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Gene: Wdr37 MGI:1920393

Gene Summary

Name:

WD repeat domain 37

Synonyms:

4933417A01Rik, 3110035P10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
kyphosis	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.53×10^-06
increased circulating insulin level	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.95×10^-08
increased bone mineral content	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.41×10^-05
abnormal spine curvature	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.04×10^-05
decreased leukocyte cell number	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.56×10^-06
vertebral fusion	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.92×10^-05
increased circulating alkaline phosphatase level	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.59×10^-05
fusion of vertebral arches	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.67×10^-07
increased circulating calcium level	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.80×10^-06
decreased grip strength	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.79×10^-06

Download data as: TSV XLS

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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.

Histopathology

Images

6 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Legacy Phenotype Associated Images

Wdr37^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Wdr37^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Wdr37^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

View all 60 images

Wdr37^{tm1a(KOMP)Wtsi}
abnormal epidermis stratum basale morphology, HOM, Female, WTSI

Wdr37^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Wdr37 mutations

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

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

Human diseases associated with Wdr37 (1 diseases)
Human diseases predicted to be associated with Wdr37 (705 diseases)

The table below shows human diseases associated to Wdr37 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurooculocardiogenitourinary Syndrome			OMIM:618652

The table below shows human diseases predicted to be associated to Wdr37 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulna Metaphyseal Dysplasia Syndrome	Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia	OMIM:191420
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Delayed ...	OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Parastremmatic Dwarfism	Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Bethlem Myopathy 2	Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxity, Flexion contra...	OMIM:616471
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora...	ORPHA:1436
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb...	OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spin...	OMIM:615883
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Glucose intolerance, Scoliosis, Thoracic hemiv...	OMIM:309620
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Bone pain, O...	OMIM:602080
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor...	OMIM:606612
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor...	OMIM:277950
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Decreased response to growth hormone stimulation test, Hypercalcemia, Craniosynostosi...	OMIM:614732
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par...	OMIM:617994
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Thoracic kyphosis, Hypocalcemia, Scoli...	ORPHA:557003
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul...	ORPHA:94086
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Vertebral clefting, Increased sus...	OMIM:241500
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o...	ORPHA:97289
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recur...	ORPHA:93160
Infantile Myofibromatosis	Hypercalcemia, Abnormal sacrum morphology, Limitation of joint mobility, Bone cyst, Osteolysis, C...	ORPHA:2591
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Fibrous Dysplasia Of Bone	Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervic...	ORPHA:249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Genu ...	OMIM:619073
Hypophosphatasia	Anemia, Recurrent fractures, Hypercalcemia, Craniosynostosis	ORPHA:436
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:66637
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Bone pain, Parathyroid hyperplasia, Elevated circula...	OMIM:612089
Oculoskeletodental Syndrome	Hypercalcemia, Splenomegaly, Delayed skeletal maturation, Elbow flexion contracture, Thoracic kyp...	OMIM:618440
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Increased serum serotonin, Congenital bilateral hip dislocation	ORPHA:85288
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost...	OMIM:178110
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ...	ORPHA:2345
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Type I diab...	ORPHA:276580
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic...	ORPHA:276575
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Hyperinsuli...	ORPHA:3085
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ...	OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar...	ORPHA:199299
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn...	ORPHA:93315
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta...	ORPHA:66628
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Delayed skeletal maturation, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta...	ORPHA:179494
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T...	ORPHA:2332
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Diabetes insipidus, Scoliosis	ORPHA:1445
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level	OMIM:143880
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral wedging, Scoliosis	ORPHA:377
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Congenital Muscular Dystrophy, Ullrich Type	Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Flexio...	ORPHA:75840
