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Gene: Hyal1 MGI:96298

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

hyaluronoglucosaminidase 1

Synonyms:

Hyal-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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 Hyal1 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 Hyal1 (2 diseases)
Human diseases predicted to be associated with Hyal1 (497 diseases)

The table below shows human diseases associated to Hyal1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis, Type Ix		Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Hyaluronidase Deficiency		Abnormal acetabulum morphology	ORPHA:67041

The table below shows human diseases predicted to be associated to Hyal1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K...	ORPHA:2619
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Peripheral Dysostosis	Osteoarthritis, Joint stiffness	ORPHA:1795
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Congenital Atransferrinemia	Abnormality of the pancreas, Arthritis	ORPHA:1195
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,...	ORPHA:93308
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation	ORPHA:2380
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,...	OMIM:600969
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum, Multip...	ORPHA:85198
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis	OMIM:618618
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os...	ORPHA:564003
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis	OMIM:606069
Pseudoachondroplasia	Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss...	ORPHA:750
Melioidosis	Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormal...	ORPHA:31202
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans	OMIM:165800
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue	ORPHA:2762
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ...	ORPHA:166002
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Pulmonary hypoplasia, T...	OMIM:245650
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Epiphyseal Dysplasia, Multiple, 1	Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste...	OMIM:132400
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility, Abnormal pleura morphology	ORPHA:2582
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu...	OMIM:607078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar...	ORPHA:85408
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Hypochondroplasia	Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum	ORPHA:429
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Joint stiffness	ORPHA:1345
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart...	ORPHA:99642
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth...	OMIM:208230
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp...	OMIM:617194
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Hepatosplenomegaly, Arthritis, Sterile...	OMIM:604416
Epiphyseal Dysplasia, Multiple, 2	Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum	OMIM:600204
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum	OMIM:271650
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge...	ORPHA:166011
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Arthritis, Hemosiderin...	OMIM:616414
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr...	ORPHA:77259
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis	ORPHA:90653
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis	ORPHA:42642
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Cartilage destruction, Recu...	ORPHA:829
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Pleuritis, Malar rash	OMIM:609939
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pericarditis, Recurrent ...	ORPHA:47612
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist	ORPHA:1657
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Sydenham Chorea	Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections	ORPHA:306731
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R...	OMIM:620321
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurre...	ORPHA:397596
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Arthritis	OMIM:300310
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis	OMIM:602390
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth...	ORPHA:85438
Pseudoachondroplasia	Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car...	OMIM:177170
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis...	ORPHA:1304
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o...	OMIM:251450
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple pterygia	OMIM:601809
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Osteoporosis	ORPHA:77296
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ...	OMIM:142680
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener...	ORPHA:93360
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca...	OMIM:618000
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K...	OMIM:616531
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Malar rash, Arthritis, Pleuritis, Nephritis	OMIM:152700
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis	ORPHA:567544
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ...	OMIM:616100
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Arthritis	ORPHA:37748
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Recurr...	OMIM:615559
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ...	OMIM:617468
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis	OMIM:604250
