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Gene: Tram2 MGI:1924817

Gene Summary

Name:

translocating chain-associating membrane protein 2

Synonyms:

C330003D03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral density	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.37×10^-16
decreased bone mineral content	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.32×10^-09
decreased circulating serum albumin level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.96×10^-05
abnormal ulna morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.53×10^-06
abnormal spine curvature	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.08×10^-05
abnormal joint morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.46×10^-16
abnormal scapula morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.25×10^-15
abnormal radius morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.56×10^-08
abnormal vertebral arch morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.10×10^-07
increased circulating amylase level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.63×10^-05
increased circulating alkaline phosphatase level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.40×10^-06
kyphosis	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.92×10^-06
abnormal humerus morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.58×10^-06
decreased circulating total protein level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.46×10^-05
increased grip strength	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.42×10^-06
absent pinna reflex	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.99×10^-18

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Legacy Phenotype Associated Images

Tram2^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Tram2^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 172 images

Tram2^{tm1a(KOMP)Wtsi}
TS20 chorioallantoic placenta, HET, Female, WTSI

Human diseases caused by Tram2 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 Tram2 (0 diseases)
Human diseases predicted to be associated with Tram2 (754 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tram2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu...	ORPHA:85198
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta...	ORPHA:3104
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones...	OMIM:271530
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scapular winging, Distal joint hype...	OMIM:616471
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa...	OMIM:277950
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif...	ORPHA:1263
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin...	ORPHA:85188
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h...	ORPHA:40
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Mesomelic Dysplasia, Nievergelt Type	Mesomelia, Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Fin...	ORPHA:2633
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho...	ORPHA:1837
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Immunodeficiency 43	Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoplasia of t...	OMIM:241600
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Reduced bone mineral density, Bowi...	ORPHA:2501
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Elevated circulat...	OMIM:600175
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver...	OMIM:609223
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar creases	ORPHA:1116
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Radioulnar synostosis, Clinodactyly of the 5th finger, Scoliosis, Abnormality ...	ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Brachydactyly, Shortening of all distal...	ORPHA:79320
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Ullrich Congenital Muscular Dystrophy	Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Increased laxity...	ORPHA:75840
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Joint hypermobility, Arachnodactyly, Hypertriglyceridemia, Scoliosis	OMIM:619013
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha...	OMIM:615923
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr...	ORPHA:93307
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Elbow contracture, Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscol...	OMIM:620386
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Tremor, Clinodactyly of the 5th finger, Flexion contracture, Hyp...	OMIM:608093
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Flexion contractur...	OMIM:300718
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu...	ORPHA:2635
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac...	ORPHA:3266
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee flexion contracture, ...	OMIM:313420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Ta...	OMIM:615290
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility, Scoliosis, Kyphosis	ORPHA:79327
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Brachydactyly, Reduced bone mineral density, Kyphosis, Delayed ossification o...	OMIM:618392
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ...	OMIM:112350
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Polyarticular arthrit...	ORPHA:85435
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia...	OMIM:208920
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Clubbing, Periostosis	OMIM:614441
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture, Ankle clonus	OMIM:611225
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture...	OMIM:259450
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ...	ORPHA:429
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia, Clubbing, Clubbing of fingers	OMIM:226300
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Eleva...	OMIM:619040
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Arthrogryposis multiplex congenita, Abnormal circulating creatine kinase concentration, Kyphoscol...	OMIM:618484
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia	ORPHA:398063
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture...	ORPHA:2771
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre...	OMIM:184252
Acrorenal Syndrome	Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna	ORPHA:971
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Abnormal blood phosphate concentration, Bo...	OMIM:619795
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,...	ORPHA:628
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Talipes equinovarus, Short foot, Scoliosis, Hip dislocation	OMIM:300434
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Joint h...	OMIM:614727
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Myopathic Ehlers-Danlos Syndrome	Joint contracture of the hand, Talipes equinovarus, Patellar subluxation, Ankle flexion contractu...	ORPHA:536516
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat...	OMIM:251450
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral neck, Knee dis...	OMIM:618395
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve...	OMIM:620639
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short neck, Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Abno...	ORPHA:3098
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Kyphosis, Hypocholesterolemia, Short neck, Hip dislocation	OMIM:608776
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Joint stiffness, Genu valgum, Claw hand deformity, Flared il...	OMIM:252605
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo...	ORPHA:247585
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Kyphosis, Spinal ri...	OMIM:617404
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Hypophosphatemia, Abnormal mor...	ORPHA:249
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Talipes equinovarus, Kyphosis	ORPHA:85288
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Clinodactyly of the 5th finger	OMIM:618347
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes...	OMIM:609128
Atelosteogenesis, Type Iii	Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bow...	OMIM:108721
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Immunodeficiency 27A	Hypoalbuminemia, Salmonella osteomyelitis, Hypoplasia of the femoral head	OMIM:209950
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact...	OMIM:618658
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Dystonia, Scoliosis, Hip dislocation	OMIM:616756
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Short neck, Hypoproteinemia, Hypocalcemia, Postaxial hand polydactyly	OMIM:235255
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Talipes equinovarus, Short neck, ...	OMIM:608104
Desbuquois Syndrome	Genu recurvatum, Small hand, Elbow dislocation, Camptodactyly of finger, Abnormal metaphysis morp...	ORPHA:1425
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:1354
Hall-Riggs Syndrome	Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, Kyphosis, Irregular...	OMIM:234250
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Hypercholest...	OMIM:616730
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short phalanx of finger, Short metacarpal, Short...	OMIM:180870
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r...	ORPHA:94068
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration...	ORPHA:64753
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Mycetoma	Abnormal form of the vertebral bodies, Abnormal forearm bone morphology, Painless fractures due t...	ORPHA:2583
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Scoliosis, Kyphosis, Upper limb amyotrophy	OMIM:617087
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Osebold-Remondini Syndrome	Mesomelia, Abnormality of the vertebral column, Short toe, Carpal synostosis, Short tibia, Type A...	OMIM:112910
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Ulnar deviation of the...	OMIM:253000
Central Core Disease	Congenital hip dislocation, Abnormal circulating creatine kinase concentration, Multiple joint co...	ORPHA:597
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic...	OMIM:620076
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Hypoproteinemia, Hypocalcemia, Postaxial hand polydactyly	ORPHA:1655
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Scoliosis, Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Ullrich Congenital Muscular Dystrophy 1A	Hip dislocation, Kyphosis, Wrist hypermobility, Increased laxity of fingers, Increased laxity of ...	OMIM:254090
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Kyphoscoliosis, Joint hypermobility...	OMIM:616507
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o...	ORPHA:93316
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor...	OMIM:619638
Marinesco-Sjogren Syndrome	Kyphosis, Elevated circulating creatine kinase concentration, Cubitus valgus, Short metatarsal, S...	OMIM:248800
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Arthrogryposis multiplex congenita, Single transverse palmar crease, Talipes equi...	OMIM:611890
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh...	OMIM:255800
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h...	OMIM:602471
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Short humerus, Thoraci...	OMIM:616716
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Cervical spinal canal stenosis, Shor...	ORPHA:15
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurrent fractures,...	OMIM:610915
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Elevated circulating creatine kinase c...	OMIM:300280
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Bilateral single transverse palmar creases, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1548
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Achondroplasia	Rhizomelia, Radial bowing, Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Femoral b...	OMIM:100800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Small hand, Hypoplastic...	OMIM:235510
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ...	ORPHA:1858
Camurati-Engelmann Disease	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Limitation of joint mob...	ORPHA:1328
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Aplasia/hypoplasi...	ORPHA:3320
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ...	OMIM:143095
Dengue Fever	Hypoproteinemia	ORPHA:99828
Myasthenic Syndrome, Congenital, 25, Presynaptic	Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow...	OMIM:201250
Masa Syndrome	Talipes equinovarus, Adducted thumb, Kyphosis, Hyperlordosis	OMIM:303350
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi...	OMIM:151210
Intellectual Disability-Developmental Delay-Contractures Syndrome	Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo...	ORPHA:3454
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Anterior beaking of lumbar vertebrae, D...	OMIM:230650
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis, Large hands, Tapered finger	ORPHA:276630
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Hyperlordosis,...	OMIM:300831
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Fetal Akinesia Deformation Sequence 4	Short neck, Camptodactyly, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis	OMIM:618393
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Mucopolysaccharidosis Type 4	Platyspondyly, Joint dislocation, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valg...	ORPHA:582
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis	ORPHA:505652
Osteogenesis Imperfecta, Type Iii	Slender long bone, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave vert...	OMIM:259420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ...	OMIM:612350
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati...	OMIM:616050
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intention tremor, Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Scol...	ORPHA:48431
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Talipes equinova...	ORPHA:56305
Alg12-Cdg	Hypoalbuminemia, Sandal gap, Hypocholesterolemia, Overlapping fingers, Hyponatremia, Talipes equi...	ORPHA:79324
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral bodie...	ORPHA:137834
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elbow flexion contracture, Proximal muscle weakness in upper limbs, Kyphosis, Elevated circulatin...	OMIM:618138
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Advanced tarsal ossification, Narrow vertebral interpedicula...	OMIM:269250
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Acetabular dysplasia, Flared iliac wing, Short neck, Metaphyseal widening, Flexi...	OMIM:617303
Distal Limb Deficiencies-Micrognathia Syndrome	Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wris...	ORPHA:1307
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra...	OMIM:616267
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal upper limb amyotrophy, Scoliosis, Kyphosis, Tremor	ORPHA:101075
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme...	ORPHA:85166
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Ulnar deviation of the...	OMIM:253010
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia	OMIM:620007
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost...	OMIM:184095
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnorma...	ORPHA:1788
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Clinodactyly, Single transverse palmar crease, Short neck, Fl...	ORPHA:178148
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteom...	ORPHA:324964
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, ...	ORPHA:2491
Clark-Baraitser syndrome	Genu recurvatum, Genu valgum, Joint hypermobility, Broad palm, Scoliosis, Kyphosis, Short palm, T...	OMIM:300602
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hand clenching, Kyphosis, Arthrogryposis multiplex congenita, Overlap...	OMIM:618291
Lopes-Maciel-Rodan Syndrome	Small hand, Tremor, Ankle clonus, Dystonia, Short foot, Scoliosis, Kyphosis	OMIM:617435
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Typical Nemaline Myopathy	Hip dislocation, Arthrogryposis multiplex congenita, Genu valgum, Elevated circulating creatine k...	ORPHA:171436
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pteryg...	OMIM:211350
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba...	OMIM:169550
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Irr...	OMIM:252600
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Ulnar bowing, ...	OMIM:617866
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Short neck, Abnormality of the hu...	ORPHA:2911
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Arthritis,...	ORPHA:61
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Increased bone mineral density, Recurrent fractures, Hyperuricemia...	OMIM:239000
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Increased vertebra...	ORPHA:2616
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim...	OMIM:183900
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Talipes equinovarus, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:151800
Richieri Costa-Da Silva Syndrome	Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K...	ORPHA:3101
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Intention tremor, Tremor, Flexion contracture, ...	OMIM:212065
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Reduced bone miner...	OMIM:166220
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentr...	OMIM:606612
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Multiple Myeloma	Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Hyperproteinemia,...	ORPHA:29073
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm	ORPHA:177910
Autosomal Recessive Spastic Paraplegia Type 53	Limb dystonia, Kyphosis, Upper limb hypertonia, Joint hypermobility	ORPHA:319199
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia	ORPHA:1667
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Abnormality of the joint spac...	ORPHA:93333
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Palmoplantar keratoderma, Increased serum bile acid concentration, Decreased cir...	OMIM:242150
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Atelosteogenesis, Type I	Elbow dislocation, Radial bowing, Fibular aplasia, Talipes equinovarus, Short neck, Aplasia/Hypop...	OMIM:108720
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Tracheomalacia, Lumbar hyperlordosis...	OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Wide distal femoral metaphysis, Increased bone mineral density, Femoral bowing, Wi...	OMIM:614856
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Osteoporosis, Dystonia, Scoliosis	OMIM:619487
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Talipes equinovarus, Hall...	OMIM:617821
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Persistent open anterior fontanelle, Massively thicken...	ORPHA:1798
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Kyphoscol...	ORPHA:65759
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Arthrogryposis multiplex congenita, Camptodactyly of finger, Ulnar de...	OMIM:114300
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Leg dystonia, Kyphoscoliosis, Femo...	OMIM:607371
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Shallow acetabular fossae, Proximal radio-ulnar synostosis, Radial bowing, Ulnar bowing, Limited ...	OMIM:605432
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir...	ORPHA:158061
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis, Tremor	ORPHA:101078
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Decreased palmar cr...	OMIM:108145
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnor...	ORPHA:2655
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Generalized dystonia, Femoral retroversion, Scoliosis, Kyphosis	ORPHA:79107
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Recurrent fractures, Abnormal metaphysis morphology, Joint...	ORPHA:2050
Contractural Arachnodactyly, Congenital	Hip contracture, Arachnodactyly, Talipes equinovarus, Short neck, Bowing of the long bones, Patel...	OMIM:121050
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Poorly ossified...	OMIM:619135
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Joint stiffnes...	OMIM:108300
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Flexion contracture, ...	OMIM:609162
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Increased LDL chole...	ORPHA:98855
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Hypoplastic inferior ilia, Abnormal...	ORPHA:1452
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho...	OMIM:210720
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Dislocation of the femoral head, Delayed closure of the anterior font...	OMIM:619797
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Irregular femoral epiphysis, Genu valgum, Vertebral wedging, Kyphoscoliosis	OMIM:255710
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli...	ORPHA:14
Nievergelt Syndrome	Genu valgum, Radioulnar synostosis, Talipes equinovarus, Radial head subluxation, Metatarsus addu...	OMIM:163400
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hemivertebrae, Hypoplasia of the u...	OMIM:212780
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Hypop...	OMIM:164745
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Micromelia, Flared metaphysis,...	OMIM:187601
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, Hyperlordosis, Metatarsus...	OMIM:181405
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Bilateral single transverse...	ORPHA:3191
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Scoliosis, Elevated circulating creatine kinase concentration	OMIM:619055
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Baralle-Macken Syndrome	Dystonia, Kyphosis, Tapered finger	OMIM:619255
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Joint hypermobility	ORPHA:1875
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi...	ORPHA:2916
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Increased LDL chole...	ORPHA:98863
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o...	OMIM:618476
Campomelic Dysplasia	Small abnormally formed scapulae, Kyphosis, Tracheomalacia, Femoral bowing, Recurrent fractures, ...	ORPHA:140
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Tremor, Hyponatremia, Hypertriglyceridemia, Hypopro...	ORPHA:167
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal form of the vertebral bodies, Recurre...	ORPHA:2769
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
Mitochondrial Complex I Deficiency, Nuclear Type 15	Dystonia, Flexion contracture, Kyphosis	OMIM:618237
Spastic Paraplegia 53, Autosomal Recessive	Dystonia, Kyphosis, Upper limb hypertonia, Joint hypermobility	OMIM:614898
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Hypoplasia of the radius, Aplasia...	OMIM:602418
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Arachnodactyly, Camptodactyly, Hip dislocation	OMIM:617729
Acro-Renal-Mandibular Syndrome	Hip dislocation, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to abse...	ORPHA:958
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ...	ORPHA:1860
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Talipes equinovar...	OMIM:251300
Generalized Pustular Psoriasis	Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c...	ORPHA:247353
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno...	OMIM:615349
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Increased LDL chole...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Increased LDL chole...	ORPHA:98853
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Tremor, Short neck, Short foot, Scoliosis, Kyphosis, Shor...	ORPHA:238750
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Joint ...	ORPHA:352490
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1883
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu...	ORPHA:420794
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Clinodactyly, Narrow palm, Br...	OMIM:615547
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Increased sus...	OMIM:231070
