Not currently registered for phenotyping at IMPC

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

Gene Summary

hyaluronoglucosaminidase 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Hyaluronidase Deficiency
Abnormal acetabulum morphology ORPHA:67041
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Acetabular erosions, Periarti... OMIM:601492

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

Disease Similarity of
Matching phenotypes Source
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ... ORPHA:1416
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon... OMIM:118610
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... ORPHA:563991
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis OMIM:216950
Mueller-Weiss Syndrome
Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri... ORPHA:566943
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity OMIM:130020
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ... ORPHA:93308
Congenital Atransferrinemia
Arthritis, Abnormality of the pancreas ORPHA:1195
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e... OMIM:600969
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis, Multip... ORPHA:85198
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling ORPHA:1525
Epiphyseal Dysplasia, Multiple, 2
Flattened knee epiphyses, Knee osteoarthritis, Genu varum OMIM:600204
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... ORPHA:564003
Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Osteoar... ORPHA:750
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis OMIM:165800
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification OMIM:618618
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Osteoarthritis, Hepatic steatosis OMIM:606069
Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, Hepatitis, Sept... ORPHA:31202
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Immunodeficiency 61
Recurrent respiratory infections, Recurrent otitis media, Recurrent sinusitis, Arthritis OMIM:300310
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su... OMIM:130060
Progressive Osseous Heteroplasia
Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility ORPHA:2762
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno... ORPHA:166002
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Tracheomalacia, Pulmona... OMIM:245650
Epiphyseal Dysplasia, Multiple, 1
Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit... OMIM:132400
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Genu varum, Genu valgum, Joint stiffness, Recurrent fractures, Osteoarthritis ORPHA:1822
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... ORPHA:85408
Widow'S Peak Syndrome
Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis OMIM:314570
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed tarsal ossification, Delayed ossification of carpal bones, Genu... OMIM:607078
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Arthritis, Limitation of joint mobility ORPHA:2582
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Hip contracture, Abnormality of the knee, Limited hip movement, Hip subluxati... ORPHA:99642
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Osteoarthritis, Joint hyperflexibility, Genu varum, Abnormality of the elbow ORPHA:429
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Progressive Pseudorheumatoid Dysplasia
Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod... OMIM:208230
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Hepatomegaly, Abnormal joint morphology, Abnormal sacroiliac joint morph... ORPHA:92
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor... ORPHA:93311
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Joint dislocation, Arthritis, Genu valgum, Osteomyelitis, Mandibular ... ORPHA:53
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Genu valgum, Limitation of j... ORPHA:93351
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Ab... ORPHA:3032
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Hepatosplenomegaly, Co... OMIM:604416
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Ulnar Hemimelia
Limited elbow flexion, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar... ORPHA:93320
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Limitation of joint m... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limited elbow extension, Capitate-hamate fusion, Genu valgum OMIM:271650
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology, Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossif... ORPHA:93284
Ehlers-Danlos Syndrome, Classic-Like, 2
Knee dislocation, Osteoporosis, Shoulder dislocation, Hip dislocation, Osteoarthritis OMIM:618000
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... ORPHA:231
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Pulmonary hemorrhage, Arthritis, Crescent... OMIM:616414
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Osteoarthritis OMIM:306800
Gaucher Disease Type 1
Hepatomegaly, Biliary tract obstruction, Osteopenia, Pathologic fracture, Splenomegaly, Hypersple... ORPHA:77259
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Arthritis, Splenomegaly, Recurrent pharyngitis ORPHA:42642
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Hepatitis, Pleuritis, Art... ORPHA:829
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility ORPHA:90653
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteop... ORPHA:85435
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis OMIM:601457
Wilson Disease
Hepatomegaly, Chondrocalcinosis, Hepatocellular carcinoma, Osteoporosis, Joint hypermobility, Cir... OMIM:277900
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology, Chroni... ORPHA:47612
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis, Osteolysis ORPHA:1657
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Joint swelling, Ul... OMIM:228000
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Septic arthritis, Endocarditis ORPHA:306731
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Desbuquois Dysplasia 1
Genu varum, Osteoporosis, Radioulnar dislocation, Joint dislocation, Advanced ossification of car... OMIM:251450
Prostatitis, Joint dislocation, Arthritis, Cartilage destruction, Reduced bone mineral density, C... ORPHA:56
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Hyperextensibility of the knee, Joint dislocation, Recur... OMIM:130000
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Limited hip extension, Genu varum, Irregular carpal bones, Delayed epiphyseal ossification, Genu ... OMIM:177170
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Oligoarthritis, Knee... ORPHA:85438
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pleuritis, Pericarditis, Arthritis OMIM:609939
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly OMIM:602390
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Bronchitis, Live... ORPHA:1304
Periodic Fever, Familial, Autosomal Dominant
Polyarticular arthritis, Hepatomegaly, Myositis, Oligoarthritis, Pleuritis, Hepatic amyloidosis, ... OMIM:142680
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Multiple pterygia OMIM:601809
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Laryngotracheomalacia, Multiple joint dislocation, Generalized joint laxity, Abnormal... ORPHA:93360
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Pleuritis, Arthritis, Malar rash OMIM:152700
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthritis, Abnormal... ORPHA:85410
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Ankle flexion contracture, Hip contracture, Arthrogryposis multiplex conge... OMIM:617468
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis, Recurrent s... ORPHA:33110
Wilson Disease
Hepatomegaly, Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Splenomegaly, Cirrhosis... ORPHA:905
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Arthritis, Recurrent lower respira... OMIM:616100
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... ORPHA:229717
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Elbow dislocation, Pulmonary hypoplasia, Camptodactyly of finger, Abnormal lung lobation ORPHA:2631
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Limitation ... ORPHA:69126
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Membranous nephropathy, Recurrent otitis media, Arthritis, Recurrent lower respirat... OMIM:615559
Schnitzler Syndrome
Hepatomegaly, Arthritis, Splenomegaly, Increased bone mineral density, Skin rash ORPHA:37748
Otospondylomegaepiphyseal Dysplasia
Abnormal joint morphology, Abnormally ossified vertebrae, Limitation of joint mobility, Enlarged ... ORPHA:1427
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... ORPHA:85414
Hemochromatosis, Type 3
Cirrhosis, Arthritis, Elevated hepatic transaminase OMIM:604250
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Pleuritis, Septic arthrit... ORPHA:449280
Familial Mediterranean Fever
Pericarditis, Peritonitis, Pleuritis, Arthritis, Pancreatitis, Splenomegaly, Acute hepatic failur... ORPHA:342
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Multiple enchondromatosis, Osteolysis ORPHA:296
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Genu varum, Limited elbow extension OMIM:602111
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Gout OMIM:618061
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Cartilage destruction, Ost... ORPHA:29207
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Pleuritis, Arthri... OMIM:617321
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... ORPHA:47
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Genu varum, Delayed epiphyseal ossificati... ORPHA:93314
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Recurrent pneumonia, Flexion contracture, Enlarged joints OMIM:215150
Vertical Talus, Congenital
Arthritis OMIM:192950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Hepatomegaly, Chronic otitis media, Arthritis, Splenomegaly, Synostosis of joints, Recurrent resp... ORPHA:61
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Elevated hepatic transamin... ORPHA:39812
Felty Syndrome
Rheumatoid arthritis, Splenomegaly OMIM:134750
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Recurrent respiratory infections, Liver abscess, Bronchitis, Allergic rhinitis, Epid... ORPHA:183675
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Myositis, Pleuritis, Arthrit... ORPHA:809
