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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
kyphosis	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.92×10^-06
decreased circulating total protein level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.46×10^-05
increased circulating alkaline phosphatase level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.40×10^-06
abnormal humerus morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.58×10^-06
increased grip strength	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.42×10^-06
decreased circulating serum albumin level	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.96×10^-05
absent pinna reflex	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.99×10^-18
abnormal radius morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.56×10^-08
decreased bone mineral density	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.37×10^-16
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 ulna morphology	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.53×10^-06
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
decreased bone mineral content	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.32×10^-09
abnormal spine curvature	Tram2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.08×10^-05

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 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 (749 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 thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr...	ORPHA:1570
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn...	ORPHA:85198
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:3104
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxi...	OMIM:616471
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G...	OMIM:277950
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb...	OMIM:600175
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay...	OMIM:600969
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	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, Abnormality of the elbow, Radioulnar synostosis, Scoliosis, Clinodactyly of th...	ORPHA:3268
Alg6-Cdg	Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Hypoa...	ORPHA:79320
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con...	ORPHA:1159
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short...	ORPHA:75840
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short met...	ORPHA:93307
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia, Scoliosis, Joint hypermobility	OMIM:619013
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Tremor, Flexion contracture, Clinodactyly of the 5th finger, Hyp...	OMIM:608093
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Spinal rigid...	OMIM:620386
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d...	OMIM:249700
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis...	OMIM:252605
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:85435
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis	ORPHA:79327
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Hyperlordo...	OMIM:615290
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla...	OMIM:616583
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,...	OMIM:618392
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Scoliosis, Dystonia,...	OMIM:208920
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Myofibrillar Myopathy 10	Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos...	OMIM:619040
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Abnormal circulating creatine kinase concentration...	OMIM:618484
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Clubbing of fingers, Clubbing, Hypoalbuminemia	OMIM:226300
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of t...	OMIM:184252
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip...	OMIM:619795
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna	ORPHA:971
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Flexion contracture, Knee flexion contracture, Congenital contractur...	ORPHA:536516
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Increased bone mineral density, Camptodactyly of fin...	ORPHA:628
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c...	OMIM:614727
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho...	ORPHA:3098
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal morphology of ulna, Short neck	ORPHA:2233
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation	ORPHA:85288
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Hypoalbuminemia	OMIM:618347
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphos...	OMIM:609128
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Gm1-Gangliosidosis, Type Iii	Dystonia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar verte...	OMIM:230650
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies...	ORPHA:2831
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis, Dystonia	OMIM:616756
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec...	OMIM:108721
Immunodeficiency 27A	Salmonella osteomyelitis, Hypoalbuminemia, Hypoplasia of the femoral head	OMIM:209950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Zimmermann-Laband Syndrome 3	Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan...	OMIM:618658
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Short neck	OMIM:235255
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nephrotic Syndrome, Type 11	Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin...	OMIM:616730
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Coxa valga, Elbow dislocation, Small hand, ...	ORPHA:1425
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinovarus, ...	OMIM:608104
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen...	OMIM:142900
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh...	OMIM:180870
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Upper limb amyotrophy, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:617087
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporos...	ORPHA:2583
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Central Core Disease	Joint laxity, Congenital hip dislocation, Multiple joint contractures, Elevated circulating creat...	ORPHA:597
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, H...	OMIM:254090
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:615895
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Short neck	ORPHA:1655
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Marinesco-Sjogren Syndrome	Short metacarpal, Elevated circulating creatine kinase concentration, Coxa valga, Kyphosis, Flexi...	OMIM:248800
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration...	OMIM:255800
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Talipes...	OMIM:611890
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ...	OMIM:616507
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sh...	OMIM:619638
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Ky...	OMIM:300280
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Fl...	OMIM:602471
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality o...	ORPHA:263463
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:1548
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe...	OMIM:610915
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,...	ORPHA:3409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Proximal...	OMIM:618138
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy...	OMIM:253000
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Flexion c...	OMIM:222765
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Small hand, Short foot, Joint contracture of the hand, Cutaneous finger syndactyly, H...	OMIM:235510
Dengue Fever	Hypoproteinemia	ORPHA:99828
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Coxa vara, Contract...	OMIM:616716
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,...	ORPHA:93316
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Hyperlordo...	ORPHA:1328
Masa Syndrome	Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis	OMIM:303350
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,...	OMIM:300831
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp...	ORPHA:15
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ...	OMIM:100800
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab...	ORPHA:2167
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Large hands, Scoliosis, Tapered finger	ORPHA:276630
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo...	ORPHA:392
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing...	OMIM:612350
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine, In...	ORPHA:48431
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Alg12-Cdg	Hyponatremia, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers...	ORPHA:79324
Atelosteogenesis Type Iii	Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality...	ORPHA:56305
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Clubbing, Flared iliac wing, Hypoalbuminem...	OMIM:617303
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spi...	ORPHA:582
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor...	ORPHA:137834
Cdkl5-Deficiency Disorder	Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis	ORPHA:505652
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas...	ORPHA:1307
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia	OMIM:620007
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis, Dystonia	OMIM:617435
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r...	ORPHA:171436
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor...	OMIM:300602
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Joint hyperflexibility	ORPHA:1875
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal def...	OMIM:253010
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp...	ORPHA:178148
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il...	OMIM:169550
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed...	OMIM:610968
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas...	ORPHA:61
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ...	OMIM:618291
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Intentio...	OMIM:212065
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor...	OMIM:606612
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa...	OMIM:242150
Autosomal Recessive Spastic Paraplegia Type 53	Limb dystonia, Kyphosis, Upper limb hypertonia, Joint hyperflexibility	ORPHA:319199
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand	ORPHA:177910
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Aicardi-Goutieres Syndrome 9	Osteoporosis, Hypoalbuminemia, Scoliosis, Dystonia	OMIM:619487
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca...	OMIM:108720
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Metatarsus adductus, Sl...	OMIM:212720
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Generalized dystonia, Oculogyric crisis, Femoral retroversion, Kyphoscolios...	OMIM:607371
Richieri Costa-Da Silva Syndrome	Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility,...	ORPHA:3101
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo...	ORPHA:1798
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Kyphosis, Scoliosis	ORPHA:101078
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98855
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Torticollis, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysp...	OMIM:181405
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Dystonia, Tremor, ...	OMIM:277900
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Poorly o...	OMIM:619135
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Kyphoscoliosis, Decreased LDL cholesterol co...	ORPHA:14
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Abnormal circulating...	ORPHA:3191
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum	OMIM:255710
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulna...	OMIM:121050
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,...	ORPHA:1452
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthrit...	OMIM:108300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:619055
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98863
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr...	OMIM:108145
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou...	OMIM:212780
Baralle-Macken Syndrome	Kyphosis, Dystonia, Tapered finger	OMIM:619255
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Omodysplasia 2	Short humerus, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal humeri, Limited el...	OMIM:164745
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro...	ORPHA:167
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th...	ORPHA:2050
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ...	OMIM:618476
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Abnormal form of the vertebr...	ORPHA:2769
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ...	OMIM:271510
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Galloway-Mowat Syndrome 1	Dystonia, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture ...	OMIM:251300
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ...	ORPHA:247353
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand...	ORPHA:958
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Dystonia	OMIM:618237
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Dystonia, Upper limb hypertonia, Joint hyperflexibility	OMIM:614898
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Galloway-Mowat Syndrome 3	Arachnodactyly, Hypoalbuminemia, Hip dislocation, Camptodactyly	OMIM:617729
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98853
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost...	ORPHA:3219
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor...	ORPHA:238750
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Autism Spectrum Disorder Due To Auts2 Deficiency	Decreased palmar creases, Kyphosis, Narrow palm, Congenital contracture, Joint contracture of the...	ORPHA:352490
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Clubbing	OMIM:174900
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi...	OMIM:615084
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin...	ORPHA:36234
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Hypoalbuminemia	ORPHA:367
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Scoliosis	OMIM:618124
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Narrow palm, Short...	OMIM:615547
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Short neck, Hypopl...	OMIM:228520
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Wieacker-Wolff Syndrome	Dystonia, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Cong...	OMIM:314580
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Deep pal...	ORPHA:505248