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral ...	ORPHA:3258
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Fibrochondrogenesis 1	Platyspondyly, Hypoplastic ischia, Joint contracture of the hand, Hypoplastic scapulae, Small han...	OMIM:228520
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Split hand, Scoliosis, Kyphosis	OMIM:618124
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Flexion contracture	ORPHA:367
Mitochondrial Dna Depletion Syndrome 11	Elevated circulating creatine kinase concentration, Kyphosis, Neuropathic spinal arthropathy, Spi...	OMIM:615084
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow...	OMIM:187600
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Osteomyelitis, Hypocalcemia, Elev...	ORPHA:36234
Xfe Progeroid Syndrome	Hypoalbuminemia, Scoliosis	OMIM:610965
Juvenile Polyposis Syndrome	Hypoalbuminemia, Clubbing, Hypokalemia	OMIM:174900
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Lumbar hyperlordosis, Joint stiffness, Lumbar kyphosis, Short neck, Deep palmar ...	ORPHA:505248
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Bilateral single transverse palmar creases, Prominent metopic ridge	ORPHA:85317
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Metatarsus valgus, ...	ORPHA:3082
Wieacker-Wolff Syndrome	Hip dislocation, Arthrogryposis multiplex congenita, Congenital foot contractures, Talipes equino...	OMIM:314580
Cole-Carpenter Syndrome 2	Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Osteopenia, Recurrent fract...	OMIM:616294
Congenital Myopathy 22A, Classic	Kyphosis, Knee contracture, Hip contracture, Thoracic scoliosis, Achilles tendon contracture, Sca...	OMIM:620351
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Short n...	OMIM:271640
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir...	OMIM:617093
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Marshall Syndrome	Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ...	OMIM:154780
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Hyperlordosis, Torticol...	OMIM:128100
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic sacrum, Abnormal femoral metaphysi...	OMIM:200600
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Osteomalacia, Hyperbilirubinemia, ...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Carpal bone aplasia, Fibular ap...	OMIM:200500
Sialidosis Type 2	Osteoporosis, Flexion contracture, Kyphosis, Tremor	ORPHA:87876
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Arachnodactyl...	OMIM:600920
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Metatarsus valgus, Joint hypermobility, Hypercholesterolemia, Genu varum, Scoliosis, ...	ORPHA:2479
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Intellectual Developmental Disorder, Autosomal Dominant 26	Decreased palmar creases, Clinodactyly of the 5th finger, Scoliosis, Arthrogryposis multiplex con...	OMIM:615834
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Kyphosis, Finger syndactyly, Short middle phalanx of finger, Joint st...	ORPHA:1005
Classical-Like Ehlers-Danlos Syndrome Type 2	Elbow dislocation, Arachnodactyly, Hip dislocation, Osteopenia, Radioulnar dislocation, Joint dis...	ORPHA:536532
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Recurrent fractures, Bowed humerus, Wrist flexion con...	OMIM:609465
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Pycnodysostosis	Small hand, Delayed cranial suture closure, Hypoplastic iliac wing, Short foot, Coronal craniosyn...	ORPHA:763
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Reduced bone mineral density, Hypocalcemia, Joint hypermobi...	OMIM:613658
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Scoliosis, Kyphosis	ORPHA:1545
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Occipital Horn Syndrome	Platyspondyly, Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Short h...	OMIM:304150
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal hip bone morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan...	OMIM:308050
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Dystonia, Hip dislocation, Scoliosis, Kyphosis	ORPHA:464282
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Myopathy, Centronuclear, 2	Talipes equinovarus, Hyperlordosis, Scapular winging, Flexion contracture, Scoliosis, Kyphosis	OMIM:255200
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Joint stiffness, Hemiverteb...	ORPHA:2062
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Genu valgum, Short neck, Abnormal metaphysis morphology, K...	ORPHA:583
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abno...	ORPHA:93274
Becker Nevus Syndrome	Micromelia, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Upper limb asym...	ORPHA:64755
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Kyphosis, Neuropathic spinal arthropathy, Spi...	ORPHA:352447
Sandhoff Disease	Kyphosis	ORPHA:796
Atypical Rett Syndrome	Small hand, Pill-rolling tremor, Tremor, Dystonia, Short foot, Scoliosis, Kyphosis	ORPHA:3095
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Arthrogryposis multiplex congenita, Finger syndactyly, Sandal gap, Clinodactyly...	ORPHA:254346
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Midclavicular hypoplasia, Broad thumb, Broad phalanx of the toes, Clubbing of fi...	ORPHA:79076
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, T...	ORPHA:536467
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor	OMIM:254900
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Tremor, Joint hypermobility, Brachydactyly, Short foot, Kyphosis	OMIM:300354
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo...	OMIM:166250
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity	ORPHA:1765
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the finger joints	OMIM:609008
X-Linked Intellectual Disability, Cabezas Type

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Gene: Tram2 MGI:1924817

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Human diseases caused by Tram2 mutations