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita...	ORPHA:1427
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Joint swelling, Pleural ef...	ORPHA:85414
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Endocarditis...	ORPHA:449280
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit...	ORPHA:342
Ollier Disease	Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness	ORPHA:296
Spondyloepimetaphyseal Dysplasia, Missouri Type	Osteoarthritis, Limited elbow extension, Genu varum	OMIM:602111
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets	OMIM:307800
Vertical Talus, Congenital	Arthritis	OMIM:192950
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, ...	ORPHA:29207
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol...	ORPHA:47
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis si...	OMIM:617321
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Dupuytren contracture, Pneumonia, Limited elb...	ORPHA:39812
Alpha-Mannosidosis	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Arthritis, Chronic otitis media, Sy...	ORPHA:61
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Premature osteoarthritis, Recurrent pneumonia, Enlarged joints	OMIM:215150
Felty Syndrome	Splenomegaly, Rheumatoid arthritis	OMIM:134750
Mixed Connective Tissue Disease	Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Splenomegaly, Myocar...	ORPHA:809
Renal Tubular Dysgenesis	Joint hyperflexibility, Pulmonary hypoplasia	ORPHA:3033
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Recurrent respiratory infections, Osteoarthritis, Ivory epiphyses of the distal phala...	OMIM:190350
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis...	ORPHA:183675
Multiple Epiphyseal Dysplasia Type 4	Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Genu varum	ORPHA:93356
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout, Hepatic cysts	OMIM:618061
Gaucher Disease	Osteopenia, Hepatomegaly, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recur...	ORPHA:355
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed...	ORPHA:93314
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,...	ORPHA:575
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Episcleritis, Skin rash, Splenomegaly, Emphysema, Uveitis, Arthr...	ORPHA:36412
Fusariosis	Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype...	ORPHA:228119
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Septic arthritis, Arthritis	OMIM:619423
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Cinca Syndrome	Skin rash, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Arthritis	OMIM:607115
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Joint stiffness, Splenomegaly...	ORPHA:465508
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexio...	OMIM:617591
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In...	ORPHA:448237
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Delayed proximal femoral ep...	ORPHA:93296
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Pulmonary h...	OMIM:616867
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy...	ORPHA:77297
Farber Disease	Elevated hepatic transaminase, Abnormality of the knee, Intrahepatic cholestasis with episodic ja...	ORPHA:333
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Decreased skull ossification, Pulmonary hypoplasia	ORPHA:2141
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Wild Type Abeta2M Amyloidosis	Arthropathy, Arthritis	ORPHA:85446
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, ...	OMIM:614700
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Calcif...	ORPHA:3348
Aortic Aneurysm, Familial Thoracic 12	Arthritis, Spontaneous pneumothorax	OMIM:619825
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobil...	ORPHA:2796
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Loeys-Dietz Syndrome 5	Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture...	OMIM:615582
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Osteoarthritis, Biliary cirrhosis, Nephritis	ORPHA:2298
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma	OMIM:619510
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis	ORPHA:3165
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngitis, Endocard...	ORPHA:3099
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Pulmonary hypoplasia, Flat acetabular roof	OMIM:256050
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respiratory tract infection,...	ORPHA:36234
Polymyositis	Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Arthritis, Pulmonary fibr...	ORPHA:732
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,...	ORPHA:2614
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Myocarditis, Limitation ...	ORPHA:728
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Recurrent respiratory infections, Gout, Arthritis	ORPHA:411543
Lethal Congenital Contracture Syndrome Type 1	Abnormality of the elbow, Limitation of joint mobility, Recurrent fractures, Pulmonary hypoplasia	ORPHA:1486
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo...	OMIM:259100
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Roifman-Chitayat Syndrome	Osteopenia, Arthritis, Pneumonia	OMIM:613328
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla...	OMIM:612284
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Myocarditis, Uveitis, Arthritis, Pleuritis, I...	ORPHA:3452
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Overlap Myositis	Elevated hepatic transaminase, Subluxation of the small joints of the hand, Abnormal pulmonary in...	ORPHA:206572
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Abnormal lung lobation, Periportal fibrosis, Pulmonary hypoplasia, Decreased...	OMIM:263210
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis...	ORPHA:666
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Recurrent pharyngitis, Peri...	ORPHA:32960
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Pulmonary hypoplasia	OMIM:616733
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchioli...	OMIM:300755
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Arthritis, Crohn's disease, Pleu...	OMIM:249100
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice, Gout	OMIM:232800
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Odontochondrodysplasia 1	Recurrent respiratory infections, Genu recurvatum, Osteoporosis, Flat acetabular roof, Delayed os...	OMIM:184260
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Pulmonary hypoplasia	OMIM:601163
Microphthalmia, Syndromic 12	Pulmonary hypoplasia	OMIM:615524
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:253310
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Increased susceptibi...	OMIM:312150
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Respiratory tract infection, Bronchiec...	ORPHA:79128
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r...	ORPHA:183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Pulmonary hy...	ORPHA:86822
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Rheumatoid a...	ORPHA:100026
Stickler Syndrome	Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Osteoarthritis, Hip dis...	ORPHA:828
Marfan Syndrome	Genu recurvatum, Protrusio acetabuli, Flexion contracture, Emphysema, Pneumothorax, Premature ost...	OMIM:154700
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, E...	ORPHA:247353
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis, Pulmonary fibrosis	ORPHA:220393
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Increased susceptibi...	OMIM:253290
Mucopolysaccharidosis Type 2	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Limitation of joint mob...	ORPHA:580
Hunter-Macdonald Syndrome	Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c...	OMIM:611962
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Loeys-Dietz Syndrome 3	Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ...	OMIM:613795
Alg3-Cdg	Osteopenia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Decreased liver function	ORPHA:79321
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Cholestasis, Uveitis, Ulcerative colitis, Arthritis, Conjunc...	ORPHA:810
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Joint stiffness, Pulmonary hypoplasia, Joint hyperflexibility	ORPHA:2655
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Kniest Dysplasia	Hip contracture, Enlarged joints, Tracheomalacia, Delayed epiphyseal ossification, Limitation of ...	OMIM:156550
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Arthritis, Pleural effusion, Malar rash, Nephritis	ORPHA:93552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Multiple prenatal fractures, Flexion contracture, Pulmonary hypopla...	OMIM:616897
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Pulmonary hypoplasia, Poly...	OMIM:200995
Kawasaki Disease	Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis, Abnormal pulmon...	ORPHA:2331
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Arthrogryposis multip...	ORPHA:994
Congenital Tufting Enteropathy	Arthritis, Cholestatic liver disease, Punctate keratitis	ORPHA:92050
Riddle Syndrome	Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Arthritis...	ORPHA:420741
Hereditary Spherocytosis	Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Cholelithiasis	ORPHA:822
Pallister-Hall-Like Syndrome	Hip dislocation, Pulmonary hypoplasia	OMIM:241800
Matthew-Wood Syndrome	Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona...	ORPHA:2470
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Osteoporosis, Gou...	OMIM:232220
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Widely patent fontanelles and sutures	OMIM:267430
Giant Cell Arteritis	Pericarditis, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngitis, Arthritis, Hepa...	ORPHA:397
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Listeriosis	Pericarditis, Liver abscess, Stiff neck, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundice...	ORPHA:533
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Splenomegaly, Iridocyclitis, Emphysema, Bronchiectasis, Abnormal pulmonary intersti...	OMIM:181000
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Pneumothorax, Patellar hypoplasia, Abnormal pulmonary artery mo...	ORPHA:2257
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P...	ORPHA:228123
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia	ORPHA:3035
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Erythema nod...	OMIM:615688
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Mesenteric cyst, Pulmonary hypoplasia	OMIM:618316
Adiposis Dolorosa	Arthritis, Recurrent skin infections	ORPHA:36397
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Ankle swelling,...	ORPHA:3260
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero...	OMIM:608022
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Gl...	ORPHA:289390
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Kniest Dysplasia	Arthropathy, Enlarged joints, Joint stiffness, Delayed epiphyseal ossification, Abnormal joint mo...	ORPHA:485
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Abnormal lung morphology...	ORPHA:91139
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Flexion ...	ORPHA:90291
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Pulmonary h...	ORPHA:171430
Lymphatic Filariasis	Ankle swelling, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteo...	ORPHA:2035
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Infl...	OMIM:301074
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Osteoporosis, Gout, Hepatocellular carcinoma, Pancre...	OMIM:232200
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas...	ORPHA:731
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gou...	OMIM:232240
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm...	ORPHA:324625
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Multiple Osteochondromas	Abnormality of the knee, Abnormal cartilage morphology, Pneumothorax, Abnormal carpal morphology,...	ORPHA:321
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has...	ORPHA:90289
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Osteomalacia, Recurrent skin infections, Splenom...	OMIM:619381
Hyper-Igd Syndrome	Skin rash, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Arthritis, Chronic oral candidiasis, ...	OMIM:260920
Acromegaly	Joint swelling, Osteoarthritis, Acne	ORPHA:963
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Pulmonary hypoplasia, Genu varum	ORPHA:85166
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Gout	ORPHA:412
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Pulmonary hypoplasia	OMIM:602088
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Abnormal pulmonary interstitial...	ORPHA:227990
Kagami-Ogata Syndrome	Splenomegaly, Hepatomegaly, Flexion contracture, Pulmonary hypoplasia	OMIM:608149
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Pulmonary h...	OMIM:616866
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:236500
Atelosteogenesis Type I	Joint dislocation, Abnormal ossification involving the femoral head and neck, Pulmonary hypoplasi...	ORPHA:1190
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Dysplastic patella, Flexion contracture, Patellar aplasia, Hip dislo...	OMIM:265000
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy...	ORPHA:3261
Greenberg Dysplasia	Hepatomegaly, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, P...	OMIM:215140
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis, Pulmonary fibrosis	ORPHA:93672
Somatomammotropinoma	Joint swelling, Osteoarthritis	ORPHA:314769
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Abnormal pulmonary interstitial...	ORPHA:227982
Marden-Walker Syndrome	Radioulnar synostosis, Congenital contracture, Pulmonary hypoplasia, Camptodactyly, Joint contrac...	OMIM:248700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Osteoporosis, Hepatocellular adenoma, Gout, Increased susceptibility to...	ORPHA:79259
Lethal Kniest-Like Dysplasia	Abnormal cartilage morphology, Abnormal cartilage matrix	ORPHA:2347
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Pulmonary hypoplasia, Flat acetabular roof	OMIM:614091
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion contracture, Achilles ten...	OMIM:620369
Agnathia-Otocephaly Complex	Tracheomalacia, Pulmonary hypoplasia	OMIM:202650
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob...	ORPHA:89936
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobulbar optic neur...	ORPHA:90340
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis, Recurrent aspiration pn...	ORPHA:221139
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Acetabular spurs, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Keratit...	ORPHA:906
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Arthrogryposis multiplex co...	OMIM:608013
Genitopatellar Syndrome	Hip contracture, Patellar aplasia, Knee flexion contracture, Radioulnar synostosis, Pulmonary hyp...	ORPHA:85201
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Abnormality of the ankle, Respiratory infections in early life,...	ORPHA:96179
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ankylosis, Flexion contracture, Antecubital pterygium, Congenital co...	OMIM:616503
Mosaic Trisomy 1	Hepatic agenesis, Camptodactyly of finger, Elbow flexion contracture, Pulmonary hypoplasia, Pulmo...	ORPHA:1692
Marshall Syndrome	Recurrent otitis media, Knee osteoarthritis	OMIM:154780
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Repeated pneumothoraces, Large joint dislocations, Recur...	ORPHA:536467
Meckel Syndrome 14	Decreased calvarial ossification, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:619879
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Caudal Regression Syndrome	Abnormal vertebral segmentation and fusion, Pulmonary hypoplasia, Joint stiffness	ORPHA:3027
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Pulmonary hypoplasia	OMIM:224410
Plague	Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Abnormality ...	ORPHA:707
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Pulmonary hypoplasia, Sagittal craniosynostosis	OMIM:145420
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Multiple pterygia, Limitation of joint mobility, Antecubital pterygium, ...	ORPHA:2990
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cubitus valgus, Epiphyseal stippling, Pulmonary hy...	OMIM:214100
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Flexion contracture, Pulmonary hypoplasia, Limitation of joint mobility	ORPHA:1865
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Pneumothorax, Osteolysis, Joint hy...	ORPHA:286
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp...	ORPHA:221
Achondroplasia	Limited hip extension, Generalized joint laxity, Pulmonary hypoplasia, Recurrent otitis media, Li...	OMIM:100800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Pulmonary hypoplasia, Flat acetabular roof	OMIM:151210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:617895
Scimitar Syndrome	Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re...	ORPHA:185
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Distal Triplication 15Q	Flexion contracture, Pulmonary hypoplasia, Craniosynostosis, Camptodactyly	ORPHA:314588
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Multilobulated spleen, Bilateral lun...	OMIM:601186
Stuve-Wiedemann Syndrome 1	Enlarged joints, Pulmonary arterial medial hypertrophy, Osteoporosis, Elbow flexion contracture, ...	OMIM:601559
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Joint laxity, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasi...	OMIM:613177
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes...	OMIM:619708
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Subluxation of the small joints of the hand, Multiple joint contra...	ORPHA:536471
Sitosterolemia 1	Splenomegaly, Arthritis	OMIM:210250
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Pulmonary hypoplasia, Arthr...	ORPHA:2671
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Hip dislocation	ORPHA:958
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Osteomalacia, Recurrent fractures, Joint stiffness, Atelectasis...	ORPHA:534
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Respiratory tract infection, Myocarditis, Pleural empyema, Septic arthritis, Pleuritis...	ORPHA:544482
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Pu...	ORPHA:90652
Pericardial And Diaphragmatic Defect	Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Thanatophoric Dysplasia, Type I	Pulmonary hypoplasia	OMIM:187600
Microcephaly-Micromelia Syndrome	Humeroradial synostosis, Pulmonary hypoplasia, Craniosynostosis	OMIM:251230
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Hepatosplenomeg...	ORPHA:51
22Q11.2 Deletion Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Atelectasis, Abnormal lung lobation, Multiple suture c...	ORPHA:567
Congenital Tracheomalacia	Pneumonia, Tracheobronchomalacia, Pneumothorax, Partial anomalous pulmonary venous return, Bronch...	ORPHA:95430
Achondrogenesis, Type Ia	Abnormal hand bone ossification, Abnormal foot bone ossification, Pulmonary hypoplasia, Unossifie...	OMIM:200600
Tetrasomy 5P	Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Urinary bladder inflammation, Pneumothorax, Flexion con...	ORPHA:99921
Chromosome 13Q33-Q34 Deletion Syndrome	Prominent metopic ridge, Pulmonary hypoplasia, Camptodactyly	OMIM:619148
Pentalogy Of Cantrell	Absent gallbladder, Pulmonary hypoplasia, Polysplenia	ORPHA:1335
Atelosteogenesis Type Ii	Elbow dislocation, Elbow flexion contracture, Genu valgum, Pulmonary hypoplasia, Camptodactyly, T...	ORPHA:56304
Alg9-Cdg	Hepatomegaly, Prominent metopic ridge, Delayed cranial suture closure, Abnormal lung lobation, Pe...	ORPHA:79328
Chromosome 1Q41-Q42 Deletion Syndrome	Pulmonary hypoplasia	OMIM:612530
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Tetrasomy 9P	Joint dislocation, Absent gallbladder, Myositis, Pericarditis, Jaundice, Biliary atresia, Arthrit...	ORPHA:3310
Lethal Congenital Contracture Syndrome 10	Stiff neck, Pulmonary hypoplasia	OMIM:617022
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Atelectasis, Periportal fibrosis, Pulmonary hypoplasia	OMIM:269860
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Congenital Myopathy 17	Respiratory tract infection, Distal arthrogryposis, Pulmonary hypoplasia	OMIM:618975
Meier-Gorlin Syndrome 7	Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Mec...	OMIM:617063
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Pulmonary hypoplasia	OMIM:314390
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Splenomegaly, Recurrent upper respiratory tract infections, Flexion cont...	ORPHA:217085
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Biliary tract abnormality, Gout, Pancreatic hypoplasia, Exocrine p...	OMIM:137920
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Splenomegaly, Recurrent upper respiratory tract infections, Flexion cont...	ORPHA:217093
Czeizel-Losonci Syndrome	Pulmonary hypoplasia	ORPHA:2437
Meacham Syndrome	Accessory spleen, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Pulmonary hypoplasia, Pyelonephritis	OMIM:619351
Fabry Disease	Arthritis, Emphysema, Reduced bone mineral density	ORPHA:324
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundi...	ORPHA:99826
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis	OMIM:161700
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Joint stiffness, Splenomegaly, Arthritis, Chronic...	ORPHA:93
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology, Osteolysis, Osteochondrosis	ORPHA:2396
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Pulmonary hypoplasia	OMIM:271520
Orofaciodigital Syndrome Type 4	Joint dislocation, Recurrent respiratory infections, Camptodactyly of finger, Abnormal joint morp...	ORPHA:2753
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Gaisböck Syndrome	Splenomegaly, Cholecystitis, Gout	ORPHA:90041
Ogden Syndrome	Prominent metopic ridge, Congenital hip dislocation, Eczema, Delayed cranial suture closure, Micr...	OMIM:300855
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Pulmonary hypoplasia	OMIM:259775
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Flat acetabular roof, Pulmonary hypoplasia, Unicoronal synostosis	OMIM:616300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:263520
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Splenomegaly, Abnormal lung lobation, Hip dislocation, Epiphyseal stippling...	OMIM:270400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epiphyseal stippling, Congenital hip dislocation, Flexion contracture, Pulmonary hypoplasia	OMIM:308050
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Pulmonary hypoplasia	ORPHA:50945
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Osteoporosis, Pulmonary hypopla...	ORPHA:86309
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Decreased calvarial ossification, Pulmonary hypoplasia	OMIM:617925
Joubert Syndrome 21	Splenomegaly, Chronic sinusitis, Pulmonary hypoplasia	OMIM:615636
Esophageal Atresia	Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia, Esophagitis, Laryngotracheoma...	ORPHA:1199
Vacterl With Hydrocephalus	Hip dislocation, Pulmonary hypoplasia	ORPHA:3412
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Fetal Akinesia Deformation Sequence 1	Hip contracture, Elbow contracture, Camptodactyly of finger, Wrist flexion contracture, Congenita...	OMIM:208150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Fryns Syndrome	Ectopic pancreatic tissue, Chylothorax, Pulmonary hypoplasia, Polysplenia, Joint contracture of t...	OMIM:229850
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ...	ORPHA:642
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window	OMIM:620025
Meckel Syndrome, Type 1	Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Asplenia, Sp...	OMIM:249000
Pagod Syndrome	Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulm...	ORPHA:991
Gitelman Syndrome	Neoplasm of the pancreas, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalci...	ORPHA:358
Schinzel-Giedion Syndrome	Wormian bones, Recurrent pneumonia, Sclerosis of skull base, Radioulnar synostosis, Pulmonary hyp...	ORPHA:798
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pulm...	ORPHA:980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Wormian bones, Ulnar deviation of the wrist, Interphalangeal joint contracture of f...	ORPHA:96334
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Abnormal lung lobation, Pulmonary hypoplasia, Hip dislocation	ORPHA:818
Tarp Syndrome	Pulmonary hypoplasia, Widely patent fontanelles and sutures	ORPHA:2886
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Hip dislocation, Pulmonary hypoplasia	OMIM:200980
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Elbow dislocation, Pulmonary hypoplasia	ORPHA:1112
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:2388
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Pulmonary hypoplasia	OMIM:236700
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Cardiac-Urogenital Syndrome	Accessory spleen, Tracheomalacia, Hepatopulmonary fusion, Partial anomalous pulmonary venous retu...	OMIM:618280
Hyaluronidase Deficiency	Abnormal acetabulum morphology	ORPHA:67041
Distal Deletion 15Q	Generalized joint laxity, Hip dislocation, Pulmonary hypoplasia, Genu valgum	ORPHA:1596
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma...	ORPHA:3384
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Mosaic Trisomy 16	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:1708
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Lacrimoauriculodentodigital Syndrome	Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis	ORPHA:2363
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Widely pa...	ORPHA:1662
Fontaine Progeroid Syndrome	Craniosynostosis, Pneumothorax, Pulmonary hypoplasia, Coronal craniosynostosis, Recurrent aspirat...	OMIM:612289
Restrictive Dermopathy 1	Limb joint contracture, Ankylosis, Flexion contracture, Decreased calvarial ossification, Osteoly...	OMIM:275210
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel...	ORPHA:3455
Noonan Syndrome 1	Cubitus valgus, Chylothorax, Synovitis	OMIM:163950
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Patellar aplasia, Knee flexion contracture, Radiouln...	OMIM:606170
Neu-Laxova Syndrome 1	Pterygium, Joint contracture of the hand, Pulmonary hypoplasia, Camptodactyly	OMIM:256520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Pulmonary hypoplasia, Absent or m...	ORPHA:93271
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Hepatomegaly, Pulmonary artery stenosis, Supracardiac total ano...	ORPHA:99125
Fraser Syndrome 1	Pulmonary hypoplasia	OMIM:219000
Ulbright-Hodes Syndrome	Humeroradial synostosis, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Fraser Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2052
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Pallister-Killian Syndrome	Congenital hip dislocation, Flexion contracture, Hip dislocation, Camptodactyly of 2nd-5th finger...	OMIM:601803
Microphthalmia, Syndromic 1	Recurrent otitis media, Joint contracture of the hand, Pulmonary hypoplasia, Camptodactyly	OMIM:309800
Craniofacial Microsomia 1	Block vertebrae, Pulmonary hypoplasia, Genu valgum	OMIM:164210

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 Hyal1

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 Hyal1.

No publications found that use IMPC mice or data for Hyal1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hyal1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Hyal1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hyal1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Hyal1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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