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Hypophosphatemic rickets OMIM:307800
Multiple Epiphyseal Dysplasia Type 4
Elbow flexion contracture, Metatarsal synostosis, Genu valgum, Dislocation of the femoral head, C... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Trichorhinophalangeal Syndrome, Type I
Osteoarthritis, Recurrent respiratory infections, Ivory epiphyses of the distal phalanges of the ... OMIM:190350
Stickler Syndrome, Type I
Arthropathy, Osteoarthritis OMIM:108300
Gaucher Disease
Hepatomegaly, Hepatitis, Joint dislocation, Arthrogryposis multiplex congenita, Osteopenia, Osteo... ORPHA:355
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Joint hyperflexibility ORPHA:3033
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Generalized bone demineralization, Delayed epiphyseal ossification, Hepatosplenomegal... ORPHA:93352
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Episcleritis, Joint dislocation, Arthritis, Splenomegaly, Uveitis, Inflammatory abn... ORPHA:36412
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Osteoporosis, Arthritis, Splenomegaly... ORPHA:465508
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Uveitis, Arthritis, Skin rash OMIM:120100
Sinusitis, Abnormality of the spleen, Lung abscess, Pneumonia, Bronchiectasis, Peritonitis, Myosi... ORPHA:228119
Cinca Syndrome
Patellar overgrowth, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash OMIM:607115
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... ORPHA:324964
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Arthritis, Septic arthritis, Osteomyelitis OMIM:619423
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Glycogen Storage Disease Vii
Gout, Cholelithiasis, Jaundice OMIM:232800
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent skin infections, Recurren... OMIM:610984
Muckle-Wells Syndrome
Hepatomegaly, Episcleritis, Arthritis, Splenomegaly, Uveitis, Skin rash, Camptodactyly of finger,... ORPHA:575
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:300755
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Infectious encephalitis, Arthritis, Cirrhosis, Skin ras... ORPHA:779
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... OMIM:301054
Idiopathic Camptocormia
Abnormal inflammatory response, Osteoarthritis, Myositis, Myelitis ORPHA:1320
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Abnormality of the liver, Vira... ORPHA:91138
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi... ORPHA:793
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Panniculitis, Arthritis, Splenomegaly, Skin rash, Flexion cont... OMIM:617591
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Pulmonary hypoplasia OMIM:615415
Hyaluronidase Deficiency
Abnormal acetabulum morphology ORPHA:67041
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Pulmonary hypoplasia, Flat acetabular roof OMIM:256050
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Hepatomegaly, Pustule, Syno... ORPHA:77297
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Decreased skull ossification, Pulmonary hypoplasia ORPHA:2141
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Psoriasis 14, Pustular
Cholangitis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis OMIM:614204
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Absent vertebral body mineralization, Abnormal ... ORPHA:93296
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Lesch-Nyhan Syndrome
Gout ORPHA:510
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Biliary cirrhosis, Osteoarthritis ORPHA:2298
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:307200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis... OMIM:614700
Rheumatic Fever
Sinusitis, Myocarditis, Pericarditis, Endocarditis, Arthritis, Abnormal pleura morphology, Recurr... ORPHA:3099
Moderate Hemophilia A
Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction, Limitation of joint mobility... ORPHA:169805
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Eczematoid dermatitis, Hepatomegaly, Genu varum, Neoplasm of the lung, Seborrheic dermatitis, Ost... ORPHA:2796
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Septic arthritis OMIM:617780
Eosinophilic Fasciitis
Fasciitis, Arthritis, Myositis ORPHA:3165
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Pulmonary hypoplasia, Hepatic fibrosis OMIM:612284
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple prenatal fractures, Flexion co... OMIM:616867
Psoriasis-Related Juvenile Idiopathic Arthritis
Polyarticular arthritis, Psoriasiform dermatitis, Abnormality of the knee, Oligoarthritis, Sacroi... ORPHA:85436
Hepatomegaly, Chondrocalcinosis, Pericarditis, Arthritis, Abnormal pulmonary interstitial morphol... ORPHA:732
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Blau Syndrome
Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,... OMIM:186580
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Oligoarthritis, Pulmonary fibrosis, Recurrent respiratory infections OMIM:619510
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... ORPHA:36234
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Congenital finger flexion contractures, Joint hypermobility, Eosinoph... OMIM:615582
Farber Disease
Abnormality of the knee, Abnormality of the elbow, Hepatic fibrosis, Elevated hepatic transaminas... ORPHA:333
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601160
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Craniosynostosis, Arthritis, Osteopoikilosis, Flexion contracture, Jo... ORPHA:1306
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Recurrent fractures, Pulmonary hypoplasia, Abnormality of the elbow ORPHA:1486
Nail-Patella Syndrome
Abnormality of the knee, Cubitus valgus, Reduced bone mineral density, Contracture of the distal ... ORPHA:2614
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Arthritis, Limitation of joint mobility, Recurrent aphthous stomatitis ORPHA:343
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Limited hip movement, Limited shou... OMIM:203500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Osteoporosis, Wormian bones, Arthritis, Osteopenia,... OMIM:259100
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Flexion contracture OMIM:616733
Overlap Myositis
Arthritis, Abnormal pulmonary interstitial morphology, Subluxation of the small joints of the han... ORPHA:206572
Whipple Disease
Myocarditis, Hepatomegaly, Infectious encephalitis, Pericarditis, Myositis, Pleuritis, Arthritis,... ORPHA:3452
Osteogenesis Imperfecta
Pulmonary hypoplasia, Fractures of the long bones, Increased susceptibility to fractures, Osteopo... ORPHA:666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Pulmonary hypop... OMIM:263200
Lyme Disease
Joint swelling, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Peritonitis, Myositis, Abnormal sacroiliac joint morphology, Fasciitis, Pleuritis, ... ORPHA:32960
Tracheobronchopathia Osteochondroplastica
Pneumonia, Esophagitis, Calcification of cartilage, Recurrent pneumonia, Recurrent respiratory in... ORPHA:3348
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Peritonitis, Pleuritis, Arthritis, Splenomegaly, Crohn's disease, Ple... OMIM:249100
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Osteopenia OMIM:613328
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Chronic gastritis, Arthritis, Colitis OMIM:608809
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t... ORPHA:371428
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Decreased skull ossification, Flexion contracture, Pulmonary hypoplasia, ... OMIM:263210
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Recurrent respiratory infections, Gout, Arthritis ORPHA:411543
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Osteoarthritis of the small ... ORPHA:284984
Pallister-Hall-Like Syndrome
Hip dislocation, Pulmonary hypoplasia OMIM:241800
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Decreased skull ossification, Pulmonary hypoplasia OMIM:601163
Odontochondrodysplasia 1
Genu varum, Osteoporosis, Genu recurvatum, Joint hypermobility, Delayed ossification of carpal bo... OMIM:184260
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Zika Virus Disease
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Skin rash, Maculopapular exan... ORPHA:448237
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:253310
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:312150
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Subpleural interstitial thickening, Eczema, Hepatomegaly, Bronchiecta... ORPHA:79128
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Arthritis, Recurren... ORPHA:183
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia, Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Epiphyseal s... ORPHA:86822
Stickler Syndrome
Chronic otitis media, Joint dislocation, Reduced bone mineral density, Genu valgum, Hip dislocati... ORPHA:828
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increased inflammato... ORPHA:727
Kniest Dysplasia
Hip contracture, Recurrent otitis media, Delayed epiphyseal ossification, Hip dislocation, Abnorm... OMIM:156550
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... ORPHA:728
Marfan Syndrome
Pulmonary artery dilatation, Pneumothorax, Genu recurvatum, Joint hypermobility, Protrusio acetab... OMIM:154700
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:253290
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis OMIM:304790
Mucopolysaccharidosis Type 2
Hepatomegaly, Hip osteoarthritis, Abnormal epiphyseal ossification, Splenomegaly, Recurrent upper... ORPHA:580
Sitosterolemia 1
Abnormality of the liver, Arthritis, Splenomegaly OMIM:210250
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia, Joint laxity OMIM:255320
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Pulmonary hypoplasia, Joint hyperflexibility ORPHA:2655
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Myocarditis, Pericarditis, Episcleritis, Fasciitis, Arthritis, Osteomyelitis, Keratitis, Uveitis,... ORPHA:801
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Pneumothorax, Knee osteoarthritis, Craniosynostosis, Intervertebral disc dege... OMIM:613795
Decreased liver function, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Osteopenia ORPHA:79321
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Diffuse Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Hunter-Macdonald Syndrome
Premature osteoarthritis, Cubitus valgus, Joint contracture of the hand, Camptodactyly, Delayed c... OMIM:611962
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Skin rash, Recurrent respiratory infections, Os... ORPHA:100026
Myocarditis, Splenic abscess, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Cholesta... ORPHA:810
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Pediatric Systemic Lupus Erythematosus
Myositis, Discoid lupus rash, Nephritis, Arthritis, Malar rash, Skin rash, Pleural effusion ORPHA:93552
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Craniosynostosis, Pancreatic fibrosis, Pulmonary hypoplasia, Poly... OMIM:200995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:236500
Hereditary Spherocytosis
Hepatomegaly, Gout, Cholelithiasis, Splenomegaly, Maculopapular exanthema, Jaundice ORPHA:822
Severe Hemophilia A
Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo... ORPHA:169802
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Joint dislocation, Wormian bones, Abnormality of the wrist, Hip dislo... ORPHA:285
Behcet Syndrome
Epididymitis, Arthritis, Iridocyclitis, Iritis, Erythema nodosum OMIM:109650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Multiple prenatal fractures, Osteopenia, Decreased skull ossification, Fractured r... OMIM:616897
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, Multiple joint contractur... ORPHA:994
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Osteolytic defects of the distal phalanges of the hand, Reduced... ORPHA:740
Renal Tubular Dysgenesis
Widely patent fontanelles and sutures, Pulmonary hypoplasia OMIM:267430
Riddle Syndrome
Pneumonia, Chronic sinusitis, Arthritis, Otitis media, Recurrent pneumonia, Abnormal pulmonary in... ORPHA:420741
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Inflammation of the large intestine, Bronchiectasis, Arthritis, Elevated bronchoalv... OMIM:181000
Lymphatic Filariasis
Ankle swelling, Lymphadenitis, Knee osteoarthritis, Epididymitis, Abnormal lung morphology, Orchi... ORPHA:2035
Classical Ehlers-Danlos Syndrome
Generalized joint laxity, Shoulder dislocation, Dislocated radial head, Osteopenia, Joint swellin... ORPHA:287
Myocarditis, Stiff neck, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis,... ORPHA:533
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Cholestatic liver disease ORPHA:92050
Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash ORPHA:1855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Eczema, Panniculitis, Recurrent otitis media, Arthritis, Splenomegaly, Hepatospleno... OMIM:615688
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arth... ORPHA:228123
Giant Cell Arteritis
Pericarditis, Arthritis, Abnormal pleura morphology, Hepatic failure, Joint stiffness, Recurrent ... ORPHA:397
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Simple Cryoglobulinemia
Pericarditis, Nephritis, Arthritis, Abnormal lung morphology, Membranoproliferative glomeruloneph... ORPHA:91139
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Kawasaki Disease
Myocarditis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Jaundice, Abnormal pulmonary intersti... ORPHA:2331
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Ankle s... ORPHA:3260
Kniest Dysplasia
Laryngotracheomalacia, Abnormal joint morphology, Delayed epiphyseal ossification, Fused cervical... ORPHA:485
Greenberg Dysplasia
Epiphyseal stippling, Multiple prenatal fractures, Patchy variation in bone mineral density, Hepa... OMIM:215140
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... ORPHA:477
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple prenatal fractures, Flexion co... ORPHA:171430
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Hepatic fibrosis, Pancreatic cysts, Bile duct pr... OMIM:208500
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Portal hypertension, Cholangiocarcinoma, ... ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Pulmonary hypoplasia, Hepatic periportal necrosis, Jaundice OMIM:231680
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Rheumatoid arthritis, Pleural effusion, Iritis, Jaundice OMIM:108050
Infectious encephalitis, Synovitis, Arthritis, Ankle joint effusion, Joint swelling, Osteolysis, ... ORPHA:324625
Osteoarthritis, Acne, Joint swelling ORPHA:963
Systemic Sclerosis
Myocarditis, Pericarditis, Arthritis, Osteomyelitis, Joint swelling, Recurrent skin infections, A... ORPHA:90291
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Glycogen Storage Disease Ia
Hepatomegaly, Hepatocellular carcinoma, Osteoporosis, Gout, Pancreatitis, Elevated hepatic transa... OMIM:232200
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Platyspondylic Dysplasia, Torrance Type
Genu varum, Abnormality of the carpal bones, Pulmonary hypoplasia ORPHA:85166
Primary Pulmonary Hypoplasia
Pneumothorax, Patellar hypoplasia, Recurrent respiratory infections, Pulmonary hypoplasia, Abnorm... ORPHA:2257
Absent in utero ossification of vertebral bodies, Pulmonary hypoplasia, Absent in utero rib ossif... OMIM:608022
Glycogen Storage Disease Ib
Hepatomegaly, Hepatocellular carcinoma, Osteoporosis, Gout, Pancreatitis, Elevated hepatic transa... OMIM:232220
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Osteoarthritis, Joint swelling ORPHA:314769
Multiple Osteochondromas
Abnormality of the carpal bones, Abnormality of the knee, Femoroacetabular impingement, Pneumotho... ORPHA:321
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary hypoplasia, Flexion contracture, Splenomegaly OMIM:608149
Hepatic steatosis, Hepatomegaly, Gout, Acute pancreatitis ORPHA:412
Hyper-Igd Syndrome
Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly, Serositis, Hepatosplenomegaly, ... OMIM:260920
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pulmonary artery atresia OMIM:618316
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227990
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Pulmonary arterial medial hypertrophy, Osteoporosis, Knee flexion con... OMIM:601559
Localized Scleroderma
Sclerosis of finger phalanx, Fasciitis, Esophagitis, Arthritis, Uveitis, Flexion contracture, Has... ORPHA:90289
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... OMIM:265000
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, Joint disloca... ORPHA:1190
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia, Flat acetabular roof, Hepatic fibrosis OMIM:614091
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Abnormal cartilage morphology ORPHA:2347
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Glomerulonephritis, Hepatocellular carcinoma, Hepatitis, Panniculitis, Arthritis, S... ORPHA:3261
Marden-Walker Syndrome
Radioulnar synostosis, Joint contracture of the hand, Camptodactyly, Pulmonary hypoplasia, Congen... OMIM:248700
Juvenile Dermatomyositis
Pericarditis, Myositis, Arthritis, Skin rash, Limitation of joint mobility, Pulmonary fibrosis ORPHA:93672
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Pulmonary hypoplasia OMIM:602088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Inflammation of the large intestine, Hepatocellular carcinoma, Increased hepatic gl... ORPHA:79259
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227982
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia, Acetabular spurs OMIM:615503
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
X-Linked Hypophosphatemia
Genu varum, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, Craniosynostosis, Ar... ORPHA:89936
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Arthritis, Increased inf... ORPHA:48435
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchiectasis, Hepatitis, Recurrent otitis media, Arthritis, Osteomyelitis, Gastritis... OMIM:619381
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, Recurrent aspiration pneumonia, Chronic oral candidiasis, Arthritis, Ost... ORPHA:221139
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hepatosplenomegaly, Hepatic failu... OMIM:608013
Mosaic Trisomy 1
Hepatic agenesis, Camptodactyly of finger, Knee joint hypermobility, Pulmonary hypoplasia, Pulmon... ORPHA:1692
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Cubitus valgus, Intrahepatic biliary dysgenesis, Widely paten... OMIM:214100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Microcephaly-Micromelia Syndrome
Craniosynostosis, Pulmonary hypoplasia, Humeroradial synostosis OMIM:251230
Genitopatellar Syndrome
Patellar aplasia, Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, ... ORPHA:85201
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple prenatal fractures, Flexion co... OMIM:616866
Blau Syndrome
Abnormal inflammatory response, Polyarticular arthritis, Pericarditis, Synovitis, Posterior uveit... ORPHA:90340
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Contractures of the large joints, Abnormality of the ankles, Respiratory in... ORPHA:96179
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Recurren... ORPHA:906
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Caudal Regression Sequence
Joint stiffness, Abnormal vertebral segmentation and fusion, Pulmonary hypoplasia ORPHA:3027
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Pneumothorax, Joint dislocation, Congenital hip dislocation, Periodont... ORPHA:286
Glycogen Storage Disease Ic
Hepatomegaly, Hepatocellular carcinoma, Gout, Hepatoblastoma, Chronic pancreatitis OMIM:232240
Myocarditis, Chondrocalcinosis, Pericarditis, Lung adenocarcinoma, Arthritis, Abnormal pulmonary ... ORPHA:221
Hepatomegaly, Inflammation of the large intestine, Abnormality of the elbow, Endocarditis, Lympha... ORPHA:707
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Pulmonary hypoplasia, Flexion contracture, Pterygium ORPHA:1865
Lethal Congenital Contracture Syndrome 10
Stiff neck, Pulmonary hypoplasia OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Pterygium, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Antecub... ORPHA:2990
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Emphysema, Pulmonary artery stenosis, Tracheomalacia, Joint laxity OMIM:613177
Neu-Laxova Syndrome
Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteopenia, Flexion contracture, Ptery... ORPHA:2671
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Multiple joint dislocation, Large joint dislocations, Osteoporosis, Cranios... ORPHA:536467
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pneumonia, Acute colitis, Pleuritis, Pancreatitis, Septic arthritis, Pleural empyema... ORPHA:544482
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Agenesis of pulmonary vessels, Pulmonary hypoplas... OMIM:601186
Acro-Renal-Mandibular Syndrome
Hip dislocation, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Meier-Gorlin Syndrome 7
Aplasia/Hypoplasia of the patella, Craniosynostosis, Sagittal craniosynostosis, Pulmonary hypopla... OMIM:617063
Scimitar Syndrome
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Anomalous pulmonary venous return, Pulm... ORPHA:185
Spondylodysplastic Ehlers-Danlos Syndrome
Radioulnar synostosis, Abnormality of the elbow, Increased susceptibility to fractures, Generaliz... ORPHA:536471
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Distal Tetrasomy 15Q
Craniosynostosis, Pulmonary hypoplasia, Flexion contracture, Camptodactyly ORPHA:314588
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Pulmonary hypoplasia OMIM:611812
Chromosome 13Q33-Q34 Deletion Syndrome
Prominent metopic ridge, Pulmonary hypoplasia, Camptodactyly OMIM:619148
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Myositis, Elevated hepatic transaminase, Panniculitis, Arthritis, He... ORPHA:51
Pentalogy Of Cantrell
Pulmonary hypoplasia, Polysplenia, Absent gallbladder ORPHA:1335
Chronic Graft Versus Host Disease
Keratoconjunctivitis sicca, Bronchiolitis obliterans, Urinary bladder inflammation, Bronchiectasi... ORPHA:99921
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Arthritis, Genu valgum, Periodontitis, Hip dislocation, Recurren... ORPHA:534
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular inflammatory infiltr... ORPHA:83617
Hepatomegaly, Abnormal lung lobation, Abnormal bone ossification, Hepatic cysts, Prominent metopi... ORPHA:79328
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Congenital hip dislocation, Flexion contracture, Epiphyseal stippling OMIM:308050
Atelosteogenesis Type Ii
Tracheobronchomalacia, Genu valgum, Camptodactyly, Elbow dislocation, Pulmonary hypoplasia, Elbow... ORPHA:56304
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Cholelithia... ORPHA:567
Congenital Tracheomalacia
Tracheobronchomalacia, Pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pneumothorax, Recurrent u... ORPHA:95430
Mucopolysaccharidosis Type 2, Severe Form
Arthritis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Flexio... ORPHA:217085
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Gout, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Bi... OMIM:137920
Mucopolysaccharidosis Type 2, Attenuated Form
Arthritis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Flexio... ORPHA:217093
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Distal arthrogryposis, Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Lethal Congenital Contracture Syndrome 9
Ankylosis, Pulmonary hypoplasia, Congenital contracture OMIM:616503
Tetrasomy 9P
Pericarditis, Myositis, Joint dislocation, Arthritis, Absent gallbladder, Biliary atresia, Pulmon... ORPHA:3310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Pulmonary hypoplasia, Flat acetabular roof OMIM:616300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia, Pyelonephritis, Peritonitis OMIM:619351
Raine Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Increased bone mineral density OMIM:259775
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Pancreatitis, Uveitis, Maculopapular exanthema, Skin rash, Elevated hepa... ORPHA:99826
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis, Osteolysis ORPHA:2396
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Hepatomegaly, Chronic otitis media, Arthritis, Splenomegaly, Joint stiffness, Recurrent respirato... ORPHA:93
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Osteolytic defects of the phalanges of the hand, Arthritis, Foot acroosteolysis OMIM:161700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Vertebral fusion, Block vertebrae OMIM:271520
Fabry Disease
Emphysema, Arthritis, Reduced bone mineral density ORPHA:324
Cardiac-Urogenital Syndrome
Scimitar anomaly, Accessory spleen, Hepatopulmonary fusion, Pulmonary hypoplasia OMIM:618280
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Accessory spleen, Partial anomalous pulmonar... OMIM:608978
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Pulmonary hypoplasia, Periportal fibrosis, Splenomegaly OMIM:269860
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Neuropathic arthropathy, Septic arthritis, Osteomyelit... ORPHA:642
Orofaciodigital Syndrome Type 4
Genu varum, Abnormal joint morphology, Joint dislocation, Absent crus of helix, Camptodactyly of ... ORPHA:2753
Smith-Lemli-Opitz Syndrome
Eczema, Epiphyseal stippling, Abnormal lung lobation, Recurrent otitis media, Cholestatic liver d... OMIM:270400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia, Hepatic fibrosis OMIM:263520
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Aortopulmonary window, Anomalous origin of left pulmonary artery from ascending aorta, Anomalous ... ORPHA:99050
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Pulmonary hypoplasia, Absent gallbladder OMIM:617925
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Pulmonary hypoplasia, Increased bone mineral density ORPHA:50945
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Splenomegaly, Access... OMIM:249000
Vacterl With Hydrocephalus
Hip dislocation, Pulmonary hypoplasia ORPHA:3412
Hepatomegaly, Osteoporosis, Flexion contracture, Camptodactyly, Elevated hepatic transaminase, Pu... ORPHA:86309
Gaisböck Syndrome
Gout, Cholecystitis ORPHA:90041
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Hepatomegaly, Epiphyseal stippling, Flexion contract... ORPHA:96334
Pagod Syndrome
Abnormality of the spleen, Pulmonary hypoplasia, Pulmonary artery hypoplasia, Abnormality of the ... ORPHA:991
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Acrorenal-Mandibular Syndrome
Hip dislocation, Pulmonary hypoplasia, Elbow flexion contracture OMIM:200980
Schinzel-Giedion Syndrome
Annular pancreas, Wormian bones, Stiff elbow, Hepatoblastoma, Recurrent pneumonia, Camptodactyly,... ORPHA:798
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Elbow dislocation, Pulmonary hypoplasia ORPHA:1112
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia, Congenital hip dislocation OMIM:236700
Opitz Gbbb Syndrome, Type Ii
Craniosynostosis, Pulmonary hypoplasia, Absent gallbladder OMIM:145410
Absence Of The Pulmonary Artery
Bronchiectasis, Pulmonary edema, Recurrent pneumonia, Recurrent respiratory infections, Pulmonary... ORPHA:980
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Gitelman Syndrome
Chondrocalcinosis, Tubulointerstitial nephritis, Neoplasm of the pancreas, Gout, Hashimoto thyroi... ORPHA:358
Esophageal Atresia
Laryngotracheomalacia, Esophagitis, Recurrent respiratory infections, Pulmonary hypoplasia, Bronc... ORPHA:1199
Fryns Syndrome
Ectopic pancreatic tissue, Joint contracture of the hand, Camptodactyly, Pulmonary hypoplasia, Po... OMIM:229850
Tarp Syndrome
Widely patent fontanelles and sutures, Pulmonary hypoplasia ORPHA:2886
Smith-Lemli-Opitz Syndrome
Hip dislocation, Pulmonary hypoplasia, Abnormality of the gallbladder, Abnormal lung lobation ORPHA:818
Renal Dysplasia-Limb Defects Syndrome
Pneumothorax, Pulmonary hypoplasia OMIM:266910
Genitopatellar Syndrome
Patellar aplasia, Hip contracture, Congenital hip dislocation, Knee flexion contracture, Patellar... OMIM:606170
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Craniofacial Microsomia
Pulmonary hypoplasia, Block vertebrae OMIM:164210
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Asplenia, Peripheral pulmonary vessel aplasia OMIM:273395
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Truncus Arteriosus
Abnormal lung lobation, Pulmonary artery hypoplasia, Pulmonary edema, Pulmonary artery stenosis, ... ORPHA:3384
Hepatomegaly, Arthritis, Splenomegaly, Elevated circulating aspartate aminotransferase concentrat... ORPHA:2388
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia, Elbow ankylosis, Arthrogryposis multiplex congenita, Camptodactyly of finger OMIM:208150
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Keratoconjunctivitis, Arthritis ORPHA:2363
Distal Monosomy 15Q
Hip dislocation, Generalized joint laxity, Pulmonary hypoplasia, Genu valgum ORPHA:1596
Mosaic Trisomy 16
Pulmonary hypoplasia, Abnormal lung morphology ORPHA:1708
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Osteopenia, Widely patent fontanelles and sutures, Decreased ... ORPHA:1662
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Craniosynostosis, Coronal craniosynostosis, Pulmona... OMIM:612289
Restrictive Dermopathy 1
Decreased calvarial ossification, Pulmonary hypoplasia, Ankylosis, Flexion contracture OMIM:275210
Wiedemann-Rautenstrauch Syndrome
Synovitis, Recurrent otitis media, Osteopenia, Joint hypermobility, Widely patent fontanelles and... ORPHA:3455
Noonan Syndrome 1
Cubitus valgus, Synovitis, Chylothorax OMIM:163950
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Acetabular erosions, Periarti... OMIM:601492
Neu-Laxova Syndrome 1
Pulmonary hypoplasia, Camptodactyly, Joint contracture of the hand, Pterygium OMIM:256520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Absent or minimally ossified vert... ORPHA:93271
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Mixed total anomalous pulmonary venous connection, Cardiac total anomalous pulmonar... ORPHA:99125
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia, Humeroradial synostosis ORPHA:3404
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Fraser Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2052
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Congenital hip dislocation, Hip dislocation, Flexion contractur... OMIM:601803
Microphthalmia, Syndromic 1
Recurrent otitis media, Pulmonary hypoplasia, Joint contracture of the hand, Camptodactyly OMIM:309800


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.

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MGI Allele Allele Type Produced
Hyal1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hyal1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hyal1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Hyal1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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