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevat...	OMIM:239200
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain...	ORPHA:29073
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ach...	OMIM:615290
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ...	ORPHA:71526
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Cortical thickening of long bone dia...	ORPHA:93324
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypoparathyroidism, Hypercalcemia, Knee flexion contracture, Hypopho...	OMIM:156400
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Pseudohypoparathyroidism, Type Ic	Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh...	OMIM:612462
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope...	OMIM:259700
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Verheij Syndrome	Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis	OMIM:615583
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Bone pain, Hypermagnesemia, Hypophospha...	OMIM:600740
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr...	ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ...	ORPHA:280356
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Hypogonadism, Joint hyperflexibility	ORPHA:1875
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr...	OMIM:145001
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:619040
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy...	OMIM:612526
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hem...	ORPHA:251004
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasti...	ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigi...	OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hip dislocation, Scoliosis	OMIM:300434
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia	OMIM:239199
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ...	ORPHA:79445
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Delayed skeletal...	OMIM:615363
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Abnormal circulating creatine kinase concentration...	OMIM:618484
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Paraganglioma	ORPHA:94080
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t...	OMIM:600081
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck	OMIM:118100
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification...	OMIM:264700
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos...	ORPHA:785
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b...	ORPHA:2771
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu v...	OMIM:252605
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture	ORPHA:85193
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis, Delayed puberty	ORPHA:2598
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Bone pain, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth a...	ORPHA:89937
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Delayed epiphyse...	ORPHA:289157
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:95409
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ...	ORPHA:915
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis	OMIM:616756
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Kyphosis, Osteoporosis, Sco...	ORPHA:48431
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Accelerated skeletal matu...	ORPHA:528
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Hypercalcemia, Scoliosis	ORPHA:476126
Sandhoff Disease	Splenomegaly, Kyphosis	ORPHA:796
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes...	OMIM:244460
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Delayed skeletal maturation, Scoliosis, Joint stiffness	ORPHA:1548
Alpha-Mannosidosis	Craniofacial hyperostosis, Short neck, Kyphosis, Delayed skeletal maturation, Splenomegaly, Arthr...	ORPHA:61
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Accelerated skeletal maturation	ORPHA:1354
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl...	OMIM:156530
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes, Cervical spinal canal s...	OMIM:301900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia, Flexion cont...	OMIM:248370
Weismann-Netter Syndrome	Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Fetal Akinesia Deformation Sequence 4	Kyphosis, Arthrogryposis multiplex congenita, Camptodactyly, Short neck	OMIM:618393
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Thyro...	ORPHA:653
Caudal Regression Syndrome	Maternal diabetes, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodie...	ORPHA:3027
Hall-Riggs Syndrome	Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly...	OMIM:234250
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae	OMIM:230650
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gluco...	OMIM:608612
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture, Elevated circulating creatine kinase concentration	OMIM:618138
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Frontometaphyseal Dysplasia 1	Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl...	OMIM:305620
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
2P21 Microdeletion Syndrome	Hypogonadism, Hypoglycemia, Hypocalcemia	ORPHA:163693
Monosomy 13Q34	Insulin resistance, Osteochondrosis, Hypercalcemia	ORPHA:96168
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Bone pain, Increased susceptibility to fractures, Hypocalcemia, H...	ORPHA:352540
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:272460
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc...	OMIM:130720
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H...	ORPHA:36913
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo...	OMIM:618000
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec...	ORPHA:96169
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145980
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased lev...	ORPHA:79237
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General...	ORPHA:93360
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Flynn-Aird Syndrome	Joint stiffness, Abnormality of the thyroid gland, Kyphosis, Bone cyst, Primary adrenal insuffici...	ORPHA:2047
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory...	OMIM:150250
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Kyphoscoliosis, L...	OMIM:300280
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol...	ORPHA:99880
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abn...	ORPHA:3344
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis...	ORPHA:77259
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	OMIM:615084
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Diabetes mellitus, Kyphosis, Insulin resistance, Osteoporosis, Scoliosis, M...	OMIM:615381
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio...	OMIM:254090
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:363400
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th...	OMIM:177170
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Asymme...	OMIM:171480
Parathyroid Carcinoma	Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol...	ORPHA:143
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Type II diabetes mellitus, Scoliosis, Abnormal circulating lipid concentrat...	ORPHA:3191
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Chondrocalcinosis, Hypocalc...	ORPHA:405
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density	ORPHA:2617
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:178148
Shashi-Pena Syndrome	Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 ...	OMIM:617190
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract...	ORPHA:93314
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:85317
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture	OMIM:618237
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:276621
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97283
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck	OMIM:611890
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaki...	ORPHA:137834
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Arthritis, Hypocalcemia, ...	ORPHA:47
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture	OMIM:618658
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi...	ORPHA:98855
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis	ORPHA:79327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:29072
Diastrophic Dysplasia	Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Elbo...	ORPHA:628
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp...	ORPHA:247353
Sialidosis Type 2	Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hip dislocation, Scoliosis, J...	OMIM:610443
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Ring Chromosome 10 Syndrome	Hypocalcemia, Short neck	ORPHA:1438
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Short neck, ...	ORPHA:98863
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed...	OMIM:610968
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r...	ORPHA:171436
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH...	OMIM:219090
Pseudohypoparathyroidism, Type Ia	Short neck, Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Subcutaneous ossification,...	OMIM:103580
Glucagonoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos...	ORPHA:97280
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Short neck, Kyphosis, Limitation of joint mobility, Abnormality of the e...	ORPHA:3098
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis...	OMIM:219080
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Hypogonadism, Spina bifida occulta	ORPHA:2983
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Shoulder dislocation, Scoliosis, Joint hyperflexibility	ORPHA:2181
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ...	OMIM:609128
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	ORPHA:352447
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Marinesco-Sjogren Syndrome	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Kyphosis, Fle...	OMIM:248800
Ppoma	Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan...	ORPHA:97278
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Accelerated skeletal maturation, Insulin-resistant diabetes mellitus, Insul...	ORPHA:79086
Sanjad-Sakati Syndrome	Hypoparathyroidism, Patchy osteosclerosis, Delayed skeletal maturation, Spinal canal stenosis, Hy...	ORPHA:2323
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ...	ORPHA:352490
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Donohue Syndrome	Precocious puberty, Delayed skeletal maturation, Hyperinsulinemia, Pancreatic islet-cell hyperpla...	OMIM:246200
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi...	ORPHA:261
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short neck, Fused cervical vertebrae, Neut...	OMIM:609053
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi...	ORPHA:98853
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy...	OMIM:253000
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Grfoma	Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma...	ORPHA:97261
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Delayed closure o...	OMIM:127000
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio...	ORPHA:3320
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral ...	OMIM:109400
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth...	OMIM:606407
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis, Hypothyroidism	OMIM:617796
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis	ORPHA:1545
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Atelis Syndrome 2	Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Hypogonadism, F...	ORPHA:3409
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Hyperthyroidism, Autoimmune thrombocytopenia, Abnorma...	ORPHA:37042
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc...	ORPHA:90652
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Decreased response to g...	OMIM:213980
Mpi-Cdg	Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec...	ORPHA:175
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bo...	ORPHA:904
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis	OMIM:300602
Ruvalcaba Syndrome	Kyphosis, Limited elbow extension, Scoliosis, Delayed puberty	OMIM:180870
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Delayed skeletal maturat...	ORPHA:769
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Iron deficiency anemia, Hypocalcemia, Dela...	OMIM:212750
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphosis, Flexion contrac...	OMIM:618291
Lopes-Maciel-Rodan Syndrome	Ankle clonus, Kyphosis, Scoliosis	OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost...	OMIM:251450
Mucopolysaccharidosis Type 4	Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Spinal canal...	ORPHA:582
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ...	OMIM:268310
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia	OMIM:602361
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuerm...	OMIM:108300
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia, Butterfly vertebrae	OMIM:607143
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:614409
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ...	ORPHA:36234
Arthrogryposis, Distal, Type 5	Limited wrist extension, Kyphosis, Distal arthrogryposis, Scoliosis, Congenital finger flexion co...	OMIM:108145
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Hydroxyprolinemia, Ank...	OMIM:239000
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Hypoglycemia, Delayed skeletal maturati...	OMIM:613658
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hemivertebrae, Bu...	OMIM:206900
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Type 1 coll...	OMIM:610915
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Knee...	OMIM:620351
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Timothy Syndrome	Hypothyroidism, Hypocalcemia, Hypoglycemia	OMIM:601005
Pycnodysostosis	Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Decreased seru...	ORPHA:763
Sarcoidosis	Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Eosinophilia, Thrombocytope...	ORPHA:797
Solitary Fibrous Tumor	Low back pain, Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic ri...	ORPHA:2126
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In...	ORPHA:79474
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio...	OMIM:616294
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Short neck, Splenomegaly, Hypocalcemia, Hypoproteinemia	OMIM:235255
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ...	ORPHA:3464
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr...	ORPHA:324737
Schaaf-Yang Syndrome	Kyphosis, Flexion contracture, Hypogonadism, Scoliosis, Camptodactyly, Arthrogryposis multiplex c...	OMIM:615547
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Kyphosis, Osteoporosis, Scoliosi...	OMIM:619718
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Accelerated skeletal maturation, Kyphosis, Pit...	OMIM:300942
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Congenital foot contractures, Scoliosis, Ca...	OMIM:314580
Achondroplasia	Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Flat acetabular r...	ORPHA:15
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Hypogonadotropic hypogonadism, Flat acetabular roof	OMIM:617159
Sotos Syndrome	Joint laxity, Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture,...	ORPHA:821
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra...	OMIM:230500
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo...	ORPHA:2655
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Hip disl...	OMIM:301041
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ...	ORPHA:2311
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia, Delayed cranial suture closure	OMIM:616260
Ruvalcaba Syndrome	Kyphosis, Abnormality of the elbow, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morp...	ORPHA:3121
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Hypoglycemia, Camptodactyly of finger, Short neck, ...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Diabetes mellitus, Hypercalcemia, Kyphoscoliosis, Flexion contracture, ...	OMIM:194050
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Hepatosplenomegaly	OMIM:608776
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Kyphosis, Joint hyperflexibility, Scoliosis, Hypercholesterolemia, Hypothyroidism, Ge...	ORPHA:2479
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defe...	ORPHA:1005
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum lepti...	OMIM:269700
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Anemia, Cortical thickening of long ...	ORPHA:93325
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Acc...	OMIM:608594
Fountain Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi...	ORPHA:3219
Duane Retraction Syndrome	Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ...	ORPHA:233
Sialidosis Type 1	Splenomegaly, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Scoli...	ORPHA:812
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Congenital hip dislocation, Splenomegaly, Hypokalemia, Hypo...	OMIM:617913
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect, Radial club hand	ORPHA:959
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Limitation of joint mobility, Joint hyperflexibility	ORPHA:93274
19P13.12 Microdeletion Syndrome	Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Scoliosis, Arthrogryp...	ORPHA:254346
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Hyperuricemia	ORPHA:261222
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Kyphosis, Hypogonadism, Delayed puberty	OMIM:300354
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypocalcemia	ORPHA:1563
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis, Short neck, K...	ORPHA:1798
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver...	ORPHA:508533
Marfanoid Habitus With Situs Inversus	Kyphosis, Genu recurvatum, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Accelerated skeletal maturation, Hypopl...	OMIM:253220
Gitelman Syndrome	Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia, Graves disease, Gout, Ir...	ORPHA:358
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi...	OMIM:607015
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal...	ORPHA:2789
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Aicardi Syndrome	Block vertebrae, Precocious puberty, Scoliosis, Delayed puberty, Butterfly vertebrae	ORPHA:50
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Genu valgum	ORPHA:583
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Precocious puberty, Kyphosis, Delayed skeletal...	OMIM:194190
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy...	OMIM:618019
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Phalangea...	ORPHA:536532
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p...	OMIM:139210
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Kyphosis, Increas...	ORPHA:2232
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
3M Syndrome	Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Dela...	ORPHA:2616
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco...	ORPHA:2050
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt...	ORPHA:2785
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, Coronal cleft ve...	OMIM:108720
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Hyperextensible hand joints, Camptodactyly	OMIM:227330
Aicardi Syndrome	Block vertebrae, Precocious puberty, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:304050
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Decreased response to growt...	ORPHA:699
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility...	OMIM:259770
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation...	ORPHA:508498
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Joint hypermobility, Kyphosis, Scoliosis, Leukemia, Bicoronal synostosis	OMIM:619951
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat...	OMIM:101200
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis, Decreased serum testosterone ...	ORPHA:97360
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis	OMIM:607323
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Marden-Walker Syndrome	Short neck, Kyphosis, Congenital contracture, Radioulnar synostosis, Scoliosis, Camptodactyly, Jo...	OMIM:248700
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High urinary gonadotropin level, Short neck, Kyphosis, Delayed skeletal maturation, I...	ORPHA:99413
Turner Syndrome	Osteopenia, High urinary gonadotropin level, Short neck, Kyphosis, Delayed skeletal maturation, I...	ORPHA:881
Mosaic Monosomy X	Osteopenia, High urinary gonadotropin level, Short neck, Kyphosis, Delayed skeletal maturation, I...	ORPHA:99228
Monosomy X	Osteopenia, High urinary gonadotropin level, Short neck, Kyphosis, Delayed skeletal maturation, I...	ORPHA:99226
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
15Q24 Microdeletion Syndrome	Joint laxity, Kyphosis, Decreased response to growth hormone stimulation test, Scoliosis	ORPHA:94065
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios...	OMIM:617137
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Abnormal form of...	ORPHA:354
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduced bone mineral density, Hyp...	ORPHA:667
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Bone pain, Limitation of join...	ORPHA:1328
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:544482
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis, Joint stiffness	ORPHA:702
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,...	ORPHA:1855
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Hurler Syndrome	Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, S...	OMIM:607014
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In...	ORPHA:508
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Short neck, Wrist flexion contracture, Abnorm...	ORPHA:800
Trisomy 20P	Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon...	ORPHA:261318
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calciton...	OMIM:162300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Thrombocytopenia, Leukocytosis, Patellar aplasia, Hip dislocation, Hepatosplenomega...	OMIM:274000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Knee flexion contracture	OMIM:603387
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os...	OMIM:309000
Double Outlet Right Ventricle	Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates...	OMIM:271700
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:261144
Cowden Syndrome 1	Hyperthyroidism, Kyphosis, Thyroiditis, Scoliosis, Thyroid adenoma, Lymphopenia, Hypothyroidism, ...	OMIM:158350
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion	ORPHA:87
Cowden Syndrome 5	Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter	OMIM:615108
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Kyphosis, Genu recurvatum, Scoliosis	ORPHA:364028
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentrat...	OMIM:304150
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Harrod Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2115
Cockayne Syndrome Type 2	Kyphosis, Male hypogonadism, Flexion contracture, Scoliosis	ORPHA:90322
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Abnormal circulating creatine kinase ...	ORPHA:2215
3C Syndrome	Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scoliosis	ORPHA:7
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Scoliosis, Butterfly vertebrae	ORPHA:958
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Hypogonadism, Scoliosis, C...	ORPHA:85293
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Jaberi-Elahi Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness	OMIM:617988
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Splenomegaly	OMIM:616368
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis	OMIM:618443
Cowden Syndrome 6	Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter	OMIM:615109
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Hip dislocation, S...	ORPHA:140
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypoc...	OMIM:212065
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc...	OMIM:618493
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of...	OMIM:157800
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Precocious puberty, Kyphosis, Flexion contracture, Osteoporosis, ...	ORPHA:398069
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Joint stiffness	ORPHA:1860
Noonan Syndrome 14	Short neck, Kyphosis, Cubitus valgus, Lymphopenia, Limited elbow extension	OMIM:619745
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Kyphosis, Scoliosis, Joint contracture	OMIM:609029
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Short neck, Splenomegaly, Multiple suture craniosynostosis, ...	ORPHA:567
Fucosidosis	Kyphosis, Hypothyroidism, Anterior beaking of lumbar vertebrae	ORPHA:349
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia	ORPHA:2136
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Trisomy 13	Kyphosis, Scoliosis	ORPHA:3378
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Polysplenia	OMIM:306955
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Scoliosis	ORPHA:88644
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenome...	ORPHA:955
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocy...	OMIM:188400
Micro Syndrome	Kyphosis, Delayed puberty, Scoliosis, Joint stiffness	ORPHA:2510
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Distal Triplication 15Q	Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly	ORPHA:314588
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral ...	ORPHA:192
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Kyphosis, Delayed skeletal maturation, Limitation of joint mobili...	ORPHA:2658
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Cleft v...	ORPHA:83617
Cohen Syndrome	Kyphosis, Genu valgum, Joint hyperflexibility, Scoliosis, Neutropenia, Cubitus valgus, Delayed pu...	ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Scoliosis	OMIM:617061
Alexander Disease	Osteopenia, Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Scoliosis...	ORPHA:58
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Delay...	OMIM:603116
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis, Brain abscess	OMIM:616482
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Hyponatremia, Osteomalacia, Joint hyperflexibility, Hypokalem...	ORPHA:534
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Hip subluxation, Scoliosis	OMIM:619557
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr...	ORPHA:79329
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Scoliosis	OMIM:211530
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Spl...	ORPHA:576
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hyperextensibility of the finger joints, Sacral dimple, Hip contracture, Hemolytic ...	OMIM:619503
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Kyphosis, Osteopor...	ORPHA:198
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
16Q24.3 Microdeletion Syndrome	Kyphosis, Thrombocytopenia, Increased mean corpuscular volume, Scoliosis	ORPHA:261250
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Tracheobronchomalacia	OMIM:309900
Poland Syndrome	Diabetes mellitus, Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduced bone minera...	ORPHA:2911
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Camptodactyly of finger, Short neck, Kyphosis, Delayed skeletal maturati...	ORPHA:251014
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Frank-Ter Haar Syndrome	Osteopenia, Cortical irregularity, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyph...	OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, S...	OMIM:300966
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Normochromic anem...	OMIM:615512
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Decreased response to growth hormone stimulation test, Hypothyroidism, Tracheomala...	ORPHA:444077
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, T lymphocytopenia, Coo...	ORPHA:83471
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Camptodactyly	OMIM:617602
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis	OMIM:218330
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Hypogonadism, Scoliosis	ORPHA:500055
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Hypogonadism, Patellar dislocation, S...	ORPHA:261349
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Kyphoscolio...	ORPHA:79318
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Weaver Syndrome	Dysharmonic bone age, Accelerated skeletal maturation, Kyphosis, Scoliosis, Camptodactyly, Limite...	OMIM:277590
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Camptodactyly	OMIM:619123
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Scoliosis	OMIM:616449
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach...	OMIM:613458
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Aspartylglucosaminuria	Joint laxity, Kyphosis, Delayed skeletal maturation, Vacuolated lymphocytes, Platyspondyly, Spond...	OMIM:208400
Classic Homocystinuria	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia	OMIM:192430
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia, Knee flexion contracture	OMIM:619708
Marshall-Smith Syndrome	Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu...	OMIM:602535
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Craniosynostosis, Hyperextensibility of the finger joints	OMIM:616914
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Increased bone mineral density, Kyphosis, Hip dislocation, I...	OMIM:119600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Kyphosis, Delayed skeletal maturation, Coronal craniosynostosis, Delayed crani...	ORPHA:85199
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Thrombocytopenia, Kyphosis, Decreased hemoglobin concentration, Scoliosis	OMIM:619005
Monosomy 9Q22.3	Accelerated skeletal maturation, Short neck, Kyphosis, Joint hyperflexibility, Abnormality of the...	ORPHA:77301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Congenital hypothyroidism, Contractures of the large joints	OMIM:617527
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Metop...	ORPHA:457359
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Adrenal calcification, Abnormal calcification of the carpa...	ORPHA:51608
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglyce...	ORPHA:2968
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Hyperextensibility of the finger joints, Contractures of the large joints	ORPHA:521426
Stickler Syndrome	Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi...	ORPHA:828
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Joint laxity, Sacral dimple, Decreased response to growth hormone stimulation ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Joint laxity, Sacral dimple, Decreased response to growth hormone stimulation ...	ORPHA:363958
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis, Vertebral segmen...	ORPHA:1507
Marden-Walker Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the vertebral bodies, Radiou...	ORPHA:2461
X-Linked Intellectual Disability, Snyder Type	Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly, Testicular atrophy	ORPHA:3063
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly	OMIM:616894
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Accelerated skeletal m...	ORPHA:64
Basel-Vanagaite-Smirin-Yosef Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis	ORPHA:464738
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Genu ...	OMIM:619194
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated...	OMIM:259050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Kyphosis, Posterior pituitary hypoplasia, Scoliosis, Flexion contractu...	ORPHA:464311
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Kyphosis, Precocious p...	ORPHA:636
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Kyphosis, Osteopor...	ORPHA:558
Wolf-Hirschhorn Syndrome	Sacral dimple, Kyphosis, Delayed skeletal maturation, Osteoporosis, Abnormal form of the vertebra...	ORPHA:280
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant...	OMIM:300106
Cowden Syndrome	Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Bone cyst, Scoliosis, N...	ORPHA:201
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Hypocalcemia, Short neck	OMIM:620330
17Q11 Microdeletion Syndrome	Osteopenia, Precocious puberty, Kyphosis, Thickened cortex of long bones, Osteoporosis, Osteolysi...	ORPHA:97685
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Mend Syndrome	Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Sacral dimple	ORPHA:401973
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:963
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Kyphosis, Scoliosis, Abnormality of t...	ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Kyphoscoliosis, Kyphosis, Pineal cyst, Scoliosis, Synostosis of the proximal phalan...	OMIM:300967
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Joint hypermobility	OMIM:617140
Cockayne Syndrome A	Hip contracture, Kyphosis, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha...	OMIM:216400
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Craniofacial Microsomia 1	Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia	OMIM:164210
Cockayne Syndrome	Diabetes mellitus, Kyphosis, Splenomegaly, Absence of pubertal development, Contractures of the l...	ORPHA:191
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbiliru...	OMIM:243800
Cockayne Syndrome B	Splenomegaly, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalan...	OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis	ORPHA:171629
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies, Elevated circulatin...	ORPHA:818
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Osteomyelitis, Kyphosis, Abnormal curvature of the vertebral column, Gen...	OMIM:619475
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Decreased response to growth hormone stimulation test, Premature thelarche, Abnorm...	ORPHA:268261
Proteus Syndrome	Thymus hyperplasia, Craniosynostosis, Joint stiffness, Neoplasm of the thymus, Kyphosis, Splenome...	ORPHA:744
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an...	OMIM:278250
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Cockayne Syndrome Type 3	Splenomegaly, Kyphosis, Flexion contracture, Scoliosis	ORPHA:90324
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis	ORPHA:1393
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Spinal canal steno...	ORPHA:1606
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Delayed closure of the anterior fontanelle, Kyphosis, De...	OMIM:303600
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Aplasia/Hypoplasia of the patella, Kyphosis, Delayed skeletal matura...	OMIM:135900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, Platyspondyly, Abnormality of the...	ORPHA:2273
Viss Syndrome	Joint laxity, Recurrent joint dislocation, Joint hypermobility, Kyphosis, Generalized joint laxit...	OMIM:619472
Branchiooculofacial Syndrome	Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles, Ec...	OMIM:113620
Yunis-Varon Syndrome	Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Anterior concavity...	OMIM:216340
Neurooculocardiogenitourinary Syndrome		OMIM:618652

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.

Phenotype	Allele	Zygosity	Life Stage
Bone marrow - hyperplasia	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult
Spleen - MPATH diagnostic term extramedullary hemopoiesis	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult
Spleen - hyperplasia	Wdr37^{tm1a(KOMP)Wtsi}	HOM	Early adult

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 Wdr37.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Wdr37^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Wdr37^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Wdr37^{tm1a(KOMP)Wtsi}	PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Wdr37^{