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Xfe Progeroid Syndrome	Hypoalbuminemia, Scoliosis	OMIM:610965
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Prominent metopic ridge, Scoliosis, Bilateral single transverse palmar creases	ORPHA:85317
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr...	OMIM:128100
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Bow...	OMIM:200600
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Kyphosis, Achilles tendon...	OMIM:620351
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Hyper...	ORPHA:2479
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,...	OMIM:600920
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios...	OMIM:252500
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc...	ORPHA:1005
Intellectual Developmental Disorder, Autosomal Dominant 26	Decreased palmar creases, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arthrogryposis mul...	OMIM:615834
Sialidosis Type 2	Tremor, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Flexion contracture, Decreased serum zinc, Hypoalbuminemia, Decreased circu...	ORPHA:89842
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ...	ORPHA:536532
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio...	OMIM:616294
Atypical Rett Syndrome	Tremor, Kyphosis, Small hand, Short foot, Pill-rolling tremor, Scoliosis, Dystonia	ORPHA:3095
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla...	OMIM:304150
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal form of the...	ORPHA:2876
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density	ORPHA:2617
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Pycnodysostosis	Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la...	ORPHA:763
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis	ORPHA:1545
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology	ORPHA:2522
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal fibula morpholog...	ORPHA:3035
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Opisthotonus, Nar...	ORPHA:508533
Cousin Syndrome	Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ...	OMIM:260660
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,...	ORPHA:583
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, S...	OMIM:613658
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis	OMIM:255200
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm...	ORPHA:93274
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc...	ORPHA:64755
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Hyperlip...	ORPHA:254346
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Joint dislocation,...	ORPHA:221016
Sandhoff Disease	Kyphosis	ORPHA:796
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe...	OMIM:609465
Juvenile Polyposis Of Infancy	Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Broad phalanx of the...	ORPHA:79076
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Hyperuricemia	ORPHA:261222
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Sandal gap, Tremor, Kyphosis, Small hand, Short foot, Brachydactyly	OMIM:300354
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Hip dislocation, Scoliosis, Dystonia	ORPHA:464282
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Tremor, ...	ORPHA:85293
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Kyphosis, Scoliosis	ORPHA:99014
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Hypoalbuminemia, Action tremor, Intention tremor	OMIM:254900
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Hand tremor, Ankle clonus, Head tremor, Scoliosis	OMIM:614409
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Brachydactyly, Hyperlordosis	ORPHA:3085
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri...	ORPHA:536467
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles...	OMIM:301041
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo...	ORPHA:186
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis	OMIM:609008
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi...	ORPHA:352447
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast...	OMIM:119600
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo...	ORPHA:3144
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Short neck, Coxa vara, Wrist flex...	ORPHA:800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosis, Part...	ORPHA:476126
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Flexion contracture, Ankle clonus, Scoliosis	OMIM:609541
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T...	ORPHA:2215
Smith-Lemli-Opitz Syndrome	Sacral dimple, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, Sho...	OMIM:270400
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti...	OMIM:259770
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ...	OMIM:253220
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypo...	ORPHA:2909
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Metaphyseal sclero...	ORPHA:221008
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Flexion contract...	OMIM:130070
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta...	ORPHA:536471
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co...	OMIM:309350
Trichohepatoenteric Syndrome 1	Avascular necrosis of the capital femoral epiphysis, Increased serum iron, Hypoalbuminemia, Hyper...	OMIM:222470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Palmoplantar keratoderma	OMIM:615508
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Elbow dislocation, Patellar dislocation, Short palm, Short 1st metacarpal	ORPHA:93328
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Split hand, Hemiver...	OMIM:200980
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ...	OMIM:169400
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sin...	OMIM:619951
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ...	ORPHA:2311
Gm1 Gangliosidosis	Generalized dystonia, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Tremor, ...	ORPHA:354
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Gaisböck Syndrome	Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H...	ORPHA:90041
Hurler Syndrome	Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ...	OMIM:607014
15Q24 Microdeletion Syndrome	Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morp...	ORPHA:94065
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P...	OMIM:114290
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Cortical irregularity, Anterior concavity of thoracic verte...	OMIM:249420
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Short neck, Genu valgum, Deep palmar crease, Palmoplantar keratoderm...	ORPHA:1340
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte...	ORPHA:2021
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D...	ORPHA:37042
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert...	OMIM:314390
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino...	ORPHA:236
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior beaking of lumbar ve...	ORPHA:93
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral...	OMIM:617190
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp...	ORPHA:2658
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis	ORPHA:79396
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Single transverse palmar crease, Scoliosis	OMIM:300861
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Flynn-Aird Syndrome	Kyphosis, Bone cyst, Scoliosis, Joint stiffness	ORPHA:2047
