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries...	ORPHA:2795
Autosomal Dominant Spastic Paraplegia Type 8	Urinary incontinence, Peroneal muscle atrophy, Urinary urgency, Lower limb muscle weakness	ORPHA:100989
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Abnormal hair morphology, Lymp...	OMIM:208900
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Sho...	OMIM:607872
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperpla...	ORPHA:90790
Carpenter Syndrome 2	Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Short neck, Atrial...	OMIM:614976
Congenital Disorder Of Glycosylation, Type Il	Hip dislocation, Ascites, Short neck, Lipodystrophy, Atrial septal defect, Pericardial effusion, ...	OMIM:608776
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Coarse hair, Carious teeth, Decreased muscle mass, Redundant skin, Ma...	ORPHA:357074
Lopes-Maciel-Rodan Syndrome	Small hand, Short foot, Scoliosis, Kyphosis	OMIM:617435
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Maternal Phenylketonuria	Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Ventricular...	ORPHA:2209
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Skeletal muscle atrophy, Apnea, Hypoventilation, Facial palsy, Arthrogryposis multiple...	OMIM:617143
Bickerstaff Brainstem Encephalitis	Pneumonia, Facial paralysis, Limb muscle weakness, Respiratory tract infection, Weakness of facia...	ORPHA:79138
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Elbow flexion contracture, Excessive wrinkled skin, Cutis laxa, Dermal translucency, F...	OMIM:614438
Neuroleptic Malignant Syndrome	Acute kidney injury, Aspiration pneumonia, Leukocytosis, Rhabdomyolysis, Proteinuria, Myoglobinur...	ORPHA:94093
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Hypertension, Umbilical hernia	ORPHA:1555
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Hypertro...	OMIM:300257
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Anterior concavity of t...	OMIM:216340
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Limb muscle weakness, Kyphosis, Lower limb muscle weakness	OMIM:614409
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
Osteopetrosis, Autosomal Dominant 2	Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial paralysis, Fractures of ...	OMIM:166600
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot...	OMIM:619574
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Sandal gap, Patent foramen ovale, Distal arthrogryposis, Hall...	OMIM:617557
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Beckwith-Wiedemann Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Diastasis recti, Congenital diaphragmatic hernia, ...	ORPHA:116
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Enamel hypoplasia, Brachydactyly, Short long bone, Brittle hair, Short palm	OMIM:619184
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary incontinence, Urinary urgency	OMIM:612319
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:241200
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Naxos Disease	Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Abnormal heart morphology, Right ventri...	OMIM:601214
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Kyphosis, Eczematoid dermatitis, Cli...	ORPHA:464306
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Leptospirosis	Hypotension, Uveitis, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Sk...	ORPHA:509
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Hardikar Syndrome	Umbilical hernia, Pyelonephritis, Portal hypertension, Patent foramen ovale, Ventricular septal d...	OMIM:301068
45,X/46,Xy Mixed Gonadal Dysgenesis	Webbed neck, Micrognathia, Low posterior hairline, Short 4th metacarpal, Cubitus valgus, Hallux v...	ORPHA:1772
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Nijmegen Breakage Syndrome	Recurrent pneumonia, Rhabdomyosarcoma, Recurrent urinary tract infections, Recurrent otitis media...	OMIM:251260
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Kyphosis, Short toe, Olig...	ORPHA:464311
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Inguinal hernia, Long fibula, Pectus excavatum, Recurrent respira...	ORPHA:935
Ramos-Arroyo Syndrome	Xerostomia, Keratitis, Respiratory distress, Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia, Finger syndactyly, Broa...	ORPHA:93260
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan	OMIM:620166
Menkes Disease	Alopecia, Metaphyseal spurs, Microcephaly, Cutis laxa, Metaphyseal widening, Brittle hair, Sparse...	OMIM:309400
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Short neck, Short foot, Scoliosis, Kyphosis, Short palm	ORPHA:238750
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilation of Virchow-Robin spaces, Increased nuchal translucency, Inguinal hernia, Ri...	ORPHA:544488
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,...	ORPHA:2658
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Microphthalmia, Syndromic 3	Butterfly vertebrae, Ventricular septal defect, Missing ribs, Supernumerary ribs, Rib fusion, Hem...	OMIM:206900
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Leukocytosis, Splenomegaly, Hepatomegaly, Enterocolitis, Neut...	ORPHA:90051
Hereditary Acrokeratotic Poikiloderma	Erythema, Dystrophic toenail, Skin ulcer, Camptodactyly of finger, Finger syndactyly, Abnormal hi...	ORPHA:2907
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Multiple lipomas, Lipody...	OMIM:151800
Adnp Syndrome	Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broad hallux, Umbilical he...	ORPHA:404448
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis	ORPHA:500180
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Bell-shaped thorax, Ventricular septal defect, Coarctation of aorta, ...	OMIM:244450
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress, Petechiae, Abnormal lymphatic vessel morphology, Prolonged prothr...	ORPHA:2330
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Clinodactyly of the 5th...	ORPHA:2916
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb amyotrophy, Urinary urgency, Hand muscle weakness	ORPHA:320355
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:100075
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the neck, Increased fac...	ORPHA:280365
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Generalized amyotrophy, Skeletal muscle atrophy, Aspiration pneumonia, Splenomegaly, Seborrheic d...	OMIM:301072
Congenital Laryngeal Web	Respiratory distress, Abnormal cardiac septum morphology	ORPHA:2374
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis	ORPHA:228302
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Hypoplastic scapulae, Finger swelling, Premature graying of hair, Flexion contracture o...	OMIM:256040
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Macrocephaly, Hepatomegaly, Macroglossia	OMIM:268800
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis	ORPHA:98805
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Short ne...	ORPHA:251014
Nasolacrimal Duct Cyst	Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic i...	ORPHA:141083
Monosomy 9Q22.3	Abnormality of the vertebral column, Abnormal rib morphology, Delayed eruption of teeth, Cardiac ...	ORPHA:77301
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb...	ORPHA:1394
Auriculocondylar Syndrome	Respiratory distress, Vein of Galen aneurysmal malformation	ORPHA:137888
Cystic Fibrosis	Cor pulmonale, Recurrent pneumonia, Hepatosplenomegaly, Chronic sinusitis, Hepatomegaly, Hypercal...	OMIM:219700
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Arachn...	ORPHA:2115
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures	ORPHA:85193
Thyroid Lymphoma	Respiratory distress, Dyspnea, Hashimoto thyroiditis	ORPHA:97285
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bruising susceptibility, Atrophic scars, Joint hypermobility, Hallux valgus, Hyperlordo...	OMIM:617821
Koolen-De Vries Syndrome	Vertebral segmentation defect, Bicuspid aortic valve, Abnormal cardiac septum morphology, Pectus ...	ORPHA:96169
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Kyphosis, In...	OMIM:166220
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Osteolysis, Hip contracture, Myopa...	ORPHA:3042
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Inguinal hernia, Joint hypermobi...	ORPHA:85293
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Alfadhel Syndrome	Nasal flaring, Joint hypermobility	OMIM:620655
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly	OMIM:617713
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R...	ORPHA:300605
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca...	ORPHA:31824
Plague	Hypotension, Inflammation of the large intestine, Lymphadenitis, Abnormal bleeding, Chapped lip, ...	ORPHA:707
Wrinkly Skin Syndrome	Sparse hair, Atrial septal dilatation, Congenital hip dislocation, Carious teeth, Delayed eruptio...	ORPHA:2834
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Prostate n...	ORPHA:556
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae, Kyphosis, Thin skin	OMIM:610489
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Patent foramen ovale, Bi...	OMIM:618460
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Res...	ORPHA:2554
Genitopatellar Syndrome	Congenital hip dislocation, Inferior pubic ramus hypoplasia, Micrognathia, Patellar aplasia, Knee...	OMIM:606170
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Scoliosis, Xerostomia, Atrial septal defect, Hip dysplasia, Osteoporosis,...	ORPHA:398069
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Scoliosis, Kyphosis, Ventricular septal defect	ORPHA:404440
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Abnormal metacarpophalangeal j...	ORPHA:465508
Mitochondrial Neurogastrointestinal Encephalomyopathy	Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex...	ORPHA:298
Bardet-Biedl Syndrome 3	Tricuspid regurgitation	OMIM:600151
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis	ORPHA:464282
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Anoperineal fistula, Prominent eyelashes, Recurrent otitis...	OMIM:147920
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Webbed neck, Broad femoral neck, Retrognathia, Thick ...	ORPHA:488434
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Hypoventilation, Aspiration pneumonia	OMIM:619482
Phacoanaphylactic Uveitis	Posterior uveitis, Panuveitis, Macular edema, Keratitis, Hyphema, Cystoid macular edema, Corneal ...	ORPHA:209959
Glycogen Storage Disease Ii	Firm muscles, Limb muscle weakness, Pleural effusion, Splenomegaly, Cardiomegaly, Hepatomegaly, M...	OMIM:232300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Limb muscle weakness, Ragged-red muscle fibers	OMIM:609286
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Respiratory distress, Weakness of facial musculature, Increased intr...	OMIM:220110
Spastic Paraplegia 84, Autosomal Recessive	Ankle flexion contracture, Leg muscle stiffness, Lower limb muscle weakness, Hip contracture, Kne...	OMIM:619621
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ...	OMIM:607634
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Kyphosis, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Lower limb muscle weakness	ORPHA:171612
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Atherosclerosis, Decreased glomer...	ORPHA:93598
Cockayne Syndrome Type 2	Subcortical white matter calcifications, Scarring, Enamel hypoplasia, Limb hypertonia, Conjunctiv...	ORPHA:90322
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Tetral...	OMIM:192350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Congenital-Onset Steinert Myotonic Dystrophy	Facial hypotonia, Enuresis, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:589821
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pulmonary hypoplasia	OMIM:231680
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb amyotrophy, Urinary urgency, Lower limb muscle weakness	ORPHA:100999
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Kyphosis, Eczematoid dermatitis, Joint hypermobility, Prominent protruding coccyx, Pr...	OMIM:300966
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi...	ORPHA:2269
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Slender metacarpals, Ovoid vertebral b...	OMIM:620601
Hereditary Angioedema Type 1	Facial edema, Hypotension, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dors...	ORPHA:100050
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Ol...	OMIM:249000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypertrichosis, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Fle...	OMIM:619479
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Recurrent otitis media, Overlapping toe, Ventricular septal defect, A...	OMIM:270400
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary retention, Recurrent urinary tract infections, Aspiration pneumonia, Flexion contracture,...	ORPHA:99027
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop...	ORPHA:163966
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib...	ORPHA:729
Oculoectodermal Syndrome	Lymphedema, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Short n...	OMIM:600268
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Ascites, Decreased skull ossification, Brachydac...	OMIM:602361
Wrinkly Skin Syndrome	Osteopenia, Hypoplasia of the musculature, Congenital hip dislocation, Slender long bone, Umbilic...	OMIM:278250
Plaa-Associated Neurodevelopmental Disorder	Pectus carinatum, Postaxial foot polydactyly, Contractures of the large joints, Apnea, Edema of t...	ORPHA:521426
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Carcinoid Syndrome	Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiectasia, Heart mu...	ORPHA:100093
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Hypotonia-Cystinuria Syndrome	Facial palsy, Ragged-red muscle fibers	OMIM:606407
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Limited elbow extension, Craniosynostosis, Hypertension	OMIM:123790
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Hypertrichosis, Az...	OMIM:210900
Chime Syndrome	Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle...	ORPHA:3474
Hypoglossia With Situs Inversus	Respiratory distress, Situs inversus totalis	OMIM:612776
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea	ORPHA:2707
Amyloidosis, Hereditary Systemic 1	Pulmonary edema, Cardiomegaly, Cardiomyopathy	OMIM:105210
Alexander Disease	Osteopenia, Hypotension, Scoliosis, Cerebral calcification, Infectious encephalitis, Short neck, ...	ORPHA:58
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Clinodactyly, Prominent scalp veins, Reduced subcutaneous adipose tissue, Short neck, ...	OMIM:264090
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Gms Syndrome	Tricuspid regurgitation	ORPHA:2090
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy	OMIM:600462
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Coarctation of aorta, Patent ductus arteriosus, Mitral stenosis	OMIM:617260
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morph...	ORPHA:568
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Scoliosis, Kyphosis	ORPHA:79107
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Kyphosis, Abnormal dental enamel morphology, Short...	ORPHA:1005
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Long eyelashes, Frontal upsweep of hair, Urinary urgency, Synophrys	OMIM:619286
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Respiratory distress, Ventricular septal defect, Atria...	OMIM:610536
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Familial Calcium Pyrophosphate Deposition	Calcification of cartilage, Abnormal intervertebral disk morphology	ORPHA:1416
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Rhabdomyolysis, Hepatomegaly	ORPHA:159
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Fine hair, Broad hallux, Hypoplasia of the zygomatic bone, Thick eyebrow, Short neck,...	OMIM:614800
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress	OMIM:615597
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Kyphosis, Metatarsus valgus, Joint hypermobility, Scoliosis, Genu varum, Tapered finger	ORPHA:2479
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1883
Spinocerebellar Ataxia 42	Urinary incontinence, Urinary urgency	OMIM:616795
Moderate Hemophilia A	Intramuscular hematoma, Cartilage destruction, Hip contracture	ORPHA:169805
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse, Scoliosis, Patent d...	ORPHA:261337
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Autosomal Dominant Spastic Paraplegia Type 10	Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac...	ORPHA:100991
Neurofibromatosis Type 1	Osteopenia, Scoliosis, Kyphosis, Slender long bone, Arterial stenosis, Joint stiffness, Genu valg...	ORPHA:636
Pmm2-Cdg	Platyspondyly, Osteopenia, Anasarca, Aspiration pneumonia, Hypertrophic cardiomyopathy, Respirato...	ORPHA:79318
Fetal Akinesia Deformation Sequence 1	Thin ribs, Pulmonary hypoplasia, Congenital contracture, Thoracic hypoplasia, Decreased muscle ma...	OMIM:208150
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Genu valgum, Thoracolumbar scoliosis, Hyperlordosis...	OMIM:618443
Adrenocortical Carcinoma	Striae distensae, Lung adenocarcinoma, Hypertrichosis	ORPHA:1501
Cockayne Syndrome A	Atypical scarring of skin, Limitation of joint mobility, Square pelvis bone, Kyphosis, Basal gang...	OMIM:216400
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal dental ename...	ORPHA:2363
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Thin ribs	ORPHA:456328
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Os odontoideum, Microcephaly, Cutis laxa, Adducted thumb, Dermal transl...	OMIM:616603
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Internally rotated shoulders, Dry skin, Hepatosplenomegaly, Micrognathia, Hip contractu...	OMIM:619503
Narcolepsy Type 1	Precocious puberty, Nocturia	ORPHA:2073
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Pe...	ORPHA:90038
Spastic Paraplegia 26, Autosomal Recessive	Upper limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Lower limb muscle weak...	OMIM:609195
Spastic Paraplegia 15, Autosomal Recessive	Distal amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary inc...	OMIM:270700
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Lower limb muscle weakness, Camptodactyly, Flexion contracture, Urinary urgency	OMIM:275900
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr...	ORPHA:2131
Biotinidase Deficiency	Eczematoid dermatitis, Respiratory distress, Apnea, Limb muscle weakness, Skin rash, Conjunctivit...	ORPHA:79241
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Pectus carinatum, Contractures of the large joints, Apnea, Postaxial polydactyly, Long fingers, H...	OMIM:617527
Spinocerebellar Ataxia 25	Urinary urgency, Facial myokymia	OMIM:608703
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Polyhydr...	ORPHA:420794
Spinocerebellar Ataxia Type 42	Urinary incontinence, Psoriasiform dermatitis, Urinary urgency	ORPHA:458803
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Unilateral Polymicrogyria	Abnormal heart morphology, Microcephaly, Abnormal posturing, Pulmonary arteriovenous malformation	ORPHA:268943
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality...	ORPHA:168572
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Striae distensae, Alopecia, Proximal amyotrophy, Hirsutism	ORPHA:189427
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertroph...	OMIM:618733
Aicardi Syndrome	Recurrent pneumonia, Block vertebrae, Butterfly vertebrae, Hiatus hernia, Missing ribs, Supernume...	OMIM:304050
Sandifer Syndrome	Abnormal posturing, Torticollis, Decreased cervical spine mobility	ORPHA:71272
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Lipodystrophy, Congenital Generalized, Type 1	Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ...	OMIM:608594
Intellectual Developmental Disorder, Autosomal Dominant 57	Otitis media, Joint hypermobility, Brachydactyly, Absent fourth finger distal interphalangeal cre...	OMIM:618050
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter	OMIM:615595
Neuroblastoma	Respiratory distress, Abnormal bleeding, Hypertension, Pathologic fracture	ORPHA:635
Diamond-Blackfan Anemia	Absent thumb, Abnormality of the thenar eminence, Short thumb, Abnormal heart morphology, Radial ...	ORPHA:124
Reactive Arthritis	Abnormal pleura morphology, Dystrophic fingernails, Cartilage destruction, Pulmonary fibrosis, Pe...	ORPHA:29207
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Abnormality of the kidney, Urinary...	ORPHA:53721
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis	OMIM:300942
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Micrognathia, Generalized hirsutism, Split...	ORPHA:1300
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy...	OMIM:619743
Chronic Graft Versus Host Disease	Alopecia, Abnormal vagina morphology, Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleu...	ORPHA:99921
Agel Amyloidosis	Cardiomyopathy, Dry skin, Respiratory tract infection, Nail dystrophy, Cutis laxa, Facial palsy, ...	ORPHA:85448
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Inguinal ...	ORPHA:254519
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Kyphosis, Clinodactyly of the 5th finger, Partial absence of thumb, Co...	ORPHA:476126
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ...	OMIM:235400
Kinsship Syndrome	Mesomelia, Hypertrichosis, Micrognathia, Single transverse palmar crease, Fibular hypoplasia, Pol...	OMIM:619297
Adrenoleukodystrophy	Alopecia, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Hypogonadism, Urinar...	OMIM:300100
Lassa Fever	Conjunctivitis, Oliguria, Increased circulating IgM level	ORPHA:99824
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Short long bone, Knee flexion contracture	OMIM:620454
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Flexion contracture, Leg muscle stiffness, Spastic/hyperactive bladder, Generalized limb muscle a...	ORPHA:137898
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Pectus carinatum, Skel...	ORPHA:2461
Cushing Disease	Skin ulcer, Striae distensae, Ecchymosis, Hirsutism, Proximal amyotrophy, Vertebral compression f...	ORPHA:96253
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa...	OMIM:618748
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia	OMIM:617591
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:619259
Autosomal Dominant Spastic Paraplegia Type 12	Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Lower limb muscle weakness	ORPHA:100993
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Painless fractures due to injury, Respiratory distress, Ascites, Corneal...	OMIM:256810
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Foam cells, Aplasia/Hypoplasia of the abdominal wal...	ORPHA:646
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia	OMIM:609727
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Dilated cardiomyopathy, Dehydration	OMIM:251110
Lipodystrophy, Congenital Generalized, Type 2	Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Reduced su...	OMIM:269700
Adult Polyglucosan Body Disease	Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction	ORPHA:206583
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we...	ORPHA:98908
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Frontal balding, Hepatosplenomegaly, Polycystic ovar...	ORPHA:64
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Kyphosis, Decreased muscle mass, Kyphoscoliosis, Arachnodactyly, Slender toe, L...	ORPHA:3063
Cystic Fibrosis	Absent vas deferens, Nephrolithiasis, Pneumothorax, Sinusitis, Recurrent lower respiratory tract ...	ORPHA:586
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint hypermobility, Facial hypotonia, Abnormality of muscle size, Scoliosis, Kyphosis	ORPHA:364028
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Orofaciodigital Syndrome Iii	Short sternum, Pectus excavatum, Kyphosis	OMIM:258850
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar...	OMIM:603860
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis	ORPHA:88628
Luo-Schoch-Yamamoto Syndrome	Tricuspid regurgitation	OMIM:619460
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Torticollis, Scolio...	OMIM:619480
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Distal amyotrophy, Scoliosis, Kyphosis	OMIM:609541
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Dilated cardiomyopathy, Foot joint contracture, IgA deposition in the glo...	ORPHA:79408
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Situs inversus totalis, Polyhydramnios	ORPHA:990
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Ragge...	ORPHA:255210
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short ribs, Short clavicles, Sagittal cran...	OMIM:603116
Jaberi-Elahi Syndrome	Pectus carinatum, Joint stiffness, Joint hypermobility, Scoliosis, Kyphosis	OMIM:617988
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Bilateral cryptorchidism, Neurogenic bladder, Urinary incontinenc...	ORPHA:466722
Oromandibular Dystonia	Respiratory distress, Torticollis	ORPHA:93958
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Sclerosis of skull base, Increased intervertebral ...	OMIM:619727
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Block vertebrae, Cervical ribs, Tetralogy of Fallot, Genu valgu...	OMIM:164210
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Failure to thrive, Corneal scarring, Impaired oral bolus formation, De...	ORPHA:404454
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Thick eyebrow, Brachydactyly...	OMIM:211380
Cerebrocostomandibular Syndrome	Posterior rib gap, Bell-shaped thorax, Kyphosis, Ventricular septal defect	ORPHA:1393
Central Diabetes Insipidus	Nocturia	ORPHA:178029
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Increased circulating prolactin concentration, Cent...	ORPHA:293987
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Macroglossia, Broad distal phalanx of finger, Elbow flexion contracture, Hypoplasia of the capita...	OMIM:619194
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology	ORPHA:1876
Cowden Syndrome 5	Subcutaneous lipoma, Pectus excavatum, Scoliosis, Kyphosis, Thyroiditis	OMIM:615108
Craniosynostosis And Dental Anomalies	Broad hallux, Clinodactyly, 2-3 toe syndactyly, Hallux valgus, Short phalanx of finger	OMIM:614188
Cockayne Syndrome B	Atypical scarring of skin, Limitation of joint mobility, Square pelvis bone, Kyphosis, Basal gang...	OMIM:133540
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Abnormal clavicle morphology, Eczematoid dermatitis,...	ORPHA:85199
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Recurrent otitis media, Broad ribs, Genu valgum, Limited elbow extension, Chole...	OMIM:301066
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Clinodactyly, Umbilical hernia, Kyphoscoliosis, Ventricular septal de...	OMIM:301040
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Recurrent lower respiratory tract infections, Apnea, Hypopnea	OMIM:618426
Tetrasomy 9P	Pulmonary hypoplasia, Hypoplastic scapulae, Juxtaductal coarctation of the aorta, Patent foramen ...	ORPHA:3310
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Cowden Syndrome 6	Subcutaneous lipoma, Pectus excavatum, Scoliosis, Kyphosis, Thyroiditis	OMIM:615109
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Pachyonychia Congenita	Respiratory distress, Angular cheilitis	ORPHA:2309
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture	OMIM:613154
Spinocerebellar Ataxia 2	Urinary incontinence, Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:183090
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscle weakness, ...	ORPHA:199343
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul...	ORPHA:3427
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Palpebral edema, Scoliosis, Kyphosis	ORPHA:261144
Aicardi Syndrome	Block vertebrae, Small hand, Butterfly vertebrae, Hiatus hernia, Missing ribs, Multiple lipomas, ...	ORPHA:50
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Goiter, Shoulder girdle muscle weakness, Noct...	ORPHA:254892
Coenzyme Q10 Deficiency, Primary, 1	Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers	OMIM:607426
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Recurrent lowe...	OMIM:619534
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Tricuspid regurgitation	ORPHA:228396
Semilobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Abnormal heart morphology, Central apnea, ...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Abnormal heart morphology, Central apnea, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Abnormal heart morphology, Central apnea, ...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Abnormal heart morphology, Central apnea, ...	ORPHA:93924
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Renal insufficiency, Leukocytosis, Skin rash...	ORPHA:99829
Histiocytoid Cardiomyopathy	Pallor, Ventricular septal defect, Pulmonary edema, Cardiomegaly, Hepatomegaly	ORPHA:137675
Adrenomyeloneuropathy	Frontal balding, Urinary retention, Leg muscle stiffness, Urinary bladder sphincter dysfunction, ...	ORPHA:139399
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Hip dysplasia, Flexion contracture, Short foot, Scoliosis, Kyphosis	ORPHA:500055
Castleman Disease	Increased circulating interleukin 6 concentration, Anemia, Decreased mean corpuscular volume, Thr...	ORPHA:160
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Radioulnar synostosis, Short hallux, Atrial sep...	OMIM:194190
Cowden Syndrome 1	Subcutaneous lipoma, Pectus excavatum, Scoliosis, Kyphosis, Thyroiditis	OMIM:158350
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae	OMIM:614688
Multiple Endocrine Neoplasia, Type Iib	Proximal femoral epiphysiolysis, Myopathy, Joint hypermobility, Hyperlordosis, Pectus excavatum, ...	OMIM:162300
Cowden Syndrome	Macroglossia, Lipoma, Brachydactyly, Pectus excavatum, Scoliosis, Bone cyst, Kyphosis, Mucosal te...	ORPHA:201
Spastic Ataxia 3, Autosomal Recessive	Neurogenic bladder, Urinary urgency	OMIM:611390
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger, Inguinal hernia, Pectus excavatum, Kyphosis	OMIM:609944
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Osteoporosis, Scoliosis, Kyphosis	OMIM:619718
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Polyhydramnios, Ascites, Congestive heart failure	OMIM:617156
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Micrognathia, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia	ORPHA:96191
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Leg muscle stiffness, Urinary bladder sphincter dysfunction	ORPHA:43
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Dehydration	OMIM:251100
Nelson Syndrome	Quadriceps muscle atrophy, Striae distensae, Abnormality of the sphenoid sinus, Lower limb muscle...	ORPHA:199244
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Contracture of the proximal interpha...	ORPHA:2232
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Intraalveolar phospholipid accumulation, Fine hair, Pulmonary hemorrhage...	OMIM:222700
Overlap Myositis	Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ...	ORPHA:206572
Dopamine Beta-Hydroxylase Deficiency	Anemia, Rhinitis, Elevated urinary dopamine level, Nocturia	ORPHA:230
Kearns-Sayre Syndrome	Ragged-red muscle fibers	OMIM:530000
Abetalipoproteinemia	Myopathy, Kyphoscoliosis, Distal lower limb muscle weakness, Cardiomegaly, Hepatomegaly	ORPHA:14
Spinocerebellar Ataxia 1	Distal amyotrophy, Skeletal muscle atrophy, Urinary bladder sphincter dysfunction	OMIM:164400
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness	ORPHA:88644
Machado-Joseph Disease	Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:109150
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Skin ulcer, Striae distensae, Ecchymosis, Hirsutism, Proximal amyotrop...	ORPHA:99889
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Recurrent otitis media, Long hallux, Genu valgum, Arachnodactyly, Bicuspid...	ORPHA:261537
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Keratitis, Eczematoid dermatitis, Ectrodactyly, Cam...	ORPHA:2273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Friedreich Ataxia	Cardiomyopathy, Hand muscle atrophy, Urinary bladder sphincter dysfunction	ORPHA:95
Spinocerebellar Ataxia 10	Urinary incontinence, Urinary urgency	OMIM:603516
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth abscess, Anemi...	ORPHA:642
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Alexander Disease Type Ii	Limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:363722
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Arrhythmia	ORPHA:261211
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Acute Transverse Myelitis	Urinary retention, Upper limb muscle weakness, Urinary bladder sphincter dysfunction, Systemic lu...	ORPHA:139417
Citrullinemia Type Ii	Hepatomegaly, Pancreatitis, Enuresis	ORPHA:247585
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Short 5th toe, 2-4 toe cutaneous syndactyly, Sacral ...	ORPHA:268261
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Abnormal m...	ORPHA:79102
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Urinary urgency, Generalized amyotrophy	OMIM:601162
Spastic Ataxia, Charlevoix-Saguenay Type	Peroneal muscle atrophy, Distal amyotrophy, Urinary urgency	OMIM:270550
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection...	OMIM:614748
Superficial Siderosis	Arteriovenous malformation, Functional abnormality of the bladder, Lower limb muscle weakness, Ab...	ORPHA:247245
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy	OMIM:611881
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Basal ganglia calcification, Cerebral calcification, Oligohydramnios, Pu...	ORPHA:2785
Spinocerebellar Ataxia Type 13	Urinary incontinence, Urinary urgency, Torticollis	ORPHA:98768
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Hyphema, Recurrent otitis media, Long hallux, Genu valgum, Ventricular sep...	ORPHA:261552
Primrose Syndrome	Cerebral calcification, Genu valgum, Hip contracture, Irregular vertebral endplates, Knee flexion...	OMIM:259050
Fraser Syndrome	Toe syndactyly, Dental malocclusion, Finger syndactyly, Abnormal lung lobation, Tracheal stenosis...	ORPHA:2052
Mend Syndrome	Aortic valve stenosis, Broad hallux, Abnormal heart morphology, Overlapping toe, Overlapping fing...	ORPHA:401973
Arachnoid Cyst	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Encephalocele, Subarachnoid he...	ORPHA:2356
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Imperforate hymen, Hematocolpos, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Urete...	OMIM:619522
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Keloids, Rickets, Finger swelling, Kyphosis, Campto...	OMIM:309000
Rodrigues Blindness	Nasal flaring	OMIM:268320
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Branchiooculofacial Syndrome	Sparse hair, Short thumb, Supernumerary nipple, Elbow flexion contracture, Premature graying of h...	OMIM:113620
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Eczematoid dermatitis	OMIM:305100
Micro Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:2510
Mowat-Wilson Syndrome	Aortic valve stenosis, Recurrent otitis media, Genu valgum, Bicuspid aortic valve, Patent ductus ...	ORPHA:2152
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:603903
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia	OMIM:260920
Gaucher Disease	Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor...	ORPHA:355
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Scoliosis, Decreased heart rate variability, Kyphosis, Increased femoral anteversion	OMIM:619005
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Limitation of joint mobility, Lumbar hyperlordosis, Joint hypermobility,...	ORPHA:457359
Melas	Stroke-like episode, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue	ORPHA:550
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers	OMIM:614924
Combined Oxidative Phosphorylation Deficiency 58	Ragged-red muscle fibers	OMIM:620451
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Mend Syndrome	Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s...	OMIM:300960
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Orthostatic Hypotension 1	Weakness of facial musculature, Reduced circulating prolactin concentration, Nocturia	OMIM:223360
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Spinal Cord Injury	Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Ragged-red muscle fibers	OMIM:603041
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi...	ORPHA:2729
Fraser Syndrome 1	Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Extension of hair growth on templ...	OMIM:219000
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Brachydactyly, Short palm	ORPHA:466943
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Carney Complex	Striae distensae, Paranasal sinus neoplasm, Hirsutism, Ductal carcinoma in situ, Cardiac myxoma	ORPHA:1359
Ramon Syndrome	Juvenile rheumatoid arthritis, Scoliosis, Kyphosis, Telangiectasia	OMIM:266270
Mitochondrial Complex I Deficiency, Nuclear Type 1	Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:252010
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint hypermobility, Arachnodactyly, Hyperlordosis, Scoliosis, Kyphosis	OMIM:617011
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Rhabdomyolysis, Thrombocytopenia	ORPHA:466650
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Skeletal muscle atrophy, Urinary urgency	OMIM:146500
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Stiff Skin Syndrome	Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly	OMIM:184900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Immunodeficiency 47	Tricuspid regurgitation	OMIM:300972
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Hypomimic face	ORPHA:411602
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death	OMIM:124000
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Foot dorsiflexor weakness, Lower limb hypertonia	ORPHA:171629
Choreoacanthocytosis	Peroneal muscle atrophy, Muscle fiber atrophy, Distal amyotrophy, Myopathy	ORPHA:2388
Parkinson Disease 14, Autosomal Recessive	Hypomimic face, Nocturia	OMIM:612953
Isolated Posterior Meningocele	Occipital meningocele, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect	ORPHA:268810
Isolated Ectopia Lentis	Mandibular prognathia, Malar flattening	ORPHA:1885
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome		ORPHA:2084

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbn1.

No publications found that use IMPC mice or data for Fbn1.

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MGI Allele	Allele Type	Produced
Fbn1^em1(IMPC)H	Inter-exon deletion	Mice
Fbn1^{tm39432(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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