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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
increased mean platelet volume	Fbn1^em1(IMPC)H	HET	Early adult	4.85×10^-05
increased spleen weight	Fbn1^em1(IMPC)H	HET	Early adult	0.00
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
decreased lymphocyte cell number	Fbn1^em1(IMPC)H	HET	Early adult	1.71×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fbn1 mutations

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

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

Human diseases associated with Fbn1 (16 diseases)
Human diseases predicted to be associated with Fbn1 (3032 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, Ascending aortic dissection, Scoliosis, Aortic aneurysm	OMIM:604308
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Long eyelashes, Short palm,...	OMIM:102370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Small hand, Abnormal femur morphology, Long eyelas...	ORPHA:969
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Lipoatrophy, Arachnodactyly, Lo...	ORPHA:284979
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contr...	OMIM:154700
Weill-Marchesani Syndrome 2	Short metacarpal, Striae distensae, Ventricular septal defect, Lumbar hyperlordosis, Hypoplasia o...	OMIM:608328
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Pectus excavatum, Kyphosis, Mitral valve prolapse, Aortic root aneurysm, Narrow...	OMIM:616914
Geleophysic Dysplasia 2	Ovoid vertebral bodies, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral ...	OMIM:614185
Shprintzen-Goldberg Syndrome	Missing ribs, Pectus excavatum, Abnormal form of the vertebral bodies, Pectus carinatum, Mitral v...	ORPHA:2462
Stiff Skin Syndrome	Lack of skin elasticity	ORPHA:2833
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Stiff Skin Syndrome	Knee flexion contracture, Lipodystrophy, Elbow 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
Ectopia Lentis 1, Isolated, Autosomal Dominant		OMIM:129600

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

Disease	Matching phenotypes	Source
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p...	OMIM:250460
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal rib morphology, Abnormal form...	ORPHA:1354
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Mass Syndrome	Pectus carinatum, Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm	OMIM:604308
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial...	ORPHA:60033
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy...	ORPHA:199241
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Pectus excavatum, Pectus carinatum, Mitral valve prolapse, Ascending ao...	OMIM:616166
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Cardiomegaly...	OMIM:208000
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Long eyelashes, Short palm,...	OMIM:102370
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad me...	OMIM:618724
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H...	ORPHA:2038
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	OMIM:609655
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capital femoral epi...	OMIM:132400
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio...	ORPHA:60025
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Re...	ORPHA:36412
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	ORPHA:50809
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Cerebral berry aneurysm, Portal hypertension	OMIM:210050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Tetralogy of Fallot,...	ORPHA:1166
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met...	ORPHA:1278
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection, Bronchiectasis	OMIM:620080
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placeme...	ORPHA:1120
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct...	OMIM:619825
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Van Bogaert-Hozay Syndrome	Abnormal hair morphology, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the han...	OMIM:277150
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo...	OMIM:612387
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Calcification Of Joints And Arteries	Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Inte...	OMIM:211800
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph...	OMIM:219100
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Loeys-Dietz Syndrome 4	Joint laxity, Inguinal hernia, Torticollis, Bicuspid aortic valve, Arachnodactyly, Eosinophilic i...	OMIM:614816
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus exc...	ORPHA:2847
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology	OMIM:614100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Kyphosis, Pectus carinatum, Mitral valve prolapse, Aortic root aneurysm, ...	OMIM:609008
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Short metata...	OMIM:271650
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Small hand, Abnormal femur morphology, Long eyelas...	ORPHA:969
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Emphysema, Hepatitis, Hepatomegaly	ORPHA:60
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Cerebral calcification, Adrenal cal...	ORPHA:51608
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu...	ORPHA:98892
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l...	ORPHA:50251
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar...	OMIM:208060
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, Distal joint laxity...	ORPHA:1900
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis...	ORPHA:973
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac...	OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ...	OMIM:619468
Mitral Valve Prolapse 1	Pectus excavatum, Reversed usual vertebral column curves, Mitral valve prolapse	OMIM:157700
Acromegaloid Facial Appearance Syndrome	Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands, Short 5th metacarpal	OMIM:102150
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic...	ORPHA:634
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi...	OMIM:177170
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Limited elbow extension, Small hand, Short metatar...	OMIM:180870
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm	ORPHA:261102
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e...	ORPHA:1054
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox...	ORPHA:2140
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B...	OMIM:242700
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibod...	OMIM:619632
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal	ORPHA:2489
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta...	OMIM:620321
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal, Low posterior hairline	ORPHA:261524
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiph...	OMIM:612350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h...	ORPHA:3287
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira...	ORPHA:436
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi...	OMIM:601612
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre...	OMIM:618913
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Femoral h...	ORPHA:3342
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Pectus carin...	ORPHA:536467
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia,...	OMIM:201170
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit...	ORPHA:2557
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Pectus carinatum, Emphysema, Arachno...	ORPHA:558
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Rigid Spine Syndrome	Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Hyperlordosi...	ORPHA:97244
Dental Anomalies And Short Stature	Mitral valve prolapse, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vert...	OMIM:601216
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co...	OMIM:600593
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Hereditary Arterial And Articular Multiple Calcification Syndrome	Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus...	ORPHA:289601
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla...	ORPHA:185
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os...	OMIM:618395
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism	ORPHA:357175
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Cough, Recurrent phary...	ORPHA:397
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract...	ORPHA:365
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Double outlet right ventricle, Bronchiectasis, Cough, Recurrent oti...	OMIM:618254
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h...	OMIM:619178
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong...	OMIM:614473
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Pulmo...	OMIM:300887
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti...	OMIM:233600
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy...	OMIM:615524
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Igg4-Related Aortitis	Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury...	ORPHA:449400
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen...	OMIM:608971
Cap Myopathy	Thoracic scoliosis, Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal mu...	ORPHA:171881
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism	OMIM:615162
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Ventricul...	ORPHA:2962
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum...	OMIM:208050
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al...	OMIM:615559
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Lipoatrophy, Arachnodactyly, Lo...	ORPHA:284979
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Macs Syndrome	Joint laxity, Prolonged bleeding time, Brachydactyly, Dilation of Virchow-Robin spaces, Palpebral...	OMIM:613075
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:603909
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs...	ORPHA:1488
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Leri Pleonosteosis	Camptodactyly of finger, Abnormal finger morphology, Lack of skin elasticity, Abnormal form of th...	ORPHA:2900
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pectus excavatum, Ao...	ORPHA:2072
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Arachnodacty...	OMIM:617602
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Ulnar bowing, Shortening of all dist...	OMIM:619135
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Cholecystiti...	ORPHA:99827
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Acromesomelic Dysplasia 4	Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me...	OMIM:619636
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Temtamy Syndrome	Brachydactyly, Short toe, Aortic aneurysm, Joint hyperflexibility, Clinodactyly of the 5th finger...	ORPHA:1777
Rin2 Syndrome	Brachydactyly, Upper eyelid edema, Increased susceptibility to fractures, Abnormal sternum morpho...	ORPHA:217335
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Stroke, Precocious atherosclerosis, Mitral valve prolapse	ORPHA:230839
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Listeriosis	Back pain, Respiratory distress, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Con...	ORPHA:533
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on...	ORPHA:2302
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, E...	ORPHA:363705
Costello Syndrome	Thickened Achilles tendon, Ventricular septal defect, Redundant skin, Abnormal dental enamel morp...	ORPHA:3071
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Pectus exc...	OMIM:614437
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosu...	OMIM:616564
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Posterolateral diaphragmatic hernia, Inguinal hernia, Joint laxity, Sandal gap, Morga...	OMIM:613177
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Abnorm...	ORPHA:2804
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, T...	ORPHA:251071
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Keutel Syndrome	Sinusitis, Cerebral calcification, Tracheal calcification, Pulmonary artery hypoplasia, Emphysema...	OMIM:245150
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hydroureter, Hypospadias, Ventricular septal defect, Dextrocardia, Abnorm...	ORPHA:289
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav...	OMIM:617168
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contr...	OMIM:154700
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Aspiratio...	ORPHA:141152
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Mitral valve prolapse, Scoliosis, Aortic aneurysm	ORPHA:115
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Anemia, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, Emphysema,...	OMIM:620365
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s...	ORPHA:1520
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flexion con...	OMIM:224690
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse, Short neck	ORPHA:2233
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv...	OMIM:175050
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val...	OMIM:212093
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Contractural Arachnodactyly, Congenital	Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Shor...	OMIM:121050
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Odontochondrodysplasia	Respiratory distress, Bowing of the long bones, Coxa valga, Patent ductus arteriosus, Cone-shaped...	ORPHA:166272
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab...	ORPHA:666
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili...	OMIM:611717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Fragile X Syndrome	Pectus excavatum, Scoliosis, Mitral valve prolapse	OMIM:300624
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,...	OMIM:231005
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil...	ORPHA:90068
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Pauci-Immune Glomerulonephritis	Purpura, Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitia...	ORPHA:93126
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil...	OMIM:614399
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Eczema, Congestive heart failure, Short long bone...	OMIM:619751
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Cerebral calcification, Cardiomeg...	ORPHA:51
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguin...	ORPHA:90349
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Abnormal pleura morphology, Functional abnormality of the bladd...	ORPHA:2571
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary arter...	OMIM:619699
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse, Short neck	ORPHA:2183
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Boudin-Mortier Syndrome	Pectus excavatum, Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ...	ORPHA:77258
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Inguinal hernia, Joint laxity, Congestive heart failure, Dilata...	ORPHA:90348
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Pec...	OMIM:245600
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Ehlers-Danlos Syndrome, Hypermobility Type	Mitral valve prolapse	OMIM:130020
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Fragile X Syndrome	Ascending tubular aorta aneurysm, Mitral valve prolapse	ORPHA:908
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin, Obesity	OMIM:614962
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Hip subluxation, Squared iliac bones, High an...	OMIM:618853
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Microcephaly, Hyperlordosis, Right ventricular dilatation, Myopathy, Restrictive ve...	ORPHA:369840
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal	OMIM:619638
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan...	ORPHA:63442
Mosaic Trisomy 1	Thoracic scoliosis, Polyhydramnios, Congenital diaphragmatic hernia, Finger clinodactyly, Pulmona...	ORPHA:1692
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Dyspnea, P...	ORPHA:538
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Metaphyseal widening, F...	OMIM:263210
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Decreased muscle mass, Congenital hip dislocation, Redundant skin, Micr...	OMIM:612940
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Abnormality of the elbow, Fl...	ORPHA:263463
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded met...	OMIM:182250
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of...	OMIM:314400
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu...	ORPHA:284984
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Thick eyebrow, Bra...	OMIM:614684
Emanuel Syndrome	Chronic oral candidiasis, Sacral dimple, Recurrent respiratory infections, Ventricular septal def...	OMIM:609029
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia	ORPHA:438134
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Microcephaly, Synophrys, Abnormal rib morphology, Pectus carinatum, Radioulnar...	ORPHA:3268
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE leve...	ORPHA:2902
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal...	OMIM:300106
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolapse, Femoral bo...	OMIM:166200
Brucellosis	Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Abnormal aorti...	ORPHA:1304
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Sarcoidosis, Susceptibility To, 1	Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog...	OMIM:181000
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, C...	OMIM:601163
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Shoulder di...	OMIM:618000
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocated radial head...	OMIM:182212
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Enamel hypoplasia, Brachydactyly	OMIM:612463
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Aspergillosis	Sinusitis, Intracranial hemorrhage, Abnormal long bone morphology, Cough, Infectious encephalitis...	ORPHA:1163
Heparin-Induced Thrombocytopenia	Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia	ORPHA:3325
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Platyspondyly, Mitral valve prolapse	ORPHA:90653
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Alkaptonuria	Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcification, Kypho...	OMIM:203500
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Neonatal respiratory distress, Inguinal hernia, Finger syndactyly, Campt...	ORPHA:2990
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Cerebral calcification, Portal hypertension, Pectus ex...	OMIM:613658
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Pectus excavatum, Pectus carinatum, Mitral valve prolapse, Stroke, Scoliosis, Bic...	OMIM:236200
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn...	OMIM:123700
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonar...	OMIM:601186
Central Core Disease	Kyphoscoliosis, Mitral valve prolapse	ORPHA:597
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Sandhoff Disease	Cherry red spot of the macula, Recurrent respiratory infections, Kyphosis, Congestive heart failure	ORPHA:796
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE le...	ORPHA:98813
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Pectus ex...	ORPHA:500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Low ant...	OMIM:618658
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Abnorm...	ORPHA:3121
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Atelosteogenesis, Type Ii	Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia, Lumbar hyperlordosis...	OMIM:256050
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Long thorax, Abnormal mitral valve morphology	ORPHA:1277
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Thick eyebrow, Rocker botto...	ORPHA:2616
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Fabry Disease	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Transient isch...	ORPHA:324
Acrocallosal Syndrome	Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Cerebral berry aneurysm, Mitral valve prolapse	OMIM:173900
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:228410
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema, Generalized osteosclerosis, Macroglossia, Short long...	ORPHA:1423
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma...	ORPHA:958
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sparse eyelashes, Camptodactyly of finger, Abnormal hair pattern, Highly arche...	ORPHA:178303
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De...	OMIM:114100
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Eczema, Congenital diaphragmatic hernia, Sho...	ORPHA:1001
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles...	ORPHA:254361
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomia, Tubulointerstiti...	ORPHA:289390
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media	OMIM:312863
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Kne...	OMIM:619656
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Pes planus, Monkey wrench femoral neck, Single transverse...	OMIM:615777
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Pectus ca...	ORPHA:536545
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Abnormal form of the vertebral bodies, Coarctat...	ORPHA:371428
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ...	OMIM:615349
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Scolios...	ORPHA:555877
Temporal Arteritis	Retinal arteritis	OMIM:187360
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Webbed neck, Short ster...	OMIM:620076
Microlissencephaly	Pneumonia	ORPHA:1083
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ...	ORPHA:86812
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios...	ORPHA:380
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Optic Atrophy 8	Mitral valve prolapse	OMIM:616648
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Mitral valve prolapse	OMIM:211960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Abnormal hair morphology, Pectus excavatum, Abnormal thorax morphology, Flexion con...	ORPHA:1979
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Congenital diaphragmatic hernia, Hypertension, Osteolysis involving tarsal bones, Met...	OMIM:166300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Abnormal heart rate...	ORPHA:70588
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Inguinal hernia, Bicuspid aortic valve, Ventricular sept...	OMIM:130720
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte...	ORPHA:56
Diastrophic Dysplasia	Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Abnormal form ...	ORPHA:628
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Emanuel Syndrome	Recurrent respiratory infections, Sacral dimple, Multiple joint contractures, Ventricular septal ...	ORPHA:96170
Pde4D Haploinsufficiency Syndrome	Pes planus, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Micrognathia, Shor...	ORPHA:439822
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal pericardium morphology, Abnormal ...	ORPHA:2357
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped lo...	OMIM:151210
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement...	OMIM:115197
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, A...	ORPHA:536471
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Weill-Marchesani Syndrome 2	Short metacarpal, Striae distensae, Ventricular septal defect, Lumbar hyperlordosis, Hypoplasia o...	OMIM:608328
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septal defect, Pruritus, Nephrocalci...	OMIM:613404
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Pa...	ORPHA:2092
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse	ORPHA:137834
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Spina bifida occulta...	OMIM:150250
Takayasu Arteritis	Arteritis	OMIM:207600
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Calciphylaxis	Ectopic ossification, Arterial calcification, Cellulitis	ORPHA:280062
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy exp...	ORPHA:369873
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Pentalogy Of Cantrell	Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic...	ORPHA:1335
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-girdle muscular dyst...	ORPHA:369847
Camurati-Engelmann Disease, Type 2	Thoracolumbar scoliosis, Mitral valve prolapse	OMIM:606631
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia...	ORPHA:1427
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphosc...	ORPHA:230851
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Loeys-Dietz Syndrome	Abnormal bleeding, Arachnodactyly, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Pectus ...	ORPHA:60030
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Abnorm...	ORPHA:70475
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ...	ORPHA:2876
Legg-Calvé-Perthes Disease	Cartilage destruction, Skeletal muscle atrophy	ORPHA:2380
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Hand clenching, Abnormal pelvic ...	OMIM:157900
Diastrophic Dysplasia	Hip contracture, Flattened epiphysis, Genu valgum, Ulnar deviation of finger, Irregular epiphyses...	OMIM:222600
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa...	ORPHA:980
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Re...	OMIM:616069
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus excavatum, Lack of ...	OMIM:231050
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pectus excavatum, Mitral valve prolapse	OMIM:225320
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:609192
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in...	ORPHA:324604
Brachytelephalangic Chondrodysplasia Punctata	Laryngeal calcification, Cervical kyphosis, Tachypnea, Tracheal calcification, Atrial septal defe...	ORPHA:79345
Alg9-Cdg	Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal left ven...	ORPHA:79328
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu...	ORPHA:90308
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone...	ORPHA:66637
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ...	ORPHA:449395
X-Linked Intellectual Disability, Stocco Dos Santos Type	Recurrent respiratory infections, Kyphosis	ORPHA:85288
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Peripartum Cardiomyopathy	Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm...	ORPHA:563
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Meier-Gorlin Syndrome 4	Cryptorchidism, Emphysema, Breast hypoplasia	OMIM:613804
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu...	OMIM:156550
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P...	OMIM:215150
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Q Fever	Respiratory distress, Rheumatoid factor positive, Cholecystitis, Cough, Lupus anticoagulant, Infe...	ORPHA:781
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Multiple muscular ventr...	OMIM:620070
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Tapered finger, Recurrent upper re...	ORPHA:284180
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Ehlers-Danlos Syndrome, Classic Type, 1	Pectus excavatum, Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Recurrent low...	OMIM:130000
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Dpm3-Cdg	Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, ...	ORPHA:263494
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, White forelock, Abnormal diaphysis m...	ORPHA:2779
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat...	ORPHA:399086
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	ORPHA:34515
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Epidermal Nevus Syndrome	Osteopenia, Thoracolumbar scoliosis, Rhabdomyosarcoma, Weakness of long finger extensor muscles, ...	ORPHA:35125
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph...	OMIM:615290
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Abnormal thorax morpholog...	ORPHA:758
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab...	ORPHA:2790
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Diaphragmatic eventration, Ve...	OMIM:620025
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Micrognathia, Kyphosis, Lack of skin elasticity, Scoliosis, Joint contracture	OMIM:615381
Perching Syndrome	Respiratory distress, Joint contracture, Scoliosis, Camptodactyly	OMIM:617055
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Inguinal hernia, Lipodystrophy, Congenital hip dislocation, Subretinal pig...	ORPHA:357074
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa...	ORPHA:2633
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Lymphedema, Pectus excavatum, Telangiectasia, Intracran...	ORPHA:109
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, Generalized j...	OMIM:619472
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Pat...	ORPHA:477817
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat...	ORPHA:90117
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Short phalanx of fin...	OMIM:600430
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
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Recurrent skin infections, Joint sti...	OMIM:620210
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Trichorhinophalangeal Syndrome, Type I	Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr...	OMIM:190350
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Joint stiffness, Abnormal lung lobation, Abnormal aortic m...	ORPHA:2516
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ...	ORPHA:353
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:300991
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ...	OMIM:164900
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:610978
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Temtamy Syndrome	Aortic regurgitation, Hip dislocation, Aortic aneurysm, Short 2nd toe, Brachydactyly	OMIM:218340
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Flexion contracture, Coug...	ORPHA:77260
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Kyphosis, Scoliosis	ORPHA:1548
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Inflammatory abnormality of the skin, Medial calcification of large arteries, Eczema,...	ORPHA:391487
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Stickler Syndrome, Type I	Pectus excavatum, Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, ...	OMIM:108300
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells	OMIM:604809
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Mitral valve prolapse	ORPHA:3238
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Abnormal o...	OMIM:613686
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Myocarditis, Abnormal pulmonary interstitial morpholo...	ORPHA:81
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes	ORPHA:2611
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci...	OMIM:620265
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na...	OMIM:613848
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr...	ORPHA:2041
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Trisomy 1Q	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph...	ORPHA:261344
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Fryns Syndrome	Omphalocele, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal aortic arch mo...	ORPHA:2059
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Prominent fingertip pads, Respiratory distress, Sparse eyelashes, ...	OMIM:612863
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibo...	ORPHA:397596
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal thoracic spine morphology, Dilatation of the ventricular cavity, Abnormal hea...	ORPHA:85438
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia,...	ORPHA:991
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, Shor...	OMIM:143095
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Atrial septal defect, Ventricular septal defect, Nephrocalcinosis, Renal tu...	OMIM:208085
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Atrial septal defect, Osteomyelitis, Recurrent skin infections,...	OMIM:618282
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytos...	ORPHA:39041
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Arachnodactyly, Kyphoscoliosis, Tapered fing...	ORPHA:1600
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop...	OMIM:610910
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus...	ORPHA:555874
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Ventricu...	ORPHA:261330
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Lymphedema-Hypoparathyroidism Syndrome	Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:608644
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Pectus excavatum, Patent ductus arteriosus, Hemivertebrae, Mitral valve prolapse, Scoliosis	OMIM:104350
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ...	ORPHA:324410
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly, Recurrent oti...	OMIM:615993
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement	OMIM:614022
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pleuritis, Lumbar hyperlordosis, Pericarditis, Mitral valve prolapse	ORPHA:2848
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn...	OMIM:300580
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Knee flexion contracture,...	OMIM:619708
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Osteoporosis, Coa...	ORPHA:2409
Distal Duplication 5Q	Hypoplasia of the ulna, Micrognathia, Absent thumb, Hypoplasia of the radius, Hernia, Brachydactyly	ORPHA:96097
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Microcephaly, C...	OMIM:616897
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Recurrent respiratory infections, Short toe, Abnormal long bone morphology, Abnormal pelvic girdl...	OMIM:259270
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve...	ORPHA:464329
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de...	ORPHA:1329
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib morphology, ...	ORPHA:1834
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Abnormal cardiac septum morphology, Scoliosis, P...	ORPHA:2712
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Intrinsi...	OMIM:618569
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial n...	ORPHA:797
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Cardiofaciocutaneous Syndrome 2	Mitral valve prolapse	OMIM:615278
Thanatophoric Dysplasia	Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, ...	ORPHA:2655
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Neonata...	OMIM:608978
Ethanolaminosis	Cardiomegaly	OMIM:227150
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ...	OMIM:113000
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Kyphoscoliosis, Congenital diaphragmatic hernia, Atopic dermati...	ORPHA:412035
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Congenital diaphragm...	OMIM:200980
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Congenital diaphragm...	OMIM:616777
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ...	ORPHA:474
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Martsolf Syndrome 1	Pes planus, Short metacarpal, Inguinal hernia, Micrognathia, Metatarsus adductus, Slender ulna, S...	OMIM:212720
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnor...	ORPHA:2345
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Mitral valve prolapse	OMIM:225310
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Shortening of all distal phalanges of the toes, Shortening of all distal phalanges of the fingers...	OMIM:106995
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Polyphagia, Increased serum leptin, Obesity	OMIM:617885
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Type 1 muscle fiber predominance, Chronic otitis media, Increased variability in muscle fi...	OMIM:612949
Werner Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Rocker bottom foot, Abnormal hair whorl, Pulmonary ar...	ORPHA:902
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Umbilical hernia, Short metacarpal, Short metatarsal	OMIM:613328
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Hyperlordosis, Pectus carinatum, Mitral valve prolapse, Scoliosis, Atrial septal defect	OMIM:300986
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking ...	OMIM:230650
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Respiratory tract infe...	ORPHA:567548
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease...	OMIM:613845
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Respiratory insuffici...	ORPHA:238329
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Short neck, Atrial septal defect, Dysplastic aortic valve, Joint lax...	OMIM:601808
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	OMIM:600001
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trun...	ORPHA:536532
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Wrinkly Skin Syndrome	Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Lipodystr...	ORPHA:2834
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Flexion contracture, Short metatarsal, Cubitus valgus	OMIM:248800
Melnick-Needles Syndrome	Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Respiratory insufficiency, Co...	ORPHA:2484
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos...	ORPHA:139466
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Myocarditis, Leu...	ORPHA:188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Hepatomegaly, Pulmonary arterial hypertension, Dyspnea	ORPHA:422
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Polyhydramnios, Missing r...	ORPHA:2759
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity...	OMIM:617006
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ...	OMIM:611812
Brittle Cornea Syndrome 1	Mitral valve prolapse, Scoliosis, Spondylolisthesis	OMIM:229200
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Achondrogenesis Type 1B	Femoral hernia, Polyhydramnios, Short neck, Abnormal enchondral ossification, Short thorax, Abnor...	ORPHA:93298
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Primary Effusion Lymphoma	Pericardial effusion, Dyspnea, Pleural effusion	ORPHA:48686
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Sialidosis Type 2	Skeletal muscle atrophy, Inguinal hernia, Kyphosis, Dyspnea, Short thorax, Osteoporosis, Hydrops ...	ORPHA:87876
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Left a...	ORPHA:75249
Slc35A2-Cdg	Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ...	ORPHA:356961
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent foramen ovale, Synophrys, Patent ductus arteriosus, Hypertrophy of the urinar...	ORPHA:280633
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Cantu Syndrome	Ovoid vertebral bodies, Bicuspid aortic valve, Broad hallux, Curly eyelashes, Cardiomegaly, Peric...	OMIM:239850
Neonatal Alloimmune Neutropenia	Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Zaki Syndrome	Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arter...	OMIM:619648
Poland Syndrome	Unilateral absence of pectoralis major muscle, Dextrocardia, Unilateral hypoplasia of pectoralis ...	OMIM:173800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Cerebral hemorrhage, Abnormali...	OMIM:620278
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun...	ORPHA:3261
Neu-Laxova Syndrome	Skeletal muscle atrophy, Microcephaly, Abnormal eyelash morphology, Abnormal hair morphology, Mic...	ORPHA:2671
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le...	ORPHA:3392
Atypical Werner Syndrome	Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger cli...	ORPHA:79474
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology	ORPHA:276422
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal hair whorl, Vesicoureteral reflux, Pate...	OMIM:614261
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Femoral bowing, Narrow pelvis bone, S...	OMIM:616723
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ...	OMIM:602271
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morpho...	ORPHA:1797
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Mitral valve prolapse, Stroke, Restrictive cardiomyopathy, Mitral st...	OMIM:264800
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Von Willebrand Disease, Type 1	Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal angiodysplasia	OMIM:193400
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Co...	OMIM:614813
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, Short neck, Limitation of joint mob...	ORPHA:1486
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hi...	OMIM:618291
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Polyhydramnios...	OMIM:618188
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Pectus excavatum, Kyphosis, Mitral valve prolapse, Aortic root aneurysm, Narrow...	OMIM:616914
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, ...	ORPHA:100985
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ...	OMIM:183900
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia	OMIM:618453
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal dental enamel morphology, Abnormal pelvic ...	ORPHA:1458
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Tracheomalacia, Congen...	ORPHA:2745
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin...	OMIM:114300
Noonan Syndrome 3	Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Shield c...	OMIM:609942
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Thanatophoric Dysplasia Type 2	Polyhydramnios, Kyphosis, Patent ductus arteriosus, Short thorax, Increased nuchal translucency, ...	ORPHA:93274
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Polyhydramnios, Lateral clavicle hook, Respiratory insufficienc...	OMIM:615633
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Delayed epiphyse...	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinat...	OMIM:619910
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Symphalangism affecting the phalanges of ...	ORPHA:2741
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Overla...	OMIM:617022
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Increased co...	ORPHA:171430
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Aort...	OMIM:301039
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respirato...	ORPHA:99106
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Mitral valve prolapse	ORPHA:309155
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Polyhydramnios, Edema, Flex...	ORPHA:98905
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Limited elbow exte...	OMIM:618019
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Alport Syndrome	Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, N...	ORPHA:63
Achondroplasia	Respiratory distress, Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized join...	OMIM:100800
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:300978
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Atele...	ORPHA:2314
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ...	OMIM:614868
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta...	ORPHA:268249
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonar...	OMIM:620233
Andersen Cardiodysrhythmic Periodic Paralysis	Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S...	OMIM:170390
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis	OMIM:619705
Cohen Syndrome	Pes planus, Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Shor...	OMIM:216550
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Talipes equinovarus...	OMIM:607143
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C...	ORPHA:60041
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrh...	OMIM:615368
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra...	ORPHA:2255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Absent eyelashes, Fle...	ORPHA:90153
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morpholo...	ORPHA:1192
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Noonan Syndrome 14	Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Mitral valve prolapse...	OMIM:619745
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Pectus e...	ORPHA:2970
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis	OMIM:617087
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Po...	OMIM:617895
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty...	OMIM:271225
C Syndrome	Omphalocele, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydacty...	OMIM:211750
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification o...	OMIM:618392
Myopathy And Diabetes Mellitus	Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
15Q24 Microdeletion Syndrome	Joint laxity, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb morpho...	ORPHA:94065
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Farber Disease	Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,...	ORPHA:333
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Odontotrichoungual-Digital-Palmar Syndrome	Single transverse palmar crease, Abnormality of hair texture, Short first metatarsal, Prominent i...	OMIM:601957
Congenital Gerbode Defect	Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert...	ORPHA:99095
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ...	ORPHA:584
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:618454
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Polyhydramnios, Short neck, Abnormal...	ORPHA:93299
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Scoliosis, Mitral valve prolapse	ORPHA:449291
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary...	OMIM:313850
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Delayed epiphy...	OMIM:600785
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Noonan Syndrome 13	Short neck, Mitral valve prolapse, Enlarged thorax, Scoliosis, Atrial septal defect	OMIM:619087
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation	OMIM:618343
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Transaldolase Deficiency	Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Coarctation of ao...	ORPHA:101028
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Atrial Septal Defect, Sinus Venosus Type	Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul...	ORPHA:99105
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card...	ORPHA:444013
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H...	ORPHA:169160
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Cough, Situs inversus ...	OMIM:616037
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Abnormal rib cage morphology, Scoliosis, A...	OMIM:252605
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Kyphosis, Patent duct...	OMIM:619797
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur...	ORPHA:98863
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Cerebral calcification, Short neck, Pectu...	OMIM:617303
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n...	ORPHA:37042
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydac...	ORPHA:2519
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp...	ORPHA:36238
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Protein...	ORPHA:90060
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Short finger, Enamel hypoplasia, Brachydactyly	OMIM:103580
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter...	OMIM:619351
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f...	OMIM:605130
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Short palm, Ankle flexion contracture, Patent ductus arteriosus, Small hand...	OMIM:608799
Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98853
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis	OMIM:617404
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Recurrent fractures, Beaded rib...	OMIM:166210
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D...	ORPHA:178320
8P11.2 Deletion Syndrome	Sacral dimple, Patent ductus arteriosus, Mitral valve prolapse, Supernumerary ribs, Atrial septal...	ORPHA:251066
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated ...	OMIM:300219
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Patent ductus ar...	ORPHA:363528
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis	OMIM:606996
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Increased intervertebral space, Metaphyseal widening, Irregular vertebral...	OMIM:607944
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi...	OMIM:609813
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus ...	OMIM:619657
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em...	OMIM:613390
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Prolonged bl...	OMIM:618280
7Q11.23 Microduplication Syndrome	Sacral dimple, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Short neck, Pectus e...	ORPHA:96121
Waardenburg Syndrome Type 3	Atrial septal defect, Camptodactyly of finger, Atelectasis, White hair, Tracheomalacia, Thick eye...	ORPHA:896
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta...	ORPHA:45452
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Micrognathia, Small hand, Low anterior hairline, Thin eyebro...	ORPHA:1787
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Situs inversus totalis, W...	OMIM:613807
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis recti, Kyphosc...	OMIM:608149
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc...	OMIM:616835
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Osteoglophonic Dysplasia	Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of finger, Rhizom...	OMIM:166250
Lamellar Ichthyosis	Recurrent respiratory infections, Lack of skin elasticity, Sparse hair, Dry skin, Aplasia/Hypopla...	ORPHA:313
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel...	ORPHA:178148
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic...	OMIM:244400
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvi...	ORPHA:1988
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Abnormal sacroiliac joint morphol...	ORPHA:324964
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vert...	OMIM:608681
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial septal defect,...	OMIM:304120
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excav...	OMIM:249420
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Atrial se...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Atrial se...	ORPHA:363958
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Periostitis, Osteolysis, Fus...	OMIM:612852
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta...	ORPHA:454836
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Cerebral calcification, Facial palsy, Hyperlordosis, High iliac w...	ORPHA:2780
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency, Lower limb muscle weakness	OMIM:613364
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Mitral valve prolapse	ORPHA:98
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Polyhydramnios, Joint stiffness, Hypoplastic ilia, Abnorma...	ORPHA:1860
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid...	OMIM:277300
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Rocker bottom foot, Craniosynostosis, Congenital diaphragmatic her...	ORPHA:1272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P...	ORPHA:93267
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest...	ORPHA:228116
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Bell-shaped thorax, A...	OMIM:614857
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ...	ORPHA:86822
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, External genital hypoplasia, Cryptorchidis...	ORPHA:1867
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Classic Phenylketonuria	Hypopigmentation of hair, Lack of skin elasticity, Microcephaly	ORPHA:79254
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ...	ORPHA:99931
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, At...	ORPHA:728
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ...	OMIM:251450
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie...	OMIM:619126
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Micrognathia, Sparse eyebrow, Metaphys...	OMIM:250410
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac ...	OMIM:616300
Blau Syndrome	Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Retrobulbar optic neur...	ORPHA:90340
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness	ORPHA:488594
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Fg Syndrome Type 1	Sacral dimple, Mitral valve prolapse, Coarctation of aorta, Abnormal sternum morphology, Atrial s...	ORPHA:93932
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi...	OMIM:157800
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chroni...	OMIM:617577
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Abnormal cardiac s...	ORPHA:2370
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Increased nuchal ...	ORPHA:453499
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, Genera...	OMIM:620369
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Increased circulating IgE le...	OMIM:619752
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter...	OMIM:193670
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Greenberg Dysplasia	Laryngeal calcification, Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variati...	OMIM:215140
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the hum...	ORPHA:3098
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Co...	OMIM:617403
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infections, Dec...	OMIM:618183
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d...	OMIM:270100
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ...	OMIM:614294
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles	OMIM:606220
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Short neck, Flexion contracture, Pectus carinatum, ...	ORPHA:505248
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia...	OMIM:618300
Typical Nemaline Myopathy	Polyhydramnios, Short neck, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type ...	ORPHA:171436
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98855
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical...	OMIM:614608
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Po...	ORPHA:50945
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Thoracolumbar scoliosis, Craniosynostosis, Keratitis, C...	OMIM:618523
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Scoliosis, Mitral valve prolapse	OMIM:258450
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Short neck	ORPHA:1832
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Pectus excavatum, 3-4 fin...	OMIM:612530
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Osteoporosis, Scoli...	OMIM:614008
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia, Atrial s...	OMIM:145420
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung lobation, Congenital diaphragmati...	ORPHA:2063
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Umbilical hernia, Pulmonic stenosis, Right ventricular hypertrophy, ...	OMIM:616028
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te...	ORPHA:335
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Baralle-Macken Syndrome	Tapered finger, Microcephaly, Kyphosis, Hirsutism, Striae distensae	OMIM:619255
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchie...	OMIM:240500
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand...	OMIM:158310
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Hallux valgus, Polyhydramnios, Pectus exc...	OMIM:617180
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,...	ORPHA:94068
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Cantú Syndrome	Cardiomegaly, Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism,...	ORPHA:1517
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Polyhydramnios, Congenit...	ORPHA:887
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o...	ORPHA:3186
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Skin rash, Maculopapular exanthema, Crackles, Microsco...	ORPHA:319213
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Edema, Congestive heart failure, Myocar...	ORPHA:2331
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte...	OMIM:615952
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Inguinal hernia, Pes planus, Micrognat...	ORPHA:166035
Mgat2-Cdg	Osteopenia, Abnormal bleeding, Respiratory distress, Ventricular septal defect, Pectus excavatum,...	ORPHA:79329
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Ollier Disease	Abnormal cartilage morphology, Skin ulcer, Multiple enchondromatosis, Platyspondyly, Abnormal met...	ORPHA:296
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cerebral calcification, Joint stiffness, Kyphosis, Bone cyst, Scoliosis,...	ORPHA:2047
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Inguinal hernia, Pes planus, Coxa valga, Micrognathia, Advanc...	OMIM:618363
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect...	ORPHA:79128
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Congestive heart failure, Metaphyseal widening, Cone...	OMIM:617253
Diabetic Embryopathy	Ventricular septal defect, Abnormal sacrum morphology, Aplasia/Hypoplasia of the abdominal wall m...	ORPHA:1926
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ...	ORPHA:47612
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly,...	OMIM:309520
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria	OMIM:222100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Coccidioidomycosis	Respiratory distress, Abnormal long bone morphology, Cough, Morbilliform rash, Broad ribs, Vascul...	ORPHA:228123
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ...	OMIM:600373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hemivertebrae, Atrial septal defect, Emphysema, Lumbar hyperlordosis, A...	ORPHA:500150
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Thoracolumbar scoliosis, 2-3...	ORPHA:2437
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Coarctation of aorta	ORPHA:280195
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Loeys-Dietz Syndrome 5	Decreased muscle mass, Osteoarthritis, Pectus carinatum, Atrial septal defect, Bilateral coxa val...	OMIM:615582
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ...	OMIM:613179
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Pes planus, Single transverse p...	OMIM:123450
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl...	ORPHA:486815
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Elbow flexion contracture, Short clavicles, Congenital diaphragmatic hernia	OMIM:618022
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h...	OMIM:616733
Bardet-Biedl Syndrome 17	Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog...	OMIM:615994
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Distal lower limb amyotrophy, Mandibular prognathia, Sandal gap, Kyphosis,...	OMIM:300354
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuclear antibody ...	OMIM:619375
Alagille Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger	ORPHA:52
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Urinary bladder sphincter dysfunction	ORPHA:231445
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Classic Homocystinuria	Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Pulmonary embolism, Pectus exca...	ORPHA:394
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar...	OMIM:616414
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs	ORPHA:1647
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Tibial bowing, Femoral bo...	OMIM:610915
Holoprosencephaly	Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm...	ORPHA:2162
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata...	OMIM:259440
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Enamel hypoplasia, Brachydactyly	OMIM:612462
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Leopard Syndrome 1	Scapular winging, Kyphoscoliosis, Short neck, Missing ribs, Pectus excavatum, Complete atrioventr...	OMIM:151100
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morph...	ORPHA:261197
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Sho...	ORPHA:582
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia...	ORPHA:1801
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness	OMIM:610250
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot...	OMIM:615444
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ...	OMIM:154400
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Sparse eyelashes, Abnormal dental enamel morpholo...	ORPHA:2909
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Sag...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Sag...	ORPHA:352665
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Mac...	ORPHA:2867
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Scoliosis	OMIM:300934
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Refsum Disease	Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus	ORPHA:773
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Abnormality of the lower l...	ORPHA:245
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Yellow nails, Dyspnea, Nephropathy, ...	ORPHA:662
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno...	OMIM:106700
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Th...	ORPHA:139402
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber...	ORPHA:254864
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met...	ORPHA:2751
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Myopathy	ORPHA:26792
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho...	OMIM:217980
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu...	OMIM:620282
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Dystrophic fingernails, Absent eyebrow, Persistence of primary teeth, Abnormal thor...	ORPHA:740
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent urinary tr...	OMIM:618495
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Recurr...	OMIM:612289
Gm1 Gangliosidosis	Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red spot of ...	ORPHA:354
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Verteb...	OMIM:312870
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi...	OMIM:306955
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Frontometaphyseal Dysplasia 1	Scapular winging, Cor pulmonale, Mitral valve prolapse, Fused cervical vertebrae, Coat hanger sig...	OMIM:305620
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Cerebral calcification, Skin rash, Pneumonia, Bowing of the legs, Raynaud ...	ORPHA:1855
Pulmonary Hypertension, Primary, 5	Pulmonary arterial hypertension, Right ventricular hypertrophy, Exertional dyspnea	OMIM:265400
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Short ...	OMIM:222448
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky...	OMIM:603387
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Periodontitis, Internal hemorrhage, Abnormal bleeding...	ORPHA:286
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ankle clonus, Hypoplasia of the ulna	OMIM:615398
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Geleophysic Dysplasia 2	Ovoid vertebral bodies, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral ...	OMIM:614185
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice...	OMIM:222470
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Occipital Horn Syndrome	Osteopenia, Cerebral calcification, Venous insufficiency, Coxa vara, Pectus carinatum, Humerus va...	ORPHA:198
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Lymphangiectasia, Intestinal	Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs	OMIM:152800
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Short neck, Kyphos...	OMIM:618393
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Central diaphragmatic hernia, Sm...	OMIM:617450
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Situs inversus totalis...	OMIM:267010
Congenital Disorder Of Glycosylation, Type Iig	Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo...	ORPHA:97214
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Atelis Syndrome 1	Ventricular septal defect, Eczema, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thro...	OMIM:620184
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio...	ORPHA:404443
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver...	ORPHA:73230
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Shprintzen-Goldberg Syndrome	Missing ribs, Pectus excavatum, Abnormal form of the vertebral bodies, Pectus carinatum, Mitral v...	ORPHA:2462
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Short neck, Abnormal hand bo...	OMIM:200600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Dehydration, Cardiomyopathy, Stroke, Pancreatitis	ORPHA:79312
Autosomal Dominant Polycystic Kidney Disease	Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M...	ORPHA:730
Tibial Hemimelia	Absent tibia	OMIM:275220
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle ...	OMIM:611890
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Dyspnea, Right atrial enlargement, ...	ORPHA:1677
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Tubulointerstitial nephritis, Cough, Glomerulopathy, Abnormal pericardium mo...	ORPHA:183
Oligomeganephronia	Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehyd...	ORPHA:2260
X Small Rings	Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Short neck, Taper...	ORPHA:96201
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin...	OMIM:615816
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Omphalocele, Ventricular septal defect, P...	ORPHA:1199
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnormal eyelash morphology, Capitat...	OMIM:206920
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern...	OMIM:304110
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit...	ORPHA:1780
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture...	ORPHA:2590
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lu...	OMIM:230000
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Mitral valve prolapse	OMIM:606408
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Bowing of the long bones, Apnea, Abnormal pulmonary valve morph...	ORPHA:667
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Overlapping toe, Sho...	ORPHA:3309
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Macrocephaly	ORPHA:1513
Alpha-Mannosidosis	Craniofacial hyperostosis, Recurrent respiratory infections, Inguinal hernia, Bowing of the long ...	ORPHA:61
Radio-Tartaglia Syndrome	Thick eyebrow, Striae distensae, Ventricular septal defect, Highly arched eyebrow, Microcephaly, ...	OMIM:619312
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Hydrops fetalis, Pectus ...	OMIM:253220
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Hypophosphatasia, Infantile	Recurrent respiratory infections, Apnea, Craniosynostosis, Polyhydramnios, Bowing of the legs, Ve...	OMIM:241500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Macrogl...	OMIM:242860
Trisomy 13	Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnorm...	ORPHA:3378
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Ventricular septal defect, Pulmonary artery stenosis,...	ORPHA:85202
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczema, Kyphosis, Pectus carinatum, Hip dysplasia, Facial myokymia	OMIM:620007
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili...	ORPHA:1452
Spondyloocular Syndrome	Pectus carinatum, Shield chest, Mitral valve prolapse, Platyspondyly, Atrial septal defect, Verte...	OMIM:605822
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder, Autoimmune antibody positivity, Respiratory failure, Optic...	ORPHA:71211
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Short neck, Mitral valve prolapse, Ascending tubular aorta aneurysm, S...	ORPHA:444072
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Narrow chest...	OMIM:616546
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef...	ORPHA:542323
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis, Recurrent aspiration pneumonia, Polyhydramnios	OMIM:619971
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Polyhydramnios, Anterior tibi...	OMIM:114290
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h...	ORPHA:141127
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa...	OMIM:272460
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus excavatum, Kyphosis, Scoliosis, Pectus carinatum	ORPHA:276630
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Fl...	ORPHA:314588
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:250999
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hep...	OMIM:618278
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal def...	OMIM:600987
Intellectual Developmental Disorder, Autosomal Dominant 62	Scoliosis, Arachnodactyly, Striae distensae	OMIM:618793
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P...	OMIM:603671
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Stroke-like episode, Bradycardia,...	OMIM:619272
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Myopathy, Scoli...	OMIM:618234
Xq28 (MECP2) duplication	Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig...	DECIPHER:45
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin	ORPHA:319552
White-Sutton Syndrome	Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Patent ductus arteri...	OMIM:616364
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Autoimmunity, Dyspnea, Flexion contracture, Oliguria, Arthritis, Pulmonary f...	ORPHA:220393
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Kabuki Syndrome	Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of ...	ORPHA:2322
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O...	OMIM:260400
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia	OMIM:606164
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparath...	OMIM:239200
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, Pectus excavatum...	OMIM:618371
Gm1 Gangliosidosis Type 1	Spatulate ribs, Short long bone, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies,...	ORPHA:79255
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, In...	ORPHA:3260
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory ...	OMIM:252920
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck	ORPHA:2001
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n...	ORPHA:583
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Cerebral cal...	ORPHA:3035
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora...	OMIM:228520
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Poste...	OMIM:619698
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Inguinal hernia, Edema of the dorsum of feet, Edema of the dorsum of hands,...	ORPHA:544503
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Cohen Syndrome	Ventricular septal defect, Pectus excavatum, Kyphosis, Mitral valve prolapse, Scoliosis	ORPHA:193
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair...	OMIM:300232
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc...	OMIM:616433
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Dilated cardiom...	OMIM:615084
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Arachnodactyly, Kyphoscol...	ORPHA:75496
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, ...	OMIM:614080
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume ...	OMIM:108145
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Rothmund-Thomson Syndrome Type 2	Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones of the upper limbs, ...	ORPHA:221016
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Cornelia De Lange Syndrome 1	Inguinal hernia, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Short nec...	OMIM:122470
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Synophrys, Deep palmar crease, Long eyelashes, Hypertric...	OMIM:617190
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Plantar hyperkeratosis, Abnormal dental enamel morphology, Alopecia totalis, Me...	ORPHA:221008
Smith-Lemli-Opitz Syndrome	Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnorma...	ORPHA:818
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger	OMIM:181180
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Polyhydramnios, Centrally nucleated skeletal muscle fibe...	ORPHA:169189
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri...	ORPHA:3426
Noonan Syndrome 8	Curly hair, Ventricular septal defect, Eczema, Cryptorchidism, Patent ductus arteriosus, Hypertro...	OMIM:615355
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia,...	OMIM:618253
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Synophrys, Clinodactyly of the 5th finger, Short 5th met...	OMIM:617877
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Polyhydramnios, Ragged-red muscle fibers, Generalized amyotrophy, Scapular wi...	OMIM:620351
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Pulmonary l...	ORPHA:805
Melnick-Needles Syndrome	Recurrent respiratory infections, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae,...	OMIM:309350
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Melioidosis	Foot osteomyelitis, Unusual skin infection, Lung abscess, Liver abscess, Pneumonia, Brain abscess...	ORPHA:31202
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis	ORPHA:99825
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia...	OMIM:614096
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epiphy...	ORPHA:226313
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ...	ORPHA:192
Mucolipidosis Ii Alpha/Beta	Brittle hair, Cardiomegaly, Micrognathia, Metaphyseal widening, Sparse hair, Hepatomegaly, Thorac...	OMIM:252500
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal rib morp...	ORPHA:1666
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Anemia, Neutropenia	OMIM:604250
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med...	OMIM:613193
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Apnea, Venous insufficiency, Osteoarthritis, Genital hernia, Cystocele, Osteolys...	ORPHA:285
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus...	ORPHA:3082
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM le...	OMIM:616005
Gm1-Gangliosidosis, Type I	Thickened ribs, Abnormal heart valve morphology, Short neck, Kyphosis, Dilated cardiomyopathy, Hy...	OMIM:230500
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Perlman Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Edema, Hypoplasia of the abdominal wall musculat...	OMIM:267000
Dahlberg-Borer-Newcomer Syndrome	Mitral valve prolapse	ORPHA:1563
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,...	ORPHA:95699
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Gaucher Disease, Type Iii	Vascular calcification	OMIM:231000
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Bell-...	ORPHA:1803
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect, Scoliosis, Short neck	OMIM:616202
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, Pectus carinatum, Muscle...	ORPHA:98914
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short phalanx of f...	OMIM:300845
Congenital Myasthenic Syndrome	Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, Pectus carinatum, Muscle...	ORPHA:590
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Stiff Skin Syndrome	Lack of skin elasticity	ORPHA:2833
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec...	OMIM:620197
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Microcephaly, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis...	ORPHA:2522
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Polyhydramnios, Postaxial polydactyly, Patent ductus arteriosus, Postaxial ...	OMIM:617088
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Grant Syndrome	Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyper...	ORPHA:2097
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Pectus carinatum, Scoliosis	OMIM:611962
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos...	OMIM:602782
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Abnormal pulmonary va...	ORPHA:97287
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Polyuria	OMIM:620152
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen...	OMIM:618494
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Ren...	ORPHA:727
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Postinfectious Vasculitis	Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Recurrent stre...	ORPHA:48435
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Pectus excavatum, Mitral valve prolapse	OMIM:618874
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ...	OMIM:255200
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Short femur, Apn...	ORPHA:17
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral calcification, Cerebral hemorrhage, Secundum atrial...	OMIM:617397
Bartsocas-Papas Syndrome 1	Micrognathia, Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, S...	OMIM:263650
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Abnormal lymphocyte count, Thromboc...	ORPHA:79124
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, Splenomegaly, ...	ORPHA:158061
3C Syndrome	Recurrent respiratory infections, Inguinal hernia, Finger syndactyly, Ventricular septal defect, ...	ORPHA:7
Juvenile Temporal Arteritis	Conjunctivitis, Vasculitis, Cerebral ischemia, Allergic rhinitis	ORPHA:26137
Short-Rib Thoracic Dysplasia 12	Edema, Short neck, Polyhydramnios, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short pa...	OMIM:269860
Cartilage-Hair Hypoplasia	Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pec...	ORPHA:175
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Scoliosis, Congenital contracture	OMIM:615042
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuse...	OMIM:253250
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Anuria, Acute kidney injury, Pneumonia, Respiratory tract infect...	ORPHA:544482
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Zttk Syndrome	Absent gallbladder, Curly hair, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Un...	OMIM:617140
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Pollakisuria, Proximal m...	ORPHA:268
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Acetabular dysplasia, Broad thumb,...	OMIM:201180
Congenital Myopathy 24	Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance	OMIM:617336
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Pec...	OMIM:619383
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Idiopathic Pulmonary Arterial Hypertension	Abnormal jugular vein morphology, Increased pulmonary vascular resistance, Dyspnea, Elevated pulm...	ORPHA:275766
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Cleidocranial Dysplasia 1	Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti...	OMIM:119600
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Leopard Syndrome 3	Short neck, Shield chest, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Tet...	OMIM:613707
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Abnormal respiratory system physio...	ORPHA:505652
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	OMIM:211530
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il...	ORPHA:96334
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals...	OMIM:619424
Basal Ganglia Calcification, Idiopathic, 1	Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th...	OMIM:213600
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, P...	OMIM:619451
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse palmar crease, M...	OMIM:616145
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Radial deviation of the hand, Limited...	OMIM:218600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Bowing of the long bones, Small abnormally formed scapulae, Polyhy...	OMIM:187600
Craniorachischisis	Omphalocele, Bifid sternum, Congenital diaphragmatic hernia	ORPHA:63260
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Joint stiffness, Kyphosis, Respiratory insufficiency, Arteriove...	ORPHA:702
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Fanconi Anemia, Complementation Group F	Atrial septal defect, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorch...	OMIM:603467
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Pectus e...	OMIM:605275
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Spa...	OMIM:150230
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular...	OMIM:618651
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Weakness of facial musculature, Punctate va...	ORPHA:247691
Mitochondrial Complex I Deficiency, Nuclear Type 36	Microcephaly, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory...	OMIM:619170
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Autosomal Recessive Robinow Syndrome	Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,...	ORPHA:1507
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Polyhydramnios, Short neck, Congenital diaphragm...	ORPHA:373
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2470
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Abnormal femur morphology, Abn...	ORPHA:429
Arthrogryposis Multiplex Congenita 6	Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m...	OMIM:619334
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, V...	ORPHA:26793
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Protrusio acetabuli, Femoral retroversio...	OMIM:610682
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Fair hair, Metaphyseal irre...	OMIM:269920
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows of e...	ORPHA:163654
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato...	ORPHA:2771
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Facial pa...	OMIM:620186
White Forelock With Malformations	Atrial septal defect, Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent fingertip pads, Bicuspid aortic valve, Ventricular sep...	OMIM:610443
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co...	OMIM:602535
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
Alstrom Syndrome	Chronic active hepatitis, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Recurrent p...	OMIM:203800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Joint hypermobility, Craniosynostosis, Short ...	OMIM:617506
Renal Tubular Dysgenesis	Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot...	OMIM:267430
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent pneumonia, Abnor...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, O...	OMIM:252900
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic...	OMIM:301022
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Stroke, Cerebral ischemia	ORPHA:927
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/...	ORPHA:2145
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:881
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Po...	ORPHA:367
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu...	ORPHA:2463
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Pustule, Abnormal sacroiliac join...	ORPHA:793
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Recurrent respiratory infections, Respiratory distress, Polyhydramnios, Contractures ...	ORPHA:329178
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Osteo...	ORPHA:77259
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short metatarsal, Short 3rd metacarpal, Broad distal ph...	ORPHA:79444
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia, Abnormal heart morphology	ORPHA:79264
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, Sprengel...	ORPHA:800
Chops Syndrome	Curly hair, Thick eyebrow, Ventricular septal defect, Thick hair, Splenomegaly, Cryptorchidism, S...	OMIM:616368
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Sacral dimple, Joint laxity, Postaxial po...	OMIM:300968
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Microcephaly, Abnormal rib morphology, Abnormal epiphysis morph...	ORPHA:2643
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Occipital Horn Syndrome	Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hiatus hernia, O...	OMIM:304150
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo...	ORPHA:79404
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Alopecia, Autoimmun...	ORPHA:809
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog...	ORPHA:3068
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc...	OMIM:600081
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Short hallux, Metaphyseal widening, Abn...	OMIM:135100
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Noonan Syndrome 9	Ventricular septal defect, Short neck, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria	OMIM:560000
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Enamel hypoplasia, Vascular calcification	OMIM:211900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra...	ORPHA:258
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Short thumb, Patent ductus arteriosus, Abnormal thorax mor...	ORPHA:1708
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Recurrent urinary tract infections, Thick eyebrow, Hypospadias, Sparse eyelash...	OMIM:619293
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Coarctation of aorta, Vascular ring, Clinodactyly, Double aorti...	OMIM:616954
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:210122
Immunodeficiency 44	Lymphopenia	OMIM:616636
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Sotos Syndrome	Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Chronic o...	ORPHA:821
Cholera	Abnormality of renal excretion, Tachypnea, Stroke, Aspiration pneumonia, Acute kidney injury, Dec...	ORPHA:173
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Fe...	OMIM:616482
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia	OMIM:247610
Brittle Cornea Syndrome	Pulmonic stenosis, Scoliosis, Mitral valve prolapse	ORPHA:90354
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Fetal Alcohol Syndrome	Atrial septal defect, Congenital diaphragmatic hernia	ORPHA:1915
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries, Scoliosis	ORPHA:293181
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Carnitine Deficiency, Systemic Primary	Respiratory distress, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral...	OMIM:212140
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln...	ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio...	ORPHA:137914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Webbed neck, Short distal phalanx of finger	OMIM:601355
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy	OMIM:618237
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi...	ORPHA:308552
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Abnormal lung l...	ORPHA:508488
Developmental And Epileptic Encephalopathy 95	Short digit, Short fourth metatarsal, Multiple joint contractures, Inguinal hernia, Single transv...	OMIM:618143
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe...	OMIM:301044
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Recu...	OMIM:606721
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri...	OMIM:243910
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Microcep...	ORPHA:3242
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis	OMIM:300434
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Hurler Syndrome	Abnormal clavicle morphology, Recurrent respiratory infections, Abnormal heart valve morphology, ...	ORPHA:93473
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,...	ORPHA:1018
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217085
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:2326
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Congenital diaphragmatic hern...	OMIM:194080
Shigellosis	Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Leukocytosis, Thrombocyt...	ORPHA:810
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Cryptorchidism...	ORPHA:2953
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Joint contracture, Congenital diaphragmatic hernia, Cutaneous telang...	OMIM:615919
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Inte...	OMIM:618846
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Classical Ehlers-Danlos Syndrome	Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec...	ORPHA:287
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting	OMIM:618314
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Abnormal cardiac septum mo...	ORPHA:2075
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He...	ORPHA:2180
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wide-cupped costochondral jun...	OMIM:187601
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Kyphosis, Basal ganglia calcification, Flexion contracture, Subdural hem...	ORPHA:90324
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Patent foram...	ORPHA:576
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi...	OMIM:139210
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Bone cyst, Osteolysis, Coarctat...	ORPHA:2396
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspira...	ORPHA:2020
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye...	ORPHA:93346
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hypopl...	OMIM:607014
Dystonia 31	Abnormal posturing	OMIM:619565
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Myopathy, Chronic otitis m...	ORPHA:169090
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage...	OMIM:619040
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sco...	ORPHA:2181
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Pulmonary cyst	OMIM:618272
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, E...	ORPHA:2298
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov...	OMIM:252930
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217093
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Tubulointerstitial neph...	OMIM:251000
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mosaic Trisomy 14	Camptodactyly of finger, Abnormal rib morphology, Narrow chest	ORPHA:1703
Succinic Acidemia	Respiratory distress	OMIM:600335
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn...	ORPHA:3015
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Prolonged bleeding time, Angulated humerus, Bowing of the lon...	OMIM:616229
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,...	OMIM:300831
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol...	OMIM:163200
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga	OMIM:601370
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Atri...	OMIM:135900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met...	ORPHA:99646
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Absent palmar crease	OMIM:614230
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme...	ORPHA:57777
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Respiratory ...	ORPHA:3191
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hypoplastic iliac wing, Atrial septal...	OMIM:235510
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology	ORPHA:2772
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Amyo...	OMIM:312150
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Abnormal medullary...	ORPHA:79243
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia	ORPHA:309288
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Eczema, Kyphosis, Abnormal heart morphology, Congenital contracture, Joint contr...	ORPHA:352490
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str...	ORPHA:142
Multicentric Osteolysis, Nodulosis, And Arthropathy	Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis, Mitral valve prolapse	OMIM:259600
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory ab...	ORPHA:39812
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Mandibular prognathia, Kyph...	OMIM:231070
Congenital Enterovirus Infection	Abnormal bleeding, Respiratory distress, Skin rash, Fetal ascites, Polyhydramnios, Pericardial ef...	ORPHA:292
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem...	ORPHA:743
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode	OMIM:540000
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Familial Cervical Artery Dissection	Facial palsy, Striae distensae, Thin skin	ORPHA:36382
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Respiratory distress	OMIM:616974
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def...	ORPHA:439
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Rec...	OMIM:616507
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad me...	OMIM:266920
Xylt1-Cdg	Pes planus, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Short femoral neck, Short ...	ORPHA:370930
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Rhizomelic arm shortening, Panniculitis, Brachydactyly	ORPHA:508542
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ...	ORPHA:2021
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Short neck, Absent thumb, Patent ductus arteriosus, Abnormal lung loba...	OMIM:300514
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Micrognathia, Short toe, Atrophic scars, Limb undergrowth, Umbilical hernia, Sho...	OMIM:225410
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Pectus excavatum, Respiratory tract infection, Patent ductus arteriosu...	OMIM:180849
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Apnea, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Abn...	ORPHA:1052
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card...	OMIM:614921
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc...	OMIM:241530
Diarrhea 12, With Microvillus Atrophy	Respiratory tract infection, Bronchiectasis	OMIM:619445
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Brachydactyly, Overlapping toe, Sagittal cr...	ORPHA:221120
Focal Dermal Hypoplasia	Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger,...	OMIM:607015
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Transaldolase Deficiency	Ventricular septal defect, Short neck, Patent ductus arteriosus, Asthma, Coarctation of aorta, Te...	OMIM:606003
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hyperlordosis, S...	OMIM:314580
Costello Syndrome	Barrel-shaped chest, Ventricular septal defect, Short neck, Pneumothorax, Pectus carinatum, Mitra...	OMIM:218040
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Kyphoscoliosis, Pneumothorax, Mitral valve prolapse, Biventricular h...	OMIM:617402
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Hypoplasia of the thymus, Acne, Parathyroid age...	OMIM:188400
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Right ventri...	ORPHA:70591
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, Rocker bottom foot, Atrial septal defect, Patent fo...	ORPHA:89844
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Limitation of joint...	ORPHA:1545
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog...	ORPHA:254534
Rafiq Syndrome	Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Short neck, Flexion contracture, Cutis laxa...	OMIM:614202
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ...	ORPHA:3206
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Malaria	Respiratory distress	ORPHA:673
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Short 3rd metac...	ORPHA:79443
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Dysuria, Abnormal p...	ORPHA:35687
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn...	OMIM:232300
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Inguinal hernia, Overlapping fingers, Ventricular septal defect, Overlapping t...	ORPHA:464738
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscl...	OMIM:604377
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Kyphoscoliosis, Po...	OMIM:614557
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve morp...	ORPHA:580
Spinocerebellar Ataxia Type 25	Urinary urgency, Facial myokymia	ORPHA:101111
Legius Syndrome	Non-small cell lung carcinoma, Mitral valve prolapse, Abnormal sternum morphology, Pulmonic steno...	ORPHA:137605
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Kleefstra Syndrome	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci...	ORPHA:261494
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Short neck, Prominent fingertip pads, Atrial septal defect, Clinodactyly o...	OMIM:612474
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis	OMIM:300676
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f...	OMIM:307800
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl...	ORPHA:537
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Geroderma Osteodysplastica	Beaking of vertebral bodies, Mandibular prognathia, Redundant skin, Hip dislocation, Abnormal for...	ORPHA:2078
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Kyphosis, Facial erythema, Thin skin, Biconcave verteb...	OMIM:219090
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Amyo...	OMIM:253290
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Inguinal hernia, Micrognathia, High anterio...	OMIM:615546
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Enlarg...	OMIM:264700
Stevens-Johnson Syndrome	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor...	ORPHA:36426
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat...	OMIM:620099
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Broad thumb, Short dis...	OMIM:184460
Mogs-Cdg	Respiratory distress, Hepatomegaly, Alopecia, Fair hair, Thoracic scoliosis, Apnea, Hypoventilati...	ORPHA:79330
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of ...	ORPHA:48431
Cln3 Disease	Acne, Vacuolated lymphocytes, Left ventricular hypertrophy, Urinary bladder sphincter dysfunction...	ORPHA:228346
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Sialidosis Type 1	Skeletal muscle atrophy, Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus ca...	ORPHA:812
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Talipes equinovarus	OMIM:618845
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology, Vascular d...	OMIM:617641
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnormal heart morpho...	ORPHA:363700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Aortic regurgitation, Torticollis, Osteomyelitis, Bicuspid aortic valve, Ventricular s...	OMIM:619475
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hepatomegal...	OMIM:615846
Three M Syndrome 2	Relative macrocephaly, Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short n...	OMIM:612921
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb	OMIM:613951
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrocephaly, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ...	OMIM:200110
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo...	OMIM:252011
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbit...	ORPHA:904
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Secondary microcephaly, Atrial sept...	OMIM:618652
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy...	ORPHA:309282
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Short distal phalanx of the thumb, Neonatal respiratory distress, Psoriasiform dermat...	ORPHA:221139
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Broad metatarsal, Patent ductus...	OMIM:277600
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ...	ORPHA:254886
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Palpeb...	ORPHA:93672
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Micrognathia, Webbed neck, Mesomelia, Long eyelashes, Camptodactyly, Cli...	OMIM:616894
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Pectus excavatum, Flexion contract...	ORPHA:254528
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,...	ORPHA:3409
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Res...	OMIM:619909
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ...	OMIM:616866
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Pectus carinatum	ORPHA:319199
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra...	OMIM:300166
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna...	OMIM:268300
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Angina pectoris, Dyspnea, Increased muscle lipid content, A...	ORPHA:565612
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Edema, Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract infections, In...	OMIM:226300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Macrocephaly	ORPHA:1506
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Fanconi Anemia, Complementation Group I	Short thumb, Hypoplasia of the radius, Short 1st metacarpal, Absent thumb	OMIM:609053
Van Maldergem Syndrome 1	Short fourth metatarsal, Micrognathia, Abnormal foot morphology, Cutaneous finger syndactyly, Sho...	OMIM:601390
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy	ORPHA:79327
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ...	ORPHA:581
Nephronophthisis 11	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Osteopathia Striata With Cranial Sclerosis	Apnea, Polyhydramnios, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Br...	OMIM:300373
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis	ORPHA:37612
Mirage Syndrome	Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Intracranial hemorrhage, Scoliosi...	OMIM:617053
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Microcephaly, Dental malocclusion, Fine hair, Pectus carinatum, Abnormal p...	ORPHA:3079
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La...	OMIM:619269
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,...	ORPHA:263508
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Macrocephal...	ORPHA:42
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Yuan-Harel-Lupski Syndrome	Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm,...	OMIM:616652
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f...	OMIM:614299
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Abnormal lung lobation, Coarct...	OMIM:614114
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Cerebral calcification, Abnormal dental...	ORPHA:1798
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Cartilage destruction, Myocarditis, Splenomegaly, Recurrent pharyngit...	ORPHA:829
Pandas	Enuresis, Recurrent streptococcus pneumoniae infections	ORPHA:66624
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Arboleda-Tham Syndrome	Respiratory distress, Secundum atrial septal defect, Long thorax, Conjunctivitis, Narrow chest, A...	OMIM:616268
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Pectus carinatum, Periodontitis, Hernia, Decreased skull ossification, Pa...	ORPHA:955
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Thoracic kyphosi...	ORPHA:508498
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Respiratory tract infection, P...	ORPHA:567546
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe...	OMIM:153400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v...	ORPHA:500095
Rett Syndrome	Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic...	ORPHA:778
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Microcephaly, Micrognathia, Flexion contracture, Epiphyseal stippling, Abnormal pe...	OMIM:222765
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Microcephaly, Cardiomegaly, Hip dysplasia, Macrocephaly	OMIM:618798
Cystinosis, Nephropathic	Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hepatomeg...	OMIM:219800
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:604805
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Finger syndactyly, Cam...	ORPHA:2215
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho...	ORPHA:93352
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Limb Body Wall Complex	Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Broa...	ORPHA:2369
Alveolar Echinococcosis	Low back pain, Pulmonary cyst, Abnormal pelvis bone morphology, Abnormal pericardium morphology, ...	ORPHA:284
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear...	ORPHA:468678
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Thoracic hypoplasia, Microcephaly, Cardiomegaly, Splen...	OMIM:608013
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla...	OMIM:311900
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Edema, Polyhydramnio...	OMIM:200610
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ...	ORPHA:264200
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:605280
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607152
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothromb...	OMIM:614300
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Syndactyly, Aspiration pneumonia, Pectus carinatum	OMIM:616430
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct...	OMIM:617159
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Patent ductus a...	OMIM:300472
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypocalciuria, Nocturia, Renal potas...	OMIM:263800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Scapular winging, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:607459
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy...	ORPHA:158687
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Edema, Pericardial effusion, Respi...	ORPHA:2905
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda...	OMIM:260660
Neurooculorenal Syndrome	Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro...	OMIM:620305
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Lipoatrophy, Oligohydramnios	ORPHA:261304
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m...	ORPHA:906
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Gastrointestinal hemorrhage, Inguinal hernia, Congenital hip dislocation, Arachnodact...	OMIM:225400
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tub...	ORPHA:31826
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Facial palsy, Metaphyseal widening, Flared metaphysis, Abnormal pelvic gir...	OMIM:123000
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Neonatal respiratory distress, Anomalous rib inserti...	OMIM:117650
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Hyperzincemia With Functional Zinc Depletion	Skin rash, Vasculitis, Osteoporosis	OMIM:601979
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal...	OMIM:616294
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria	OMIM:125800
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Hyperlordosis, Pectus excavatum, Abnormal heart morphology, Mit...	OMIM:615873
X-Linked Mandibulofacial Dysostosis	Pectus excavatum, Abnormality of the pulmonary artery, Abnormal mitral valve morphology, Pulmonic...	ORPHA:1131
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Sh...	ORPHA:2617
Charge Syndrome	Aortic arch aneurysm, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Abnormal tibia morp...	ORPHA:138
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria	OMIM:304800
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	ORPHA:100994
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Micrognathia, Abnor...	ORPHA:90154
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fing...	OMIM:609128
Congenital Toxoplasmosis	Hepatomegaly, Microcephaly, Cardiomegaly	ORPHA:858
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy	OMIM:304700
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Hemivertebrae, Narrow chest,...	OMIM:213980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Congestive hear...	ORPHA:444077
Cranioectodermal Dysplasia 4	Pectus excavatum, Recurrent pneumonia, Decreased nasal nitric oxide, Cutis laxa, Hip dysplasia, C...	OMIM:614378
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypopla...	ORPHA:97362
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia	ORPHA:204
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Pycnodysostosis	Joint laxity, Abnormal clavicle morphology, Increased bone mineral density, Brachydactyly, Hyperl...	ORPHA:763
Spastic Paraplegia 3, Autosomal Dominant	Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy...	OMIM:182600
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Pectus excavatum, Kyphos...	OMIM:617061
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pectus excavatum, Pneumothorax, Mitral valve prolapse, Scoliosis, Tricuspid valve prolapse, Atria...	OMIM:601776
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Micrognathia, ...	ORPHA:85184
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R...	OMIM:615468
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam...	ORPHA:2008
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of capital femora...	ORPHA:397715
Scarf Syndrome	Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Low posterior hairline, Cutis...	ORPHA:3134
Infantile Krabbe Disease	Respiratory distress, Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscl...	ORPHA:206436
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Camptodactyly of finger, Rocker bott...	OMIM:619951
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly...	OMIM:146510
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we...	ORPHA:99013
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Inguinal he...	OMIM:136140
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Pectus excavatum, Hip dislocation, Cutis laxa, Distal amyotrophy, Hyp...	OMIM:219150
Au-Kline Syndrome	Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Craniosynostosis, Sagittal craniosynosto...	OMIM:616580
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr...	OMIM:617952
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary hypoplasia, Abnormal cartilage matrix, Respiratory insufficiency	OMIM:245650
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting	OMIM:612780
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Polyhydramnios, Limited elbow movement, Limited wrist movement, ...	OMIM:617809
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Micrognathia, Absent radius, Pr...	ORPHA:233
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Polyhydramnios, Cephalohematoma, Patent foramen ovale, Aplasia of the ri...	OMIM:619841
Spastic Paraplegia 8, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:603563
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia, Knee flexi...	OMIM:156400
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Pectus excavatum, Kyphosis, Faci...	ORPHA:3219
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:600363
Williams-Beuren Syndrome	Bicuspid aortic valve, Down-sloping shoulders, Kyphoscoliosis, Ventricular septal defect, Retinal...	OMIM:194050
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Joint hyperflexibility	ORPHA:1875
Stickler Syndrome	Recurrent respiratory infections, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral...	ORPHA:828
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Adducted thumb	ORPHA:50810
Tenorio Syndrome	Apnea, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Macroglossia, Recurrent aphthou...	OMIM:616260
Bohring-Opitz Syndrome	Syndactyly, Sacral dimple, Neonatal respiratory distress, Ventricular septal defect, Thick hair, ...	OMIM:605039
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy, Epiphyseal sti...	OMIM:256550
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Cerebral calcification, Kyphosis, B...	ORPHA:191
Noonan Syndrome 1	Abnormal bleeding, Pectus excavatum of inferior sternum, Ventricular septal defect, Kyphoscoliosi...	OMIM:163950
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramnios, Short neck, Congenital d...	OMIM:601803
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large...	ORPHA:49041
H Syndrome	Hallux valgus, Psoriasiform dermatitis, Lipodystrophy, Recurrent fractures, Recurrent pharyngitis...	ORPHA:168569
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars...	ORPHA:261112
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hyperextensibility of the finger joints, Patent ductus arteriosus, Cardiomy...	OMIM:135500
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Small hand, Short foot, Scoliosis, Abnormal ...	ORPHA:3095
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneu...	OMIM:616271
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Myositis, Skin rash, Periorbital edema, Abnormal sacroiliac joint morpho...	ORPHA:32960
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Scoliosis, Cardiomegaly	ORPHA:3137
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Facial palsy, Pustule, Respira...	ORPHA:68
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607565
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension	OMIM:619064
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Prominent fingertip pads, Sacral dimple, Inguinal hernia, Broad hallux phalanx, Sanda...	ORPHA:363611
Tetanus	Respiratory distress, Tachycardia, Stiff neck, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm...	OMIM:202650
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora...	ORPHA:731
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi...	ORPHA:3454
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Brachydactyly, Overlapping toe, Short nec...	ORPHA:177907
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Brachydactyly, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ...	OMIM:601812
Gaucher Disease, Type Ii	Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch	OMIM:230900
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Pectus carinatum	OMIM:614898
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular...	OMIM:264480
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morpho...	ORPHA:97685
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Umbilical hernia, Arthrogry...	OMIM:615834
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnor...	OMIM:128100
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio...	ORPHA:289157
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-...	OMIM:225500
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Dilated cardiomyopathy, Rib fusion, Spi...	ORPHA:1606
Pyknoachondrogenesis	Craniofacial hyperostosis, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing ...	ORPHA:3003
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Abnormal heart valve morphology, Short neck, Kyphosis, Congestive heart failure,...	OMIM:309900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Abnormal rib morphology, Low posterior hairline, Sco...	OMIM:118100
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Distal amyotrophy, Urinary bladder sphinc...	ORPHA:3115
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal...	ORPHA:2769
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ...	OMIM:615512
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Cerebral calcification, Kyphosis, Increased skull ossification, Craniof...	OMIM:618476
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Dysplastic tricusp...	ORPHA:1724
Isolated Atp Synthase Deficiency	Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Urinary incontinence	ORPHA:320365
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Spastic Paraplegia 10, Autosomal Dominant	Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Urinary...	OMIM:604187
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Abnormal lung lobation, Abnormal rib...	ORPHA:3301
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthri...	OMIM:106300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growth hormone...	ORPHA:293978
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Atrial septal de...	ORPHA:353281
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Tricuspid regurgitation, Abnormal dental enamel morphology, ...	ORPHA:2556
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s...	OMIM:300266
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, Short neck, Kyphosis, Abnor...	OMIM:248700
Scarf Syndrome	Barrel-shaped chest, Diastasis recti, Short neck, Low anterior hairline, Abnormal form of the ver...	OMIM:312830
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single...	OMIM:303600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Neonatal respiratory distress, Tapered toe, Apnea, Microcephaly, Cardiome...	OMIM:608836
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Lower limb muscle weakness, Urinary incontinence	OMIM:613096
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ...	ORPHA:1465
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Myocardial infarction, Stroke, Transient ischemic attack	OMIM:274150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia, Exer...	ORPHA:514
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Dyspnea, Thrombocytopenia, Premature graying of hair, Leukopenia, Inte...	OMIM:127550
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Mic...	OMIM:214800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Sprengel anomaly, Atrioventricular c...	OMIM:618929
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Sp...	OMIM:250250
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:182601
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Fryns Syndrome	Omphalocele, Ventricular septal defect, Polyhydramnios, Thin ribs, Aplasia of the left hemidiaphr...	OMIM:229850
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au...	ORPHA:227990
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ...	ORPHA:1110
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Leukopen...	OMIM:619488
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth...	OMIM:617143
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Adrenal hyperplasia, Polyuria	OMIM:613677
Hennekam-Beemer Syndrome	Camptodactyly of finger, Pneumonia, Pruritus, Respiratory insufficiency, Mastocytosis	ORPHA:2135
Galloway-Mowat Syndrome 3	Arachnodactyly, Edema, Hiatus hernia, Pectus excavatum, Hip dislocation, Coarctation of aorta, Hy...	OMIM:617729
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina...	OMIM:606071
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis	ORPHA:97285
Toriello-Carey Syndrome	Neonatal respiratory distress, Short neck, Patent ductus arteriosus, Coarctation of aorta, Cardio...	ORPHA:3338
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis, Inflammatory abnormality...	ORPHA:816
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu...	ORPHA:3472
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Asthma, Patent ductus art...	ORPHA:251061
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture	OMIM:620240
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Dysbetalipoproteinemia	Accelerated atherosclerosis, Acute pancreatitis, Angina pectoris, Type IV atherosclerotic lesion,...	ORPHA:412
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Facial ...	OMIM:615273
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Venous malformation, Myel...	ORPHA:79093
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Abnorm...	ORPHA:798
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Cardiomyopathy, Generalized amyotrophy, Increased variabili...	ORPHA:52430
15Q14 Microdeletion Syndrome	Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis	ORPHA:261190
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of hand bones, Polydact...	OMIM:109400
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Dilation of Virchow-Robin spaces, Scoliosis, Aspiration pneumonia	ORPHA:95232
Ogden Syndrome	Microretrognathia, Torticollis, Ventricular septal defect, Broad hallux, Pulmonary artery stenosi...	ORPHA:276432
Sepsis In Premature Infants	Hepatomegaly, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Leukocytosis, Thrombocytope...	ORPHA:90051
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Abnormal mitral valve morphology	ORPHA:1969
Restrictive Dermopathy 2	Respiratory distress, Overtubulated long bones, Short clavicles	OMIM:619793
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Pancreatitis	ORPHA:289916
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Cardiomeg...	OMIM:300855
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Mcdonough Syndrome	Pectus excavatum, Kyphosis, Scoliosis	ORPHA:2471
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology...	ORPHA:1133
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Microcephaly, Albinism, Micrognathia,...	OMIM:242840
Witteveen-Kolk Syndrome	Joint laxity, Inguinal hernia, Toe syndactyly, Overlapping toe, Eczema, Polyhydramnios, Congenita...	OMIM:613406
Hydrolethalus Syndrome 1	Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Recurren...	OMIM:234100
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pe...	OMIM:616449
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Short foot, Scoliosis, A...	OMIM:312750
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Polyhydramnios, Short neck, Rocker bottom foot, Kyphosis, Achilles...	OMIM:301041
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa...	OMIM:600460
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyot...	ORPHA:444099
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Autosomal Recessive Spastic Paraplegia Type 15	Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ...	ORPHA:100996
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Inguinal hernia, Femoral hernia, Conotruncal defect, Coarctation of aorta, ...	ORPHA:96147
Teratoma, Pineal	Polyuria	OMIM:273120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitra...	OMIM:617660
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,...	ORPHA:254346
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon...	OMIM:614609
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Microcephaly, Cardiomegaly, Tachypnea, Respiratory...	OMIM:201475
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Abnormal pleura morphology, Recurrent pharyngitis,...	ORPHA:3099
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Gitelman Syndrome	Prolonged QT interval, Respiratory distress, Cerebral calcification, Hashimoto thyroiditis, Peric...	ORPHA:358
Nasolacrimal Duct Cyst	Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato...	ORPHA:141083
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract...	ORPHA:2050
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira...	ORPHA:79138
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle...	OMIM:610967
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Apnea, Microcephaly, Cardiomegaly, Pectus exc...	ORPHA:97297
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Kyphosis, Thin skin, Striae distensae	OMIM:219080
Alagille Syndrome 1	Hypoplasia of the ulna, Short distal phalanx of finger	OMIM:118450
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Kyphosis, Abnormal cardiac septum morphology, Short neck	OMIM:608776
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Urinary bl...	OMIM:604360
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Jacobsen Syndrome	Recurrent respiratory infections, Inguinal hernia, Broad hallux phalanx, Ventricular septal defec...	ORPHA:2308
Interstitial Cystitis	Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a...	ORPHA:37202
Spastic Paraplegia 30, Autosomal Dominant	Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness	OMIM:610357
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria	OMIM:617671
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, Abnormal...	ORPHA:95455
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Respiratory arrest, Cardiomegaly	OMIM:600649
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P...	ORPHA:90362
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Sprengel anomaly, Scoliosis, Pulmo...	OMIM:618223
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic...	OMIM:108900
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lympho...	OMIM:619991
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femoral epiphysis, Upp...	ORPHA:93315
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Absent vertebr...	OMIM:134780
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo...	ORPHA:99845
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion	OMIM:235200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ...	ORPHA:353277
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Kabuki Syndrome 2	Joint laxity, Prominent fingertip pads, Hip dislocation, Coarctation of aorta, Recurrent otitis m...	OMIM:300867
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym...	OMIM:614162
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Malar flatt...	OMIM:269500
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Fibromuscular Dysplasia, Multifocal	Soft, doughy skin, Striae distensae, Micrognathia, Pectus excavatum, Hyperextensible skin, Scolio...	OMIM:619329
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy	OMIM:618891
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers	OMIM:613662
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Atrial septal defect, Joint laxity,...	ORPHA:480880
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence	ORPHA:306511
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Sandal gap, Facial palsy...	ORPHA:261349
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir...	OMIM:601495
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial os...	OMIM:618265
Hypoglossia With Situs Inversus	Situs inversus totalis, Upper airway obstruction, Respiratory distress	OMIM:612776
Congenital-Onset Steinert Myotonic Dystrophy	Neonatal respiratory distress, Facial hypotonia, Patent ductus arteriosus, Enuresis, Abnormal car...	ORPHA:589821
Hennekam Syndrome	Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, L...	ORPHA:2136
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia	ORPHA:35069
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Mi...	ORPHA:2886
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal defect, Ovoid verte...	OMIM:244450
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Mitral valve prolapse	ORPHA:369950
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Inguinal hernia, Tapered toe, Polyhydramnios, Ta...	ORPHA:544488
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Prominent veins on trun...	ORPHA:79083
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio...	OMIM:615547
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Mitral stenosis, Scoliosis, Subvalvular aortic stenosis	OMIM:619461
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Rhabdomyolysis, Oliguria, Respiratory...	ORPHA:159
Refsum Disease, Classic	Short fourth metatarsal, Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:266500
Gaucher Disease Type 3	Recurrent respiratory infections, Increased bone mineral density, Mitral valve calcification, Abn...	ORPHA:77261
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Short neck, Absent thumb, Conges...	OMIM:105650
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Brittle hair, Redundant skin, Abnormality of hair texture, Microcepha...	OMIM:219200
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Narrow chest, Atrial septal defect, Pat...	OMIM:613610
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea	ORPHA:615
Solitary Fibrous Tumor	Vaginal neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Urinary retention, Prostate canc...	ORPHA:2126
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Campomelia, Cumming Type	Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Lymphedema, Abnormal thor...	ORPHA:1318
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, ...	OMIM:259770
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,...	OMIM:244460
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus	OMIM:224410
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis	ORPHA:98805
Caudal Regression Syndrome	Decreased muscle mass, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sa...	ORPHA:3027
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ...	ORPHA:534
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi...	OMIM:261540
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Postaxial polydactyly, Tracheal stenosis, Sparse eyebrow, Short neck, Abnormal ...	OMIM:302960
C Syndrome	Omphalocele, Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Polyhydramnios, Pect...	ORPHA:1308
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Apnea, Bicuspid aortic valve, Aspiration pneumonia, Atrial septal defect, Vesicoureteral reflux, ...	ORPHA:438213
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Thick eyebrow, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia o...	OMIM:616007
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Alopecia, Delayed eruption of teeth, Sparse ...	ORPHA:2067
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m...	ORPHA:1328
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe...	ORPHA:79282
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Kyphosis, Abnor...	OMIM:212065
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Head titubation, Cutis laxa, Sparse hair, Woolly hair, Retrognathia, Trichorrhexi...	OMIM:619691
Prader-Willi Syndrome	Osteopenia, Hypoventilation, Recurrent respiratory infections, Decreased muscle mass, Syndactyly,...	OMIM:176270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr...	OMIM:220110
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base...	OMIM:269300
Cranioectodermal Dysplasia 3	Sandal gap, Short nail, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Doors Syndrome	11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit...	ORPHA:79500
Myhre Syndrome	Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral hernia, Joint stiffness, Abnor...	ORPHA:2588
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Respiratory insufficiency, Thin ribs	ORPHA:456328
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonary stenosis, Vitre...	OMIM:620185
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Coronary artery...	ORPHA:2348
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Sparse hair, Cubitus valgus, Frontal hirsutism, Short distal ...	OMIM:617157
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Foot dorsiflexor weakness, Scoliosis	OMIM:618124
Cornelia De Lange Syndrome	Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ...	ORPHA:199
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility, Pancreatitis	OMIM:610475
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Upper l...	OMIM:607259
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ...	ORPHA:556
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Distal Deletion 10Q	Atrial septal defect, Scapular winging, Widow's peak, Functional abnormality of the bladder, Pate...	ORPHA:96148
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Kyphoscoliosis, M...	ORPHA:97360
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Inguinal hernia, Long clavicles, Superficial dermal perivascular inflammato...	ORPHA:83617
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Chand Syndrome	Atelectasis, Hydroureter, Curly hair, Imperforate hymen	ORPHA:1401
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Alopecia, Myocarditis, Leukocytosis, Oliguria, Cardior...	ORPHA:31824
Japanese Encephalitis	Respiratory distress, Irregular respiration, Skeletal muscle atrophy, Stiff neck, Facial palsy, E...	ORPHA:79139
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis, Cutis laxa	OMIM:105120
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha...	ORPHA:100050
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta	OMIM:617260
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension, Umbilical hernia, Craniosynostosis	ORPHA:1555
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ...	OMIM:618493
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur...	ORPHA:2908
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am...	ORPHA:85450
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Dyspnea, Pate...	ORPHA:2554
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Auriculocondylar Syndrome	Respiratory distress, Vein of Galen aneurysmal malformation	ORPHA:137888
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Polyuria, Renal salt wasting, Increased urinary potassium,...	OMIM:601678
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Recurrent pneumonia,...	OMIM:612301
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Macrocephaly, Microcephaly, Right atrial enlargement	OMIM:615219
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Ramos-Arroyo Syndrome	Respiratory distress, Keratitis, Patent ductus arteriosus, Xerostomia, Atrial septal defect	ORPHA:1051
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Nar...	ORPHA:96061
Pruritic Urticarial Papules And Plaques Of Pregnancy	Skin vesicle, Palmoplantar erythema, Striae distensae, Facial erythema	ORPHA:64745
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Titubation, Hypomimic face, Abnormal posturing, Rec...	ORPHA:225147
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly	ORPHA:2707
Kasabach-Merritt Syndrome	Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Prolonged prothrombin time,...	ORPHA:2330
Proteus Syndrome	Decreased muscle mass, Lymphedema, Pulmonary embolism, Abnormal lung lobation, Abnormal finger mo...	ORPHA:744
Snakebite Envenomation	Intracranial hemorrhage, Muscle fiber necrosis, Rhabdomyolysis, Stroke	ORPHA:449285
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:273395
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency, Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyo...	ORPHA:100984
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ...	ORPHA:521426
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Pectus exca...	ORPHA:2789
Vacterl With Hydrocephalus	Absence of the sacrum, Inguinal hernia, Femoral hernia, Micrognathia, Hypoplasia of the radius, H...	ORPHA:3412
Iniencephaly	Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Polyhydramnios	ORPHA:63259
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress	OMIM:615597
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Lassa Fever	Dyspnea, Oliguria, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the kidney, Sparse eyebrow, Tubulointerstitial nephritis, Enure...	ORPHA:459061
Dent Disease 1	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Short toe, Keloids, Brachydactyly	ORPHA:3085
Clark-Baraitser syndrome	Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm	OMIM:300602
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Aspiration p...	ORPHA:94093
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Sc...	OMIM:619482
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip...	ORPHA:2044
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter, Stridor	OMIM:615595
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Microcephaly, Cardiomegaly	ORPHA:391428
Progeroid Syndrome, Petty Type	Mandibular prognathia, Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Long e...	ORPHA:2963
Trisomy 20P	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand ...	ORPHA:261318
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Limited elbow extension,...	ORPHA:845
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Abnormal lung lobation, Atrial septal defect, Clinodactyly of the 5th fing...	OMIM:607872
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Missing ribs, Patent ductus arteriosus, Hemivertebra...	OMIM:206900
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho...	ORPHA:2209
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Kagami-Ogata Syndrome	Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti...	ORPHA:254519
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Male pseudohermaphroditism, Macroorchidism...	ORPHA:90790
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete...	ORPHA:2795
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Abnormal heart morphology, Pelvic kidney, Camptodactyly, Joint contracture of the...	OMIM:247200
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Short metat...	OMIM:216340
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia	ORPHA:140952
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the vertebral...	OMIM:166600
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Lower limb muscle weakness, Urinary incontinence, Peroneal muscle atrophy	ORPHA:100989
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis	OMIM:614409
Gabriele-De Vries Syndrome	Hallux valgus, Facial hypotonia, Aortopulmonary collateral arteries, Sandal gap, Long fingers, Di...	OMIM:617557
Alexander Disease	Osteopenia, Cerebral calcification, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck...	ORPHA:58
Leptospirosis	Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Cough, Rhabdo...	ORPHA:509
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Abnormality of the musculature of the lower limbs, Hip dislocation, Scoliosis	ORPHA:464282
Cutis Laxa, Autosomal Recessive, Type Iiib	Flexion contracture, Elbow flexion contracture, Hip dislocation, Fine hair, Cutis laxa, Excessive...	OMIM:614438
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A...	OMIM:618733
Carpenter Syndrome 2	Short neck, Low anterior hairline, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pec...	OMIM:614976
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Hardikar Syndrome	Ventricular septal defect, Thoracolumbar scoliosis, Portal hypertension, Cholangitis, Hematemesis...	OMIM:301068
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria...	OMIM:612925
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Polyhydramnios, C...	ORPHA:116
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Micrognathia, Short metatarsal, Low posterior hairline, Webbed neck, Cubitus valgu...	ORPHA:1772
Adnp Syndrome	Respiratory distress, Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morph...	ORPHA:404448
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Hallux valgus, Multiple joint contractures, Ventricular septal defect, Ecze...	ORPHA:464306
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brittle hair, Short long bone, Short palm, Enamel hypoplasia, Brachydactyly	OMIM:619184
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement	OMIM:617047
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd...	OMIM:610536
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Pectus excavatum, Kyphosis, Vertebral segmentation defec...	ORPHA:96169
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Pectu...	ORPHA:464311
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
4Q21 Microdeletion Syndrome	Toe syndactyly, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Rocker bottom foot, Edema, Postaxial polydactyly, Kyphosis, Long fingers, Respiratory insu...	OMIM:617527
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ...	ORPHA:2658
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Pectus carinatum	ORPHA:500180
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Cutis laxa, Sparse...	OMIM:309400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegal...	OMIM:301072
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Ventricular septal defect, Scoliosis, Abnormal heart morphology	ORPHA:404440
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy...	OMIM:601214
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol...	ORPHA:2916
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Cal...	OMIM:607634
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Craniosynostosis, Hypertension, Limited elbow extension	OMIM:123790
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Erythema, Abnormal rib morphology, Skin ulce...	ORPHA:2907
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi...	ORPHA:1394
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency, Lower limb amyotrophy, Hand muscle weakness	ORPHA:320355
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Thin skin, Striae distensae	OMIM:610489
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra...	ORPHA:300605
Monosomy 9Q22.3	Delayed eruption of teeth, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib...	ORPHA:77301
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Spastic Paraplegia 84, Autosomal Recessive	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di...	OMIM:619621
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ...	ORPHA:672
Harrod Syndrome	Arachnodactyly, Microcephaly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnorm...	ORPHA:2115
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Macrocephaly	OMIM:268800
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Sho...	ORPHA:85293
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of...	ORPHA:251014
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia	OMIM:605309
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612926
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex...	ORPHA:298
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Premature graying of hair, Hepatomega...	OMIM:256040
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness	OMIM:609286
Plague	Abnormal bleeding, Chapped lip, Tachycardia, Respiratory distress, Skin rash, Edema, Hematemesis,...	ORPHA:707
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Congenital hip dislocation, Micrognathia, Patellar aplasia, I...	OMIM:606170
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Broad femoral neck, Short neck, Small hand, Abnormal rib morpholo...	ORPHA:488434
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Abnormal metacarpophalangeal joint morphology, Cardiomegaly,...	ORPHA:465508
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Aspir...	ORPHA:2131
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Inguinal hernia, Pectus excavatum, Reduced bone mineral density...	ORPHA:935
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc...	OMIM:236730
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Sudden episodic apnea, Urinary incontinence, Detrusor sphincter dyssynergia, ...	ORPHA:466722
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Macular edema, Corneal stromal edema, Pa...	ORPHA:209959
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612924
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Osteoporosis, Xerost...	ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Eczema, Short neck, Pectus excavatum, Kyphosis, Prominent protruding c...	OMIM:300966
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Bone cyst,...	ORPHA:3042
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Cockayne Syndrome Type 2	Scarring, Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis, Enamel hypoplasia, S...	ORPHA:90322
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Flexion contracture, Urinary urgency, Urinary retention, Aspi...	ORPHA:99027
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Meckel Syndrome, Type 1	Omphalocele, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly...	OMIM:249000
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Short neck, Patent ductus arteriosus, Coarctation of aorta...	OMIM:600268
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me...	ORPHA:163966
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Lower limb muscle weakness	ORPHA:171612
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Hypertrichosis, Short long bon...	OMIM:619479
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness	ORPHA:100999
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Atrial septal ...	OMIM:270400
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Inguinal hernia, Congenital hip dislocation, Hypoplasia of the musc...	OMIM:278250
Biotinidase Deficiency	Respiratory distress, Skin rash, Apnea, Conjunctivitis, Limb muscle weakness, Eczematoid dermatit...	ORPHA:79241
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Hypoplastic scapulae, Scoliosis	ORPHA:79107
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Ascites, Brachydac...	OMIM:602361
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Apn...	OMIM:619503
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Narrow chest, Generalized amyotro...	OMIM:264090
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t...	OMIM:618050
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pulmonary hypoplasia	OMIM:231680
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Oromandibular Dystonia	Respiratory distress, Torticollis	ORPHA:93958
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Atrial septal ...	OMIM:147920
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypo...	OMIM:192350
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Alopecia, Phimosis, Urinary bladder inflammation, Dyspnea, Pneumothorax,...	ORPHA:99921
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress, Polyhydramnios	ORPHA:990
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy	OMIM:600462
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Mitral valve calcification, Tricuspid regurgitation, Sandal gap, Decreased fibular di...	OMIM:619127
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Calcification of cartilage	ORPHA:1416
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H...	ORPHA:1005
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence	OMIM:616795
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis	OMIM:300942
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Moderate Hemophilia A	Cartilage destruction, Hip contracture, Intramuscular hematoma	ORPHA:169805
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Synophrys, Urinary urgency, Long eyelashes, Frontal upsweep of hair	OMIM:619286
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis...	ORPHA:568
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ...	ORPHA:2479
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Abnormal heart morphology, ...	ORPHA:268943
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Cardiomegaly	OMIM:105210
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Short neck, Fine hair, Cutis laxa, Hypoplasia of the zygoma...	OMIM:614800
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter...	ORPHA:163956
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo...	ORPHA:100991
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough	ORPHA:97349
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower limb amyotr...	OMIM:609195
Reactive Arthritis	Pericarditis, Abnormal pleura morphology, Cartilage destruction, Respiratory insufficiency, Pulmo...	ORPHA:29207
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Adrenocortical Carcinoma	Lung adenocarcinoma, Striae distensae, Hypertrichosis	ORPHA:1501
Niemann-Pick Disease Type C	Fetal ascites, Bone-marrow foam cells, Abnormal lung morphology, Aplasia/Hypoplasia of the abdomi...	ORPHA:646
Pmm2-Cdg	Osteopenia, Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Lip...	ORPHA:79318
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Microcephaly, Adducted thumb, Hip dislocation, Cutis laxa, Premature skin wrinkli...	OMIM:616603
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Nonimmune hydrops fetalis, Polyhydramnios, Elbow contract...	OMIM:208150
Cystic Fibrosis	Recurrent respiratory infections, Sinusitis, Absent vas deferens, Reduced forced expiratory volum...	ORPHA:586
Spinocerebellar Ataxia 25	Urinary urgency, Facial myokymia	OMIM:608703
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ...	OMIM:618443
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Hemoglobinu...	ORPHA:90038
Spastic Paraplegia 20, Autosomal Recessive	Flexion contracture, Urinary urgency, Distal amyotrophy, Camptodactyly, Lower limb muscle weakness	OMIM:275900
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, H...	OMIM:304050
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Hirsutism, Proximal amyotrophy	ORPHA:189427
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sphincter dysfunction, ...	OMIM:270700
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Kyphosis, Enamel hypoplasia, Limitation of ...	OMIM:216400
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Spinocerebellar Ataxia Type 42	Urinary urgency, Psoriasiform dermatitis, Urinary incontinence	ORPHA:458803
Pseudo-Torch Syndrome 3	Apnea, Respiratory insufficiency, Cardiomegaly	OMIM:618886
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Inguinal hernia, Mi...	OMIM:180700
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Absent t...	ORPHA:124
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ...	ORPHA:254892
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Osteomyelitis leading to amputation due to slow he...	OMIM:256810
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence...	ORPHA:64
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Anemia, Enuresis, Type 2 muscle fiber pr...	OMIM:619743
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Urinary bladder sphincter dysfunct...	ORPHA:53721
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Polyhydramnios, Short neck, Kyphosis, Cone-shaped epiphyses ...	ORPHA:420794
Pontine Tegmental Cap Dysplasia	Aspiration, Rib fusion, Facial palsy	OMIM:614688
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Asthma, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Fibrous syn...	ORPHA:1300
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Cerebral calcification, Ventricular septal defect, Kyphosis, Poste...	ORPHA:1393
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte...	OMIM:615343
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscle atrophy, Leg muscle sti...	ORPHA:137898
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Pectus excavatum, Kyphosis, Complete atrioventricular canal defect, Unilateral ra...	ORPHA:476126
Sandifer Syndrome	Torticollis, Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an...	OMIM:235400
Cushing Disease	Sparse scalp hair, Striae distensae, Skin ulcer, Proximal amyotrophy, Thin skin, Ecchymosis, Vert...	ORPHA:96253
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Mitral ...	ORPHA:261250
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Arachn...	ORPHA:2461
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist...	ORPHA:255210
Agel Amyloidosis	Facial palsy, Respiratory tract infection, Cutis laxa, Cardiomyopathy, Nail dystrophy, Sparse hai...	ORPHA:85448
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Arterial stenosis, Genu valgum, Multiple lipomas,...	ORPHA:636
Pachyonychia Congenita	Respiratory distress, Angular cheilitis	ORPHA:2309
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal...	OMIM:269150
Kinsship Syndrome	Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Synophrys, Hip dislocation...	OMIM:619297
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Hypogonadism, Urinary bladder sphincter dysfunction, Lower limb m...	OMIM:300100
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Short sternum	OMIM:258850
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul...	OMIM:220111
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Tapered finger, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pa...	OMIM:619480
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Dopamine Beta-Hydroxylase Deficiency	Dyspnea, Elevated urinary dopamine level, Anemia, Rhinitis, Nocturia	ORPHA:230
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:619259
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus exca...	ORPHA:3063
Spastic Paraplegia 29, Autosomal Dominant	Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia	OMIM:609727
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology	ORPHA:1876
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Pelizaeus-Merzbacher Disease	Urinary urgency, Congenital laryngeal stridor	OMIM:312080
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size	ORPHA:364028
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Dehydration	OMIM:251110
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence	ORPHA:100993
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory...	OMIM:618426
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Pectus carinatum, Scoliosis, Joint hypermobility	OMIM:617988
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del...	ORPHA:1652
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm...	ORPHA:93924
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Broad femoral neck, Increased intervertebral sp...	OMIM:619727
Central Diabetes Insipidus	Nocturia	ORPHA:178029
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Central hypoventilation, Decreased response to growth hormone stimulation test, ...	ORPHA:293987
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Cowden Syndrome 5	Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma	OMIM:615108
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles...	ORPHA:404454
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hemivertebrae, Perimembranous ventricular se...	OMIM:301040
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Eczema, Aplastic clavicle, Abnormal dental enamel morphology, Tarsa...	ORPHA:85199
Craniofacial Microsomia 1	Block vertebrae, Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arter...	OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Cho...	OMIM:301066
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Dehydration	OMIM:251100
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Congestive heart failure, Ascites, Polyhydramnios	OMIM:617156
Craniosynostosis And Dental Anomalies	Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger	OMIM:614188
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,...	ORPHA:3427
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Pectus excavatum, Kyphosis, Broad distal phalanx of the toes, Elbow ...	OMIM:619194
Elsahy-Waters Syndrome	Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Thick eyebrow, Br...	OMIM:211380
Cowden Syndrome 6	Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma	OMIM:615109
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Cerebellar calcifications, Kyphosis, Basal ganglia calcifica...	OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Foot join...	ORPHA:79408
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Cardiomegal...	ORPHA:96191
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Pallor, Cough, Pulmonary edema	ORPHA:137675
Rodrigues Blindness	Nasal flaring	OMIM:268320
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl...	OMIM:148050
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,...	ORPHA:69076
Spinocerebellar Ataxia 2	Distal amyotrophy, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:183090
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration...	ORPHA:199343
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Palpebral edema, Scoliosis	ORPHA:261144
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Sacral dimple, Juxtaductal coarctation of the aorta, Hypopla...	ORPHA:3310
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:607426
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Acne, Kyphosis, Macroglossia, Platyspondyly, Mitr...	OMIM:208400
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl...	ORPHA:50
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Leukocytosis, Pancreati...	ORPHA:99829
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Recurrent fractures, Pectus excavatum, Basal ganglia calcification, Osteo...	ORPHA:2785
Adrenomyeloneuropathy	Urinary incontinence, Frontal balding, Adrenocorticotropic hormone excess, Urinary urgency, Fine ...	ORPHA:139399
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mo...	ORPHA:228308
Abetalipoproteinemia	Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Myopathy, Respiratory failure, Distal lower limb musc...	ORPHA:14
Cowden Syndrome 1	Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma	OMIM:158350
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fus...	OMIM:194190
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Myopathy, Scoliosis, Proximal femoral ep...	OMIM:162300
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Intraalveolar phospholipid accumulation, Res...	OMIM:222700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Respirator...	OMIM:614748
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Decreased heart rate variability, Kyphosis, Increased femoral ante...	OMIM:619005
Overlap Myositis	Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m...	ORPHA:206572
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Preaxial hand polydact...	ORPHA:857
Cowden Syndrome	Brachydactyly, Pectus excavatum, Kyphosis, Bone cyst, Macroglossia, Scoliosis, Lipoma, Mucosal te...	ORPHA:201
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis	OMIM:619718
Nelson Syndrome	Abnormality of the sphenoid sinus, Striae distensae, Lower limb muscle weakness, Quadriceps muscl...	ORPHA:199244
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
Kearns-Sayre Syndrome	Ragged-red muscle fibers	OMIM:530000
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle stiffness	ORPHA:43
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Pectus excavatum, Kyphosis, Radial deviation of finger, Clinodactyly	OMIM:609944
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis, Aspiration	OMIM:613454
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:164400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost...	ORPHA:2232
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence	OMIM:603516
Machado-Joseph Disease	Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:109150
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy	ORPHA:88644
Alexander Disease Type Ii	Limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:363722
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Striae distensae, Small cell lung carcinoma, Skin ulcer, Proximal amyotrophy, ...	ORPHA:99889
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Abnormali...	ORPHA:261537
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Urinary bladder sphincter dysfunction	ORPHA:95
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Inguinal hernia, Omphalocele, Abnormal pelvis bon...	ORPHA:2273
Gaucher Disease	Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Abn...	ORPHA:355
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Aplasia of the sweat glands, Septic ar...	ORPHA:642
Shprintzen Omphalocele Syndrome	Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis	OMIM:182210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Eczema	OMIM:305100
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency, Distal amyotrophy, Peroneal muscle atrophy	OMIM:270550
Superficial Siderosis	Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormal vertebral artery morphol...	ORPHA:247245
Citrullinemia Type Ii	Enuresis, Pancreatitis, Hepatomegaly	ORPHA:247585
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Generalized amyotrophy, Urinary incontinence	OMIM:601162
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Rhabdomyolysis, Oliguria, Hypocapnia, Acute kidney injury, Thrombocytopenia	ORPHA:466650
Acute Transverse Myelitis	Urinary incontinence, Abscess, Subarachnoid hemorrhage, Autoimmunity, Systemic lupus erythematosu...	ORPHA:139417
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Hallux valgus, Sacral dimple, Inguinal hernia, Ventricular septal defect, A...	ORPHA:268261
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Spinocerebellar Ataxia Type 13	Urinary urgency, Torticollis, Urinary incontinence	ORPHA:98768
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Abnormali...	ORPHA:261552
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m...	ORPHA:79102
Primrose Syndrome	Skeletal muscle atrophy, Cerebral calcification, Flexion contracture, Reduced bone mineral densit...	OMIM:259050
Arachnoid Cyst	Encephalocele, Facial palsy, Urinary incontinence, Subarachnoid hemorrhage, Urinary bladder sphin...	ORPHA:2356
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Abnorma...	ORPHA:401973
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Ventricular septal defect, Renal agenesis,...	OMIM:619522
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Hip dislocation, Corneal scarring, Genu...	OMIM:309000
Branchiooculofacial Syndrome	Facial palsy, Supernumerary nipple, Microcephaly, Proximal placement of thumb, Short thumb, Preax...	OMIM:113620
Acromegaly	Palpebral edema, Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal steno...	ORPHA:963
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Brachydactyly, Short palm	ORPHA:466943
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai...	ORPHA:573278
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Mowat-Wilson Syndrome	Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Long toe,...	ORPHA:2152
Familial Chylomicronemia Syndrome	Precocious atherosclerosis, Pulmonary embolism	ORPHA:444490
Micro Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:2510
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers	OMIM:614924
Perineural Cyst	Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Distal lower limb musc...	ORPHA:65250
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Melas	Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Stroke-like episode	ORPHA:550
Somatomammotropinoma	Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, H...	ORPHA:314769
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, L...	ORPHA:457359
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary urgency, Pollakisuria, Lower limb hypertonia, Urinary incontinence	ORPHA:447753
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac...	OMIM:300960
Orthostatic Hypotension 1	Weakness of facial musculature, Nocturia, Reduced circulating prolactin concentration	OMIM:223360
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Aplasia/Hypoplasia of the sternum, Absent eyelas...	OMIM:219000
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Carney Complex	Cardiac myxoma, Hirsutism, Paranasal sinus neoplasm, Ductal carcinoma in situ, Striae distensae	ORPHA:1359
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Ragged-red muscle fibers	OMIM:603041
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Telangiectasia	OMIM:266270
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617011
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets	OMIM:252010
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Skeletal muscle atrophy, Urinary incontinence	OMIM:146500
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Stiff Skin Syndrome	Knee flexion contracture, Lipodystrophy, Elbow flexion contracture, Camptodactyly	OMIM:184900
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Hypomimic face	ORPHA:411602
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death	OMIM:124000
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	ORPHA:171629
Isolated Posterior Meningocele	Meningocele, Lipomyelomeningocele, Enuresis, Neural tube defect, Occipital meningocele	ORPHA:268810
Choreoacanthocytosis	Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy	ORPHA:2388
Parkinson Disease 14, Autosomal Recessive	Nocturia, Hypomimic face	OMIM:612953
Isolated Ectopia Lentis	Mandibular prognathia, Malar flattening	ORPHA:1885
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome		ORPHA:2084
Ectopia Lentis 1, Isolated, Autosomal Dominant		OMIM:129600

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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