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Marden-Walker Syndrome	Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Talipes equi...	OMIM:248700
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Hypocalcemia, Talip...	OMIM:607143
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ...	ORPHA:84
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Osteoarthritis, Hypotriglyceridemia, Hypoalbuminem...	ORPHA:2298
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T...	ORPHA:192
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ...	OMIM:618443
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Abnormal vertebral morphology, Elb...	ORPHA:95699
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination of forearm, Radiou...	ORPHA:293843
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Mcdonough Syndrome	Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:2471
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Tremor, Kyphosis, ...	OMIM:617061
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno...	ORPHA:261318
Jaberi-Elahi Syndrome	Joint stiffness, Tremor, Kyphosis, Choreoathetosis, Talipes equinovarus, Scoliosis, Dystonia, Han...	OMIM:617988
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Short neck	OMIM:608776
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo...	OMIM:276820
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat...	ORPHA:99826
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Abnormal ti...	ORPHA:2879
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion...	OMIM:210710
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Long palm, Scoliosis	OMIM:300676
Primary Sclerosing Cholangitis	Osteopenia, Hypoalbuminemia, Palmar telangiectasia, Osteoporosis	ORPHA:171
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Juvenile Polyposis Syndrome	Clubbing of fingers, Hypoproteinemia	ORPHA:2929
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum	OMIM:258850
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Narrow palm, Slender toe...	ORPHA:193
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Limited ...	OMIM:258315
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio...	OMIM:603116
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Jo...	OMIM:619381
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Rett Syndrome	Short foot, Kyphosis, Scoliosis, Dystonia	OMIM:312750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad...	ORPHA:404440
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, Kyphosis, Contracture of the dis...	OMIM:607015
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc...	OMIM:618493
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ...	ORPHA:1855
Pelizaeus-Merzbacher Disease	Joint stiffness, Kyphosis, Choreoathetosis, Scoliosis, Dystonia	ORPHA:702
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology...	ORPHA:568
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo...	OMIM:139210
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Single...	ORPHA:521426
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli...	ORPHA:3378
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Recurr...	ORPHA:955
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Dystonia	ORPHA:500180
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ...	OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Short neck, Tremor, Kyphosis, Talipes cavus equinovarus, Prominent pro...	OMIM:300966
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal...	ORPHA:2789
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Prader-Willi Syndrome	Osteopenia, Syndactyly, Kyphosis, Acromicria, Small hand, Osteoporosis, Narrow palm, Genu valgum,...	OMIM:176270
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Increased circulati...	OMIM:619534
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac...	ORPHA:77259
3C Syndrome	Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Abnormal hip...	ORPHA:7
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Sialidosis Type 1	Tremor, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ...	OMIM:616145
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility	OMIM:619718
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Mesomel...	OMIM:616482
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Torticollis, Kyphosis, Scoliosis, Joint contracture	OMIM:609029
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se...	ORPHA:96169
Noonan Syndrome 14	Scapular winging, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited...	OMIM:619745
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the hand, Kyphosis,...	OMIM:203800
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly	ORPHA:314588
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hypotrophy of the small hand ...	OMIM:610443
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Genitopalatocardiac Syndrome	Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly	ORPHA:2075
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Short neck, Proximal placement of thumb,...	ORPHA:199
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar...	OMIM:617527
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Dystonia, Ove...	OMIM:619708
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap...	ORPHA:1507
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, H...	ORPHA:96334
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus...	ORPHA:261349
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, J...	OMIM:617602
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2...	ORPHA:464738
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Finger syndactyly, Scoliosis, Genu varum	ORPHA:1969
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus...	ORPHA:2232
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas...	OMIM:218330
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc...	OMIM:130720
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long...	OMIM:616914
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Ovoid thoracolumbar vertebr...	ORPHA:3404
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8...	ORPHA:401973
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Tremor by anatomical site	ORPHA:97349
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan...	OMIM:616894
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma	ORPHA:324737
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Kyphosis, Genu recurvatum, Scoliosis	ORPHA:364028
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb...	OMIM:230500
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly	OMIM:619123
Stickler Syndrome	Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation...	ORPHA:828
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowi...	OMIM:201750
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Arm dystonia, Scoliosis	ORPHA:88644
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios...	OMIM:301040
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Lim...	ORPHA:576
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long fingers, Reduced thyr...	ORPHA:79318
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S...	ORPHA:398069
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur...	OMIM:619194
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:261144
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly	OMIM:619479
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Broad palm, Short foot, Short lo...	OMIM:269860
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Aplastic clavicle, Kyphosis, Coronal craniosynostosis, Delayed cranial suture ...	ORPHA:85199
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Split hand, Flexion contracture, Tracheobronchomalacia	OMIM:309900
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Single transverse palmar crease, 2-3 toe syndactyly, Scoliosis	OMIM:616449
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis	OMIM:619909
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis	OMIM:162300
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
16Q24.3 Microdeletion Syndrome	Kyphosis, Hip dysplasia, Proximal placement of thumb, Scoliosis	ORPHA:261250
Rett Syndrome, Congenital Variant	Kyphosis, Athetosis, Talipes equinovarus, Scoliosis, Dystonia	OMIM:613454
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Abnormal...	ORPHA:2461
Mgat2-Cdg	Osteopenia, Kyphosis, Scoliosis, Brachydactyly	ORPHA:79329
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli...	ORPHA:280
Monosomy 9Q22.3	Short neck, Palmar pits, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, P...	ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip di...	ORPHA:534
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ...	ORPHA:818
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Kyphosis, Ankle clonus, Scoliosis	OMIM:211530
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis	ORPHA:90322
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Single transverse palmar cre...	OMIM:194190
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Cowden Syndrome 5	Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:615108
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Primrose Syndrome	Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Metat...	OMIM:259050
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bones, Delayed cranial suture c...	OMIM:278250
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to...	ORPHA:3063
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Tremor, Scoliosis	ORPHA:58
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis	OMIM:617011
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99413
Turner Syndrome	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99226
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
Cowden Syndrome 6	Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:615109
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky...	ORPHA:558
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Kyphosis, Polydactyly...	ORPHA:464306
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Choreoathetosis, Polydac...	ORPHA:17
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co...	ORPHA:464311
Leptospirosis	Hyperproteinemia	ORPHA:509
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363958
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac...	OMIM:300960
Micro Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:2510
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint...	ORPHA:457359
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Elbow flexion contract...	OMIM:117650
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Tremor, Abnormal form of the vert...	ORPHA:904
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Tremor, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Widely patent fon...	ORPHA:3455
Cowden Syndrome 1	Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:158350
Atelis Syndrome 2	Clinodactyly, Kyphosis, Sacral dimple, Single transverse palmar crease	OMIM:620185
Cockayne Syndrome B	Tremor, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of...	OMIM:133540
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula...	OMIM:256040
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Hypertriglyceridemia, Short femur, Delayed closure of the anterior fonta...	OMIM:264090
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Increased femoral anteversion, Scoliosis	OMIM:619005
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis, Synostosis of the proxi...	OMIM:300967
Cockayne Syndrome A	Hip contracture, Tremor, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the phalanges...	OMIM:216400
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Joint stiffn...	ORPHA:744
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Torticollis, Osteomyelitis, Isometric tremor, Single transverse palmar c...	OMIM:619475
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La...	ORPHA:963
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La...	ORPHA:314769
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis...	OMIM:617140
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Abnormal hip bone...	ORPHA:636
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Short neck, Aplasia...	OMIM:268300
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia of t...	OMIM:135900
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia	ORPHA:1393
Cowden Syndrome	Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Brachydactyly	ORPHA:201
Triosephosphate Isomerase Deficiency	Tremor, Kyphosis, Dystonia	OMIM:615512
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger	OMIM:618367
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h...	ORPHA:97685
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4...	ORPHA:268261
Cockayne Syndrome	Kyphosis, Contractures of the large joints, Congenital contracture, Abnormal epiphysis morphology...	ORPHA:191
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis, Generalized dystonia	ORPHA:171629
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Short foot, Hip dyspla...	ORPHA:1606
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Plat...	ORPHA:2273
Sotos Syndrome	Joint laxity, Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture,...	ORPHA:821
Tetrasomy 9P	Joint dislocation, Sacral dimple, Hypoplastic scapulae, Short neck, Small hand, Arthritis, Talipe...	ORPHA:3310
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Aspartylglucosaminuria	Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaking of ...	OMIM:208400
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Scoliosis, Intention tremor	ORPHA:90324
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Viss Syndrome	Long toe, Joint laxity, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Joint hy...	OMIM:619472
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis...	OMIM:113620
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Alström Syndrome	Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Short toe, Hyperostosis front...	ORPHA:64

Histopathology

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

There is no histopathology data for Tram2

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 Tram2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tram2^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tram2^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tram2^{tm1a(KOMP)Wtsi}	PMC6459510
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Tram2^{tm1a(KOMP)Wtsi}	PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tram2^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Tram2^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Tram2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Tram2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tram2 MGI:1924817

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Tram2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data