banner
Genes Phenotypes Help, News, Blog

Gene: Sprtn MGI:2685351

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SprT-like N-terminal domain
Synonyms:
Gm505,  LOC244666

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sprtn mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... OMIM:616200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis OMIM:617404
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... OMIM:255600
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... OMIM:602484
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Mucolipidosis Type Iii
Fatigue, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... OMIM:618097
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture, Spinal rigidity, Hyperlordosis ORPHA:157973
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... ORPHA:97244
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myalgia, Multiple joint contractures, Slender build, Hyperlordosis ORPHA:352470
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis ORPHA:363454
Congenital Myopathy 16
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618524
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Joint contracture, Scoliosis OMIM:611225
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Nemaline Myopathy 5C, Autosomal Dominant
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis OMIM:620389
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... ORPHA:267
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperlordosis, Kyphosis, Obesity, Keloids ORPHA:3085
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Hyperlordosis ORPHA:62
N Syndrome
Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Failure to thrive, Multiple joint contractures, Foot joint contracture, Sho... ORPHA:536516
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture, Myalgia, Thoracic kyphosis ORPHA:206546
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... OMIM:618363
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build OMIM:161800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Aredyld Syndrome
Cachexia, Lipoatrophy, Abnormal dental enamel morphology, Scoliosis ORPHA:1133
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract, Small for gestational age ORPHA:85288
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture OMIM:610687
Adiposis Dolorosa
Fatigue, Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia OMIM:103200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Bethlem Myopathy 2
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity OMIM:609308
Flynn-Aird Syndrome
Kyphosis, Cachexia, Cataract, Scoliosis ORPHA:2047
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:2471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture OMIM:613723
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... ORPHA:98855
Myopathy, Scapulohumeroperoneal
Hyperlordosis, Achilles tendon contracture, Scoliosis, Increased connective tissue OMIM:616852
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618323
Developmental And Epileptic Encephalopathy 73
Inguinal hernia, Cataract, Flexion contracture, Scoliosis, Failure to thrive OMIM:618379
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Defective DNA repair after ultraviolet radiation damage, C... OMIM:610965
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Sudden cardiac death, Short neck, Hyperlordosis, Kyphosis, Achilles ten... ORPHA:98863
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Scoliosis OMIM:616801
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Alexander Disease Type I
Cachexia, Failure to thrive, Scoliosis ORPHA:363717
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy OMIM:615980
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Ankle flexion contracture OMIM:613818
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal pain, Slender build, Cachexia, Weight loss OMIM:613662
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma OMIM:612713
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... ORPHA:98853
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Arthralgia, Opacification of the corneal stroma, Scoliosis OMIM:252605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Myalgi... OMIM:606612
Tuberculosis
Fatigue, Weight loss ORPHA:3389
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nemaline Myopathy 2
Hyperlordosis, Spinal rigidity, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... OMIM:256030
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... ORPHA:3041
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Ankle flexion contracture, Hyperlordosis OMIM:617760
Intellectual Disability And Myopathy Syndrome
Fatigue, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis OMIM:619719
Mulibrey Nanism
Cachexia ORPHA:2576
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis OMIM:615761
Mantle Cell Lymphoma
Fatigue, Weight loss ORPHA:52416
Myasthenic Syndrome, Congenital, 14
Hyperlordosis, Scoliosis, Knee flexion contracture OMIM:616228
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis OMIM:255310
Pulmonary Blastoma
Chest pain, Weight loss ORPHA:64741
Ck Syndrome
Lumbar hyperlordosis, Slender build, Kyphoscoliosis, Asthenia ORPHA:251383
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia ORPHA:85278
Myopathy, Centronuclear, 1
Flexion contracture, Hyperlordosis OMIM:160150
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoli... ORPHA:371364
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Exercise-induced myalgia, Distal arthrogryposis, Cachexia ORPHA:42
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... OMIM:184250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Exercise intolerance, Slender build, Myalgia, Hyperlordosis OMIM:615156
Moynahan Syndrome
Cachexia ORPHA:2574
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cataract, Shoulder flexion contracture, C... OMIM:255800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Scoliosis, Shagreen patch ORPHA:2511
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Chromosome breakage OMIM:613390
Myopathy, Myofibrillar, 7
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontin... OMIM:617114
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence, Kyphosis, Scoliosis ORPHA:702
Mucopolysaccharidosis, Type Iva
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel, Hypoplasia of... OMIM:253000
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Cronkhite-Canada Syndrome
Fatigue, Cataract, Cachexia, Abdominal pain ORPHA:2930
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Ky... ORPHA:582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Myalgia, Scoliosis OMIM:607155
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hip pain, Hypoplasia of the odontoid process, I... OMIM:184100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Myalgia, Hyperlordosis OMIM:618129
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Myopathy, Distal, 1
Lumbar hyperlordosis, Myalgia, Scoliosis OMIM:160500
Renpenning Syndrome
Cataract, Iris coloboma, Cachexia ORPHA:3242
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Scoliosis, Hyperlordosis OMIM:613156
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:1387
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Arthralgia, Scoliosis OMIM:618167
Stiff Skin Syndrome
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Hump-shaped mou... OMIM:313400
Oculoskeletodental Syndrome
Hyperlordosis, Developmental cataract, Thoracic kyphosis, Scoliosis, Enamel hypoplasia ORPHA:557003
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue, Lumbar hyperlordosis, Bilateral camptodactyly, Posterior subcapsular cataract... OMIM:619234
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia ORPHA:3218
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Scoliosis, Hyperlordosis OMIM:617352
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Exercise-induced myalgia, Thoracic kyphosis, Sc... OMIM:619542
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:85293
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Kyphosis, Vertebral segmentation defect, Scoliosis, Shagreen patch ORPHA:2617
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Hyperlordosis OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Flexion contracture, Hyperlordosis OMIM:611588
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Riboflavin Transporter Deficiency
Cachexia, Iris hypopigmentation ORPHA:97229
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Short neck, Kyphosis, Camptodactyly OMIM:618393
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Scoli... ORPHA:300605
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Kyphosis, Microcornea, Scoliosis, Abnormality of the cervical ... ORPHA:48431
Majeed Syndrome
Cachexia, Flexion contracture, Bone pain, Weight loss, Arthralgia, Myalgia, Failure to thrive ORPHA:77297
Spinal Arteriovenous Metameric Syndrome
Fatigue, Kyphoscoliosis, Cutaneous angiolipomas, Bone pain, Abnormality of the vertebral column, ... ORPHA:53721
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... OMIM:314580
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... OMIM:253010
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... OMIM:618484
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:619060
Lipodystrophy, Congenital Generalized, Type 4
Exercise intolerance, Lipodystrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Myalgia... OMIM:613327
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Scoliosis OMIM:300624
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal ve... OMIM:616817
Eosinophilic Fasciitis
Fatigue, Fasciitis, Weight loss, Arthralgia, Myalgia, Cellulitis ORPHA:3165
Typical Nemaline Myopathy
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Arthrogrypo... ORPHA:171436
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... OMIM:234250
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Kyphosis, Abnormal fo... ORPHA:2635
Schwartz-Jampel Syndrome
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Hyperlordosis,... ORPHA:800
Gm1 Gangliosidosis
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form... ORPHA:354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Scoliosis, Hyperlordosis OMIM:253700
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Short neck, Kyphoscoliosi... OMIM:114300
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture ORPHA:353327
Ring Chromosome 10 Syndrome
Cachexia, Short neck ORPHA:1438
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract ORPHA:1875
Undifferentiated Pleomorphic Sarcoma
Fatigue, Weight loss ORPHA:2023
Idiopathic Bronchiectasis
Halitosis, Chest pain, Cachexia ORPHA:60033
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Myalgia... OMIM:619040
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Tetrasomy 12P
Cachexia, Short neck ORPHA:884
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Hip pain OMIM:167320
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures ORPHA:3454
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Kyphosis, Congenital contracture, Joint contracture o... ORPHA:352490
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis ORPHA:353
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... OMIM:616200
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology ORPHA:100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Abnormality of the vertebral column, Hip pain, Hyperlordosis ORPHA:52430
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis... OMIM:615834
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Immunodeficiency 54
Chromosome breakage, Failure to thrive OMIM:609981
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... OMIM:614205
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Marfan Syndrome
Inguinal hernia, Flat cornea, Arthralgia/arthritis, Chronic fatigue, Cachexia, Lens luxation, Ect... ORPHA:558
Idiopathic Achalasia
Chest pain, Weight loss ORPHA:930
Full Schwannomatosis
Lipoma, Pain, Cataract, Scoliosis ORPHA:93921
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scol... ORPHA:2789
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills, Panniculitis, Weight loss ORPHA:86884
Baralle-Macken Syndrome
Kyphosis, Urinary incontinence, Cataract, Obesity OMIM:619255
Sialidosis Type 2
Inguinal hernia, Corneal opacity, Kyphosis, Flexion contracture, Umbilical hernia ORPHA:87876
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Lipoatrophy, Scoliosis ORPHA:64755
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal pain, Cachexia, Weight loss ORPHA:298
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Short neck OMIM:611890
Congenital Myopathy 10B, Mild Variant
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis OMIM:620249
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Sjögren-Larsson Syndrome
Kyphosis, Corneal erosion, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Muscular Dystrophy, Duchenne Type
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contractures, Knee fle... OMIM:310200
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... ORPHA:75840
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:1323
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia OMIM:618272
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Microphthalmia, Lenz Type
Cataract, Camptodactyly of finger, Hyperlordosis, Kyphosis, Microcornea, Scoliosis, Iris coloboma ORPHA:568
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... OMIM:130060
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyly, Scoliosis OMIM:251450
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification of the co... OMIM:230650
Bethlem Myopathy
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... ORPHA:610
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Abdominal pain, Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:86812
Alpha-Mannosidosis
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis ORPHA:61
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Encopresis, Obesity, Scoliosis OMIM:618443
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
19Q13.11 Microdeletion Syndrome
Microcornea, Failure to thrive, Cataract, Cachexia ORPHA:217346
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Camurati-Engelmann Disease
Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Bone pain, Abno... ORPHA:1328
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Irapa Type
Arthralgia, Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Pseudomyxoma Peritonei
Abdominal pain, Hernia, Weight loss ORPHA:26790
Short Syndrome
Inguinal hernia, Posterior embryotoxon, Lipodystrophy, Abnormal dental enamel morphology, Corneal... ORPHA:3163
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris col... ORPHA:391474
Arthrogryposis, Distal, Type 5
Keratoconus, Exercise intolerance, Kyphosis, Keratoglobus, Distal arthrogryposis, Astigmatism, Sc... OMIM:108145
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Arthralgia, Scoliosis ORPHA:813
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Weight loss ORPHA:100083
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Primary Myelofibrosis
Fatigue, Flank pain, Constitutional symptom, Cachexia ORPHA:824
Fucosidosis
Lipoatrophy, Corneal opacity, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive ORPHA:349
Braddock-Carey Syndrome 1
Hyperlordosis, Enamel hypoplasia, Camptodactyly OMIM:619980
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Myalgia, Hyperlordosis ORPHA:369840
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Chromosomal breakage in... OMIM:609053
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Arthralgia, Scoliosis, Verte... ORPHA:93352
3Mc Syndrome
Hyperlordosis, Abnormal anterior chamber morphology, Prominent coccyx, Scoliosis, Umbilical herni... ORPHA:293843
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Scoliosis, Joint contracture OMIM:615381
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... OMIM:230000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal st... OMIM:616007
Hypomelanosis Of Ito
Kyphosis, Cataract, Iris coloboma, Scoliosis OMIM:300337
Myotonia Permanens
Chest pain, Myalgia, Hyperlordosis ORPHA:99735
Three M Syndrome 1
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... OMIM:273750
Bannayan-Riley-Ruvalcaba Syndrome
Lipoma, Cachexia, Scoliosis ORPHA:109
3M Syndrome
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... ORPHA:2616
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger ORPHA:2848
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Cachexia, Abdominal pain OMIM:175500
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive OMIM:617883
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
Bone Marrow Failure Syndrome 3
Chromosome breakage, Astigmatism, Hernia, Enamel hypoplasia, Failure to thrive, Amelogenesis impe... OMIM:617052
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract OMIM:610756
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Hyperlordosis ORPHA:169186
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology, Scoliosis ORPHA:808
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... OMIM:169550
Marinesco-Sjogren Syndrome
Kyphosis, Flexion contracture, Developmental cataract, Scoliosis, Failure to thrive OMIM:248800
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Arthralgia, Be... OMIM:215150
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Overweight, Astigmatism, Lumbar scoliosis, Cervi... OMIM:617796
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Kyphosis, Scoliosis ORPHA:2181
Sialidosis Type 1
Cataract, Corneal opacity, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hernia ORPHA:812
Crisponi Syndrome
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis ORPHA:1545
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly OMIM:615065
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Desmoplastic Small Round Cell Tumor
Abdominal pain, Cachexia, Weight loss ORPHA:83469
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Arthralgia, Abnormal... ORPHA:174
Trisomy 18
Omphalocele, Cataract, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Microc... ORPHA:3380
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:1798
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Failure to thrive, Hyperlordosis OMIM:600462
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... OMIM:607095
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Spondylolysis, Scoliosis, Enamel hypoplasia, S... ORPHA:763
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoli... ORPHA:2020
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium ORPHA:2771
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck OMIM:612921
Whipple Disease
Fatigue, Cachexia, Abdominal pain, Chest pain, Arthralgia, Myalgia ORPHA:3452
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Opacification of the corneal stroma, Hernia, Failur... ORPHA:583
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Cataract, Urinary incontinence, Scoliosis OMIM:614409
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, Weight loss ORPHA:86893
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Cataract, Block vertebrae, Short neck, Hyperlordosis, Hypoplas... OMIM:272460
Icf Syndrome
Umbilical hernia, Abnormality of chromosome stability ORPHA:2268
Stickler Syndrome
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Kyphosis, Bone pain, Spina... ORPHA:828
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Cataract, Urinary incontinence, Cachexia, Band keratopathy, ... ORPHA:191
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Chronic Hiccup
Recurrent singultus, Weight loss ORPHA:396
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Scoliosis, Hyperlordosis OMIM:300986
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... ORPHA:1427
Nodular Non-Suppurative Panniculitis
Abdominal pain, Weight loss, Panniculitis, Myalgia, Arthralgia ORPHA:33577
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Cataract, Flexion contracture, Irregular vertebral endplates, Coronal cleft vert... OMIM:222765
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis OMIM:618870
Weill-Marchesani Syndrome 2
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, E... OMIM:608328
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis OMIM:180870
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Smith-Mccort Dysplasia 2
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight OMIM:615222
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Lumbar hyperlordosis, Abnormality iris morphology, Cataract ORPHA:370959
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive, Hernia, Short neck ORPHA:1842
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:77258
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Scoliosis, Camptodactyly, A... OMIM:615547
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Nail-Patella Syndrome
Back pain, Lester's sign, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint o... ORPHA:2614
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Platyspondyl... OMIM:242900
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Martsolf Syndrome 1
Inguinal hernia, Cataract, Lumbar hyperlordosis, Thoracic scoliosis, Developmental cataract OMIM:212720
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Hernia, Scoliosis,... ORPHA:94065
Hemifacial Atrophy, Progressive
Trigeminal neuralgia, Kyphosis OMIM:141300
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Weight loss ORPHA:317
Fanconi Anemia, Complementation Group C
Small for gestational age, Flexion contracture, Anterior wedging of T12, Deficient excision of UV... OMIM:227645
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Huntington Disease-Like 2
Weight loss ORPHA:98934
Cohen Syndrome
Small for gestational age, Thoracic scoliosis, Lumbar hyperlordosis, Childhood-onset truncal obesity OMIM:216550
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom... ORPHA:175
Hurler-Scheie Syndrome
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Contracture of the distal interphalang... OMIM:607015
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Obesity, Scoliosis OMIM:618124
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Wolman Disease
Cachexia ORPHA:75233
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Scoliosis OMIM:617244
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Arthralgia, Sc... OMIM:177170
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... OMIM:613385
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... ORPHA:573278
Osteopathia Striata-Cranial Sclerosis Syndrome
Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... ORPHA:2839
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Pfapa Syndrome
Fatigue, Abdominal pain, Arthralgia, Weight loss ORPHA:42642
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slender build OMIM:254090
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Bowel incontinence, Kyphosis, Chronic pain, Scoliosis, Camptodactyly, Flexion contractu... ORPHA:88628
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Abnormal vertebral morphology, Short neck OMIM:300514
Joubert Syndrome 37
Lumbar hyperlordosis, Obesity OMIM:619185
Follicular Lymphoma
Fatigue, Night sweats, Weight loss ORPHA:545
Pure Mitochondrial Myopathy
Exercise intolerance, Lumbar hyperlordosis, Myalgia, Scoliosis ORPHA:254854
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... ORPHA:2311
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck OMIM:609625
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... OMIM:619698
Nail-Patella Syndrome
Back pain, Keratoconus, Lumbar hyperlordosis, Cataract, Antecubital pterygium, Microcornea, Scoli... OMIM:161200
X-Linked Agammaglobulinemia
Fatigue, Weight loss, Conjunctivitis, Cellulitis, Failure to thrive ORPHA:47
Cockayne Syndrome Type 2
Scarring, Kyphosis, Flexion contracture, Developmental cataract, Conjunctivitis, Scoliosis, Ename... ORPHA:90322
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... OMIM:253200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Astigmatism, Scoliosis OMIM:619797
Arthrogryposis, Distal, Type 4
Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis, Scoliosis, C... OMIM:609128
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hyperlordosis, Increased connective tissue, Flexion contracture, Scoliosis, Decreased body weight ORPHA:258
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Small for gestational age, Short n... ORPHA:1830
Trisomy 13
Cataract, Kyphosis, Aplasia/Hypoplasia of the iris, Scoliosis, Hernia, Iris coloboma ORPHA:3378
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Joint contracture, Lumbar hyperlordosis OMIM:602471
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe, Joint contracture of th... OMIM:300280
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Abdominal pain, Weight loss, Abdominal cramps, Slender build, Allodynia OMIM:603041
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Urinary incontinence, Obesity, Scoliosis ORPHA:464282
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Kyphosis, Hemivertebrae, Abn... ORPHA:2916
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Alexander Disease
Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Bowel incontinence, Recurrent singultu... ORPHA:58
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... OMIM:619636
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Cataract, Ectopia lentis, Microspherophakia, Spinal canal stenosis, Shallow... OMIM:277600
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Kyphosis, Absence of subcutaneo... OMIM:616914
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Abnormal sacroiliac joint morphology, Bone pain, Weight loss, Scoliosis, Abnormal verteb... ORPHA:324964
Pelger-Huet Anomaly
Umbilical hernia, Failure to thrive, Kyphosis OMIM:169400
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma, Abdominal pain ORPHA:79076
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contracture, Flexion... OMIM:301041
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Arthralgia, Cellulitis OMIM:614878
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental enamel morphology, Hyperlordosis ORPHA:3253
Proteus Syndrome
Central heterochromia, Cataract, Abnormal dental enamel morphology, Cachexia, Sudden cardiac deat... ORPHA:744
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Poems Syndrome
Fatigue, Lipodystrophy, Weight loss, Pain, Sclerotic vertebral endplates ORPHA:2905
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Short neck OMIM:610832
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis ORPHA:3068
Mast Cell Sarcoma
Fatigue, Weight loss ORPHA:66661
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Cowden Syndrome 5
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma OMIM:615108
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Exercise intolerance, Bowel incontinence, Hyperlordosis, Flexion contracture, Chronic pa... ORPHA:365
Fanconi Anemia
Abnormality of chromosome stability, Cataract, Weight loss, Aplasia/Hypoplasia of the iris, Astig... ORPHA:84
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Exercise intolerance, Spinal rigidity OMIM:615084
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hernia of the abdominal wall, Short neck ORPHA:3082
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Myalgia, Hyperlordosis ORPHA:26791
Isaacs Syndrome
Weight loss ORPHA:84142
Wilson Disease
Back pain, Bone pain, Increased body weight, Weight loss, Kayser-Fleischer ring, Arthralgia, Fail... ORPHA:905
Trichorhinophalangeal Syndrome, Type I
Arthralgia, Scoliosis, Hyperlordosis OMIM:190350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Scoliosis ORPHA:261190
Emanuel Syndrome
Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Astigmatism, Scoliosis... OMIM:609029
Bloom Syndrome
Cryptorchidism, Abnormality of chromosome stability, Azoospermia, Chromosome breakage OMIM:210900
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... OMIM:271510
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Kyphoscoliosis, Hyperlordosi... ORPHA:653
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:613951
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Myopic astigmatism, Obesity, Hyperlordosis OMIM:301066
Stickler Syndrome, Type I
Cataract, Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebra... OMIM:108300
Cowden Syndrome 6
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma OMIM:615109
Takayasu Arteritis
Fatigue, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:3287
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contract... OMIM:620351
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly OMIM:616482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Myalgia, Scoliosis, Hyperlordosis OMIM:615356
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hypoplastic sacrum, Chromosomal breakage induced by crosslinking agents, Sho... OMIM:614083
Liposarcoma
Fatigue, Abdominal pain, Weight loss ORPHA:69078
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Inguinal hernia, Kyphosis, Scoliosis ORPHA:3121
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... ORPHA:649
Distal Deletion 10Q
Lumbar hyperlordosis, Failure to thrive, Spina bifida occulta, Astigmatism ORPHA:96148
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Hallermann-Streiff Syndrome
Cataract, Small for gestational age, Hyperlordosis, Scoliosis, Iris coloboma OMIM:234100
Pleural Mesothelioma
Constitutional symptom, Chest pain, Weight loss ORPHA:50251
Distal Triplication 15Q
Corneal dystrophy, Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Hernia, C... ORPHA:314588
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Cachexia, Short neck ORPHA:647
Fanconi Anemia, Complementation Group F
Sacral dimple, Failure to thrive, Chromosomal breakage induced by crosslinking agents OMIM:603467
Classic Hodgkin Lymphoma
Fatigue, Chest pain, Bone pain, Weight loss ORPHA:391
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis OMIM:617143
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Lumbar hyperlordosis, Astigmatism, Hyperlordosis OMIM:616078
Polymyositis
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia, Chondrocalcinosis ORPHA:732
Harrod Syndrome
Kyphosis, Failure to thrive, Cataract, Scoliosis ORPHA:2115
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:79107
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:250420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Flexion contracture, Lumbar kyphosis, Thoracic kyphosis, Conjun... ORPHA:505248
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Hyperlordosis ORPHA:221139
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis OMIM:162300
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Cataract ORPHA:324737
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Thymic Carcinoma
Fatigue, Chest pain, Weight loss ORPHA:99868
Gm1-Gangliosidosis, Type I
Inguinal hernia, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... OMIM:230500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Exercise intolerance, Spinal rigidity ORPHA:352447
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... OMIM:253220
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis OMIM:616449
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Bowel incontinence, Hyperlordosis ORPHA:261330
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Bone pain ORPHA:85193
Lymphoid Interstitial Pneumonia
Fatigue, Weight loss, Keratoconjunctivitis sicca, Abnormality of connective tissue, Failure to th... ORPHA:79128
Hurler Syndrome
Inguinal hernia, Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexi... OMIM:607014
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Astigmatism, Scoliosis OMIM:618493
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Lumbar hyperlordosis, Sacral dimple, Short neck, Ca... OMIM:305450
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Huntington Disease-Like 2
Weight loss OMIM:606438
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:600901
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis OMIM:259420
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Short neck OMIM:608776
Desbuquois Dysplasia 2
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Microsporidiosis
Cachexia, Abdominal pain, Keratitis, Weight loss, Keratoconjunctivitis, Corneal ulceration ORPHA:2552
Marden-Walker Syndrome
Inguinal hernia, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Joint co... OMIM:248700
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis ORPHA:236
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain, Weight loss ORPHA:65682
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Failure... OMIM:619950
Non-Functioning Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain, Weight loss ORPHA:94080
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
3C Syndrome
Inguinal hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Iris coloboma ORPHA:7
Leishmaniasis
Fatigue, Night sweats, Arthralgia, Weight loss ORPHA:507
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Revesz Syndrome
Abnormality of chromosome stability, Megalocornea, Leukocoria OMIM:268130
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227650
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis OMIM:106300
Cowden Syndrome 1
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma OMIM:158350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Cryptogenic Organizing Pneumonia
Fatigue, Night sweats, Weight loss, Chest pain, Arthralgia ORPHA:1302
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Cachexia, Corneal opacity, Scoliosis ORPHA:2072
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Jaberi-Elahi Syndrome
Kyphosis, Failure to thrive, Cataract, Scoliosis OMIM:617988
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Ocular pain, Anisocoria, Posterior s... ORPHA:263479
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... ORPHA:2479
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Riddle Syndrome
Conjunctival telangiectasia, Abdominal pain, Chromosomal breakage induced by ionizing radiation, ... ORPHA:420741
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Yao Syndrome
Abdominal pain, Weight loss, Keratoconjunctivitis sicca, Arthralgia, Myalgia, Chest pain OMIM:617321
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Lysosomal Acid Lipase Deficiency
Abdominal pain, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Focal Myositis
Myalgia, Weight loss ORPHA:48918
Juvenile Huntington Disease
Weight loss ORPHA:248111
Hirschsprung Disease
Abdominal pain, Failure to thrive in infancy, Weight loss ORPHA:388
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Developmental cataract, Scolio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Developmental cataract, Scolio... ORPHA:363958
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:261318
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Ocular pain, Abnormal anterior ch... ORPHA:67043
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Abdominal obesity OMIM:300354
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... ORPHA:63259
Koolen-De Vries Syndrome
Vertebral fusion, Cataract, Abnormal dental enamel morphology, Kyphosis, Vertebral segmentation d... ORPHA:96169
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis, Congenital diaphragmatic hernia ORPHA:2075
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... OMIM:250250
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Small for gestational age ORPHA:1439
Chronic Beryllium Disease
Fatigue, Weight loss ORPHA:133
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Stiff-Person Syndrome
Lumbar hyperlordosis OMIM:184850
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Umbilical hernia, Scoliosis, Keloids, Bi... OMIM:130720
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies ORPHA:2050
Hermansky-Pudlak Syndrome
Fatigue, Cataract, Abnormal dental enamel morphology, Abdominal pain, Ocular albinism, Weight los... ORPHA:79430
Felty Syndrome
Weight loss, Arthralgia, Cellulitis ORPHA:47612
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Kaposi Sarcoma
Fatigue, Weight loss ORPHA:33276
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive OMIM:617602
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis ORPHA:522077
Aggressive Systemic Mastocytosis
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym... ORPHA:98850
Inflammatory Bowel Disease (Crohn Disease) 1
Abdominal pain, Weight loss OMIM:266600
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, Sacral dimple, Kyphos... ORPHA:536532
Sponastrime Dysplasia
Shoulder pain, Lumbar hyperlordosis, Cataract, Small for gestational age, Kyphoscoliosis, Hyperco... ORPHA:93357
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis ORPHA:1005
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive ORPHA:500055
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Solitary Fibrous Tumor
Fatigue, Low back pain, Night sweats, Weight loss ORPHA:2126
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck ORPHA:251028
Lymphedema-Distichiasis Syndrome
Kyphosis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Corneal ulceration OMIM:153400
Inflammatory Bowel Disease 11
Abdominal pain, Weight loss OMIM:191390
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Episodic pain, Ear pain, Mandibular pain, Weight loss, Tongue ... ORPHA:221098
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Dentinogenesis imperfecta, Scoliosis OMIM:166220
Williams Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Arthralgia, Megalocornea, S... ORPHA:904
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Obesity, Truncal obesity, Astigmatism, Scoliosis, Failure to thrive OMIM:615873
8P23.1 Microdeletion Syndrome
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck ORPHA:251071
Monosomy 9Q22.3
Cataract, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral column, U... ORPHA:77301
Rhabdoid Tumor
Abdominal pain, Weight loss ORPHA:69077
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Classic Homocystinuria
Cataract, Ectopia lentis, Kyphosis, Scoliosis, Hernia ORPHA:394
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Hyperlordosis ORPHA:268
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive ORPHA:92050
Rheumatoid Arthritis
Fatigue, Arthralgia, Weight loss OMIM:180300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Kyphosis, Scoliosis OMIM:617061
Polyarteritis Nodosa
Abdominal pain, Arthralgia, Myalgia, Weight loss ORPHA:767
Nephroblastoma
Aniridia, Abdominal pain, Weight loss ORPHA:654
Meningioma
Back pain, Urinary incontinence, Trigeminal neuralgia, Ear pain, Obesity, Chromosomal breakage in... ORPHA:2495
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Systemic Capillary Leak Syndrome
Fatigue, Abdominal pain, Weight loss, Myalgia, Constitutional symptom ORPHA:188
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Deafness-Lymphedema-Leukemia Syndrome
Fatigue, Weight loss ORPHA:3226
Immunodeficiency 27A
Night sweats, Weight loss OMIM:209950
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Small for gestational age, Kyph... OMIM:610443
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, Allergi... OMIM:176690
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Scoliosis, Knee flexion contracture OMIM:118650
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... ORPHA:2062
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Chromosomal... OMIM:227646
Igg4-Related Aortitis
Low back pain, Abdominal pain, Weight loss ORPHA:449400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Weight loss, Enthesitis, Arthralgia, Myalgia, Abnormality of the cervical spine ORPHA:85408
Hajdu-Cheney Syndrome
Inguinal hernia, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bone pain, Art... ORPHA:955
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Slender build, Scoliosis ORPHA:364028
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Malignant Atrophic Papulosis
Fatigue, Cataract, Abdominal pain, Weight loss, Chest pain ORPHA:679
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Micro Syndrome
Microcornea, Kyphosis, Cataract, Scoliosis ORPHA:2510
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Macular scar OMIM:239000
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita ORPHA:2215
Osteosarcoma
Pain, Weight loss ORPHA:668
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Kyphosis, Developmental cataract,... OMIM:133540
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Failure to thrive ORPHA:261349
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... OMIM:610915
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Lumbar hyperlordosis, Kyphosis ORPHA:2232
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Short neck, Kyphosis, Flexion contracture, Umbilical hernia OMIM:309900
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Failure to thrive OMIM:212065
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Contracture of the pro... ORPHA:464738
Loeffler Endocarditis
Fatigue, Chest pain, Weight loss ORPHA:75566
Huntington Disease-Like 1
Weight loss ORPHA:157941
Parathyroid Carcinoma
Fatigue, Bone pain, Weight loss, Episodic abdominal pain, Lipoma, Mandibular pain, Chondrocalcinosis ORPHA:143
Pulmonary Non-Tuberculous Mycobacterial Infection
Chest pain, Asthenia, Weight loss ORPHA:411703
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis OMIM:619951
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build ORPHA:457359
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, ... ORPHA:3042
Wolf-Hirschhorn Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Sclerocornea, Kyphosis, Abnormal form of the vert... ORPHA:280
Cystic Echinococcosis
Fatigue, Abnormality of the vertebral column, Epigastric pain, Weight loss ORPHA:400
Lynch Syndrome
Fatigue, Abdominal pain, Flexion contracture, Weight loss ORPHA:144
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Sacral dimple, Thoracolumb... OMIM:619503
Cowden Syndrome
Cataract, Kyphosis, Scoliosis, Lipoma, Failure to thrive, Conjunctival hamartoma ORPHA:201
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Sc... ORPHA:251014
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Corneal opacity, Small for gestational age, Ankle flexion contracture, Kyphosi... ORPHA:464311
Perry Syndrome
Weight loss ORPHA:178509
Cap Polyposis
Abdominal pain, Weight loss ORPHA:160148
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Cataract, Keratitis, Weight loss, Chest pain, Anterior lenticonus, Precordial pain, Fa... ORPHA:1018
Alstrom Syndrome
Kyphosis, Subcapsular cataract, Truncal obesity, Scoliosis OMIM:203800
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... OMIM:259770
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
Idiopathic Chronic Eosinophilic Pneumonia
Night sweats, Arthralgia, Asthenia, Weight loss ORPHA:2902
Peritoneal Cystic Mesothelioma
Abdominal pain, Weight loss ORPHA:168816
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Episodic abdominal pain, Upper limb pain, Weight loss ORPHA:370348
Alveolar Echinococcosis
Fatigue, Low back pain, Abdominal pain, Weight loss, Chest pain, Asthenia, Epigastric pain, Abnor... ORPHA:284
Familial Colorectal Cancer Type X
Fatigue, Abdominal pain, Flexion contracture, Weight loss ORPHA:440437
Malignant Peritoneal Mesothelioma
Abdominal pain, Weight loss ORPHA:168811
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Acute Promyelocytic Leukemia
Fatigue, Abdominal pain, Bone pain, Weight loss, Gangrene ORPHA:520
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Inguinal hernia OMIM:609944
Celiac Disease, Susceptibility To, 1
Abdominal pain, Weight loss, Arthralgia, Enamel hypoplasia, Failure to thrive OMIM:212750
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Scoliosis, Failure to th... ORPHA:398069
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia OMIM:301040
Acute Monoblastic/Monocytic Leukemia
Fatigue, Weight loss ORPHA:514
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Corneal opacity, Small for gestational age, Kyphosis, Astigmatism, S... ORPHA:464306
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Urinary incontinence, Scoliosis ORPHA:88644
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Klatskin Tumor
Fatigue, Abdominal pain, Weight loss ORPHA:99978
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Hypop... OMIM:619194
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Kyphosis OMIM:617527
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Coffin-Lowry Syndrome
Kyphosis, Cataract, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Kyphosis ORPHA:521426
Giant Cell Arteritis
Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Arthralgia, Myalgia, Gangrene ORPHA:397
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Kyphosis, Atypical scarring of sk... OMIM:216400
Granulomatosis With Polyangiitis
Fatigue, Keratitis, Weight loss, Asthenia, Conjunctivitis, Myalgia, Gangrene OMIM:608710
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Branchiooculofacial Syndrome
Cataract, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Atypical scarring of sk... OMIM:113620
Anaplastic Thyroid Carcinoma
Pain, Weight loss ORPHA:142
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Arthralgia, Body odor OMIM:300942
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Kyphosis, Corneal scarring, Developmental cataract, P... OMIM:309000
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Failure to thrive, Kyphosis,... OMIM:618050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Chest pain, Weight loss ORPHA:79127
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Th... OMIM:602535
Weaver Syndrome
Inguinal hernia, Kyphosis, Scoliosis, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:277590
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Scoliosis, Peters anomaly OMIM:616975
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... OMIM:249420
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Urinary incontinence, Scoliosis ORPHA:476126
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Abdominal pain, Arthralgia, Weight loss ORPHA:465508
Holocarboxylase Synthetase Deficiency
Weight loss, Keratoconjunctivitis ORPHA:79242
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Obesity, Scoliosis, Iris coloboma ORPHA:193
Aspartylglucosaminuria
Cataract, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Beaking of vertebral bodies,... OMIM:208400
Nocardiosis
Fatigue, Keratitis, Ocular pain, Night sweats, Weight loss, Chest pain, Conjunctivitis, Celluliti... ORPHA:31204
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain, Weight loss ORPHA:276621
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Familial Pancreatic Carcinoma
Back pain, Abdominal pain, Chronic fatigue, Weight loss ORPHA:1333
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia ORPHA:183
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Asthenia, Weight loss ORPHA:90003
Alkaptonuria
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Intervert... OMIM:203500
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Ménétrier Disease
Abdominal pain, Asthenia, Weight loss ORPHA:2494
Aicardi-Goutieres Syndrome 9
Failure to thrive, Scoliosis, Weight loss OMIM:619487
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Kyphosis, Knee flexion contracture, Weight loss, Umbilical hernia ORPHA:576
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Episodic abdominal pain, Weight loss, Chest pain, Aniridia ORPHA:29072
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
16Q24.3 Microdeletion Syndrome
Kyphosis, Astigmatism, Scoliosis ORPHA:261250
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Failure to thrive, Bone pain, Weight loss OMIM:256700
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Absence of subcutaneous fat, Hemivertebrae... ORPHA:2911
Oromandibular Dystonia
Pain, Weight loss ORPHA:93958
Cockayne Syndrome Type 3
Cataract, Kyphosis, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Sc... ORPHA:90324
Reactive Arthritis
Abdominal pain, Weight loss, Enthesitis, Arthralgia, Conjunctivitis ORPHA:29207
Neurofibromatosis Type 1
Cataract, Corneal opacity, Kyphosis, Multiple lipomas, Scoliosis, Lisch nodules, Heterochromia ir... ORPHA:636
Wild Type Attr Amyloidosis
Bowel incontinence, Weight loss ORPHA:330001
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Bullous Pemphigoid
Weight loss ORPHA:703
Diffuse Alveolar Hemorrhage
Chest pain, Weight loss ORPHA:90060
Familial Glucocorticoid Deficiency
Failure to thrive, Chronic fatigue, Episodic abdominal pain, Weight loss ORPHA:361
Somatostatinoma
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss ORPHA:97283
Eosinophilic Gastroenteritis
Abdominal pain, Weight loss ORPHA:2070
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Abdominal pain, Flank pain, Weight loss, Pain ORPHA:49041
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Cataract, Abdominal pain, Anterior chamber flare, Flank pain, Ocular pain, Weight loss, ... ORPHA:91500
Prader-Willi Syndrome
Failure to thrive in infancy, Kyphosis, Obesity, Abdominal obesity, Scoliosis, Iris hypopigmentation OMIM:176270
Polycythemia Vera
Fatigue, Abdominal pain, Arthralgia, Weight loss ORPHA:729
Osteogenesis Imperfecta
Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Cervical kyphosis, Small for... ORPHA:666
Multiple Myeloma
Fatigue, Vertebral compression fracture, Bone pain, Weight loss ORPHA:29073
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Chest pain, Weight loss ORPHA:747
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Zollinger-Ellison Syndrome
Lipoma, Multiple lipomas, Episodic abdominal pain, Weight loss ORPHA:913
Late-Onset Isolated Acth Deficiency
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive ORPHA:199299
Refractory Celiac Disease
Abdominal pain, Arthralgia, Weight loss ORPHA:398063
Dermatomyositis
Fatigue, Weight loss, Arthralgia, Myalgia, Cellulitis, Gangrene, Chondrocalcinosis ORPHA:221
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia ORPHA:98849
Primary Hepatic Neuroendocrine Carcinoma
Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss ORPHA:100085
Stevens-Johnson Syndrome
Fatigue, Sudden cardiac death, Abdominal pain, Corneal erosion, Weight loss, Conjunctivitis ORPHA:36426
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Localized hypoplasia of dental enamel, Hyperlordosis ORPHA:73223
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Failure to thrive, Lumbar hyperlordosis, Decreased body weight OMIM:618371
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Myalgia, Weight loss ORPHA:54251
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology, Kyphosis, Abnormal... ORPHA:534
Vipoma
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss ORPHA:97282
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Sacral dimple, Cataract, Small for gestational age, Failure to thrive in infancy... ORPHA:268261
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lisch nodules, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Acrodermatitis Enteropathica
Corneal erosion, Failure to thrive, Conjunctivitis, Weight loss ORPHA:37
Toxic Epidermal Necrolysis
Fatigue, Sudden cardiac death, Abdominal pain, Corneal erosion, Weight loss, Conjunctivitis ORPHA:537
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Bone pain, Abdominal pain ORPHA:77259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel mo... ORPHA:2273
Marden-Walker Syndrome
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Arthrogrypos... ORPHA:2461
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Mend Syndrome
Sacral dimple, Failure to thrive, Cataract, Kyphosis, Anterior polar cataract OMIM:300960
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Tropical Endomyocardial Fibrosis
Fatigue, Cachexia ORPHA:75565
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Glucagonoma
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss ORPHA:97280
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmenta... ORPHA:1507
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Thymic Neuroendocrine Tumor
Chest pain, Weight loss ORPHA:97289
Ramon Syndrome
Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight OMIM:266270
Thymoma
Chest pain, Night sweats, Myalgia, Weight loss ORPHA:99867
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Myalgia, Lower limb pain ORPHA:1855
Ppoma
Episodic abdominal pain, Subcutaneous lipoma, Weight loss ORPHA:97278
Castleman Disease
Fatigue, Abdominal pain, Flank pain, Weight loss, Constitutional symptom ORPHA:160
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Simple Cryoglobulinemia
Fatigue, Abdominal pain, Arthralgia, Weight loss ORPHA:91139
Smith-Lemli-Opitz Syndrome
Cataract, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Short neck, Scleroc... ORPHA:818
Perry Syndrome
Weight loss OMIM:168605
Rat-Bite Fever
Back pain, Rigors, Weight loss, Arthralgia, Myalgia, Chills ORPHA:31205
Renal Nutcracker Syndrome
Fatigue, Flank pain, Abdominal pain, Weight loss ORPHA:71273
Mgat2-Cdg
Kyphosis, Failure to thrive, Scoliosis ORPHA:79329
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... ORPHA:198
Atelis Syndrome 2
Kyphosis, Sacral dimple, Developmental cataract OMIM:620185
Juvenile Dermatomyositis
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia ORPHA:93672
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Bronchial Neuroendocrine Tumor
Chest pain, Night sweats, Weight loss ORPHA:97287
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Fatigue, Cataract, Abdominal pain, Overweight, Kyphosis, Obesity, Abnormal curvature o... OMIM:619475
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Cataract, Weight loss OMIM:607459
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Mend Syndrome
Kyphosis, Sacral dimple, Cataract, Failure to thrive ORPHA:401973
Adrenocortical Carcinoma
Abdominal pain, Increased body weight, Weight loss ORPHA:1501
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis, Decreased body weight OMIM:619005
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain, Weight loss ORPHA:100086
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Weight loss ORPHA:20
Al Amyloidosis
Fatigue, Weight loss ORPHA:85443
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain, Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Fatal Familial Insomnia
Weight loss OMIM:600072
Acute Adrenal Insufficiency
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive ORPHA:95409
Neuroendocrine Tumor Of The Colon
Abdominal pain, Weight loss ORPHA:100080
Beta-Ketothiolase Deficiency
Body odor, Weight loss ORPHA:134
Primary Intestinal Lymphangiectasia
Abdominal pain, Weight loss ORPHA:90362
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Abdominal pain, Weight loss ORPHA:85450
Grfoma
Episodic abdominal pain, Subcutaneous lipoma, Weight loss ORPHA:97261
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Triosephosphate Isomerase Deficiency
Kyphosis, Failure to thrive OMIM:615512
Budd-Chiari Syndrome
Abdominal pain, Weight loss ORPHA:131
Osteootohepatoenteric Syndrome
Abdominal pain, Failure to thrive, Weight loss OMIM:619377
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Failure to thrive, Weight loss ORPHA:99885
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Behçet Disease
Fatigue, Cataract, Abdominal pain, Weight loss, Keratoconjunctivitis sicca, Arthralgia, Myalgia, ... ORPHA:117
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Insulin-Resistance Syndrome Type B
Fatigue, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight ORPHA:2298
Q Fever
Fatigue, Night sweats, Myalgia, Weight loss ORPHA:781
Caroli Disease
Abdominal pain, Conjunctival icterus, Abdominal rigidity, Weight loss, Chills ORPHA:53035
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Kyphosis, Scoliosis ORPHA:2658
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Hemivertebrae, Failure to thrive in infancy, Kyphoscoliosis ORPHA:500150
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Amoebiasis Due To Entamoeba Histolytica
Abdominal pain, Chest pain, Weight loss ORPHA:67
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Abnormal dental enamel morphology ORPHA:85199
Pneumocystosis
Weight loss ORPHA:723
Neuroendocrine Tumor Of The Rectum
Abdominal pain, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abdominal pain, Weight loss ORPHA:100082
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive OMIM:617140
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Astigmatism, Urinary incontinence, Scoliosis OMIM:619482
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis OMIM:119600
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis, Camptodactyly ORPHA:3063
Malt Lymphoma
Fatigue, Abdominal pain, Weight loss ORPHA:52417
Erdheim-Chester Disease
Fatigue, Abdominal pain, Bone pain, Weight loss ORPHA:35687
Chronic Graft Versus Host Disease
Fasciitis, Abdominal pain, Flexion contracture, Weight loss, Keratoconjunctivitis sicca, Arthralg... ORPHA:99921
Brucellosis
Fatigue, Small for gestational age, Abdominal pain, Weight loss, Sacroiliac arthritis, Arthralgia... ORPHA:1304
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Coffin-Lowry Syndrome
Inguinal hernia, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse OMIM:303600
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
1P36 Deletion Syndrome
Cataract, Camptodactyly of finger, Kyphosis, Ocular albinism, Spinal canal stenosis, Obesity, Sco... ORPHA:1606
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Hiatus hernia OMIM:304150
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Microcornea, Ciliary body coloboma, Scoliosis, Camptodactyl... OMIM:309800
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Carney-Stratakis Syndrome
Abdominal pain, Weight loss ORPHA:97286
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Cdags Syndrome
Kyphosis OMIM:603116
Granulomatosis With Polyangiitis
Fatigue, Abdominal pain, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:900
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Hip pain, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Co... ORPHA:740
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Rieger anomaly, Small for gestational age, Kyphosis, Abnormal fo... OMIM:194190
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Sarcoidosis
Fatigue, Cataract, Scarring, Weight loss, Keratoconjunctivitis sicca, Abnormal conjunctiva morpho... ORPHA:797
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Urinary incontinence, Bowel incontinence ORPHA:171629
Addison Disease
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive ORPHA:85138
Ileal Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain, Weight loss ORPHA:100078
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Immunodeficiency 31C
Fatigue, Weight loss OMIM:614162
Pyomyositis
Myalgia, Sudden cardiac death, Weight loss ORPHA:764
Wrinkly Skin Syndrome
Inguinal hernia, Kyphosis, Scoliosis, Umbilical hernia, Failure to thrive OMIM:278250
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Abdominal pain, Impairment of activities of daily living, Weight loss ORPHA:652
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, As... ORPHA:99889
Familial Thrombocytosis
Chest pain, Weight loss ORPHA:71493
Coffin-Siris Syndrome 1
Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Astigmatism, Scoliosis... OMIM:135900
Neuroendocrine Tumor Of Stomach
Episodic abdominal pain, Weight loss ORPHA:100075
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... ORPHA:881
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Slender build, Scoliosis OMIM:300967
Primary Sclerosing Cholangitis
Fatigue, Abdominal pain, Weight loss ORPHA:171
Kikuchi-Fujimoto Disease
Fatigue, Night sweats, Weight loss, Arthralgia, Myalgia, Chills ORPHA:50918
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Pulmonary Alveolar Microlithiasis
Fatigue, Chest pain, Weight loss ORPHA:60025
Postinfectious Vasculitis
Abdominal pain, Night sweats, Weight loss, Arthralgia, Myalgia, Chills ORPHA:48435
Pancreatoblastoma
Abdominal pain, Weight loss ORPHA:677
Tropical Pancreatitis
Epigastric pain, Weight loss ORPHA:103918
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acromegaly
Fatigue, Kyphosis, Arthralgia, Spinal canal stenosis ORPHA:963
Tsh-Secreting Pituitary Adenoma
Fatigue, Weight loss ORPHA:91347
Somatomammotropinoma
Fatigue, Kyphosis, Arthralgia, Spinal canal stenosis ORPHA:314769
Cystinosis, Nephropathic
Weight loss, Failure to thrive in infancy, Recurrent corneal erosions, Corneal crystals OMIM:219800
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue, Keratoconjunctivitis sicca, Weight loss ORPHA:79078
Sotos Syndrome
Hip contracture, Inguinal hernia, Sacrococcygeal teratoma, Cataract, Ankle flexion contracture, K... ORPHA:821
Primrose Syndrome
Hip contracture, Kyphosis, Flexion contracture, Knee flexion contracture, Irregular vertebral end... OMIM:259050
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
African Trypanosomiasis
Fatigue, Rigors, Urinary incontinence, Keratitis, Weight loss, Arthralgia, Conjunctivitis, Iritis ORPHA:3385
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Abdominal pain, Weight loss OMIM:301074
Igg4-Related Kidney Disease
Fatigue, Abdominal pain, Weight loss ORPHA:449395
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis, Lis... ORPHA:97685
Viss Syndrome
Inguinal hernia, Kyphosis, Scoliosis, Umbilical hernia, Failure to thrive, Contracture of the pro... OMIM:619472
Primary Fanconi Renotubular Syndrome
Bone pain, Weight loss ORPHA:3337
Sarcoidosis, Susceptibility To, 1
Chest pain, Weight loss OMIM:181000
Goodpasture Syndrome
Fatigue, Chills, Chest pain, Weight loss OMIM:233450
Yunis-Varon Syndrome
Cataract, Small for gestational age, Anterior concavity of thoracic vertebrae, Sclerocornea, Fail... OMIM:216340
Alström Syndrome
Thoracic scoliosis, Cataract, Dorsocervical fat pad, Urinary incontinence, Kyphosis, Posterior su... ORPHA:64
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Immunodeficiency 82 With Systemic Inflammation
Abdominal pain, Weight loss OMIM:619381
Choreoacanthocytosis
Weight loss ORPHA:2388

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 Sprtn

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 Sprtn.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Sprtntm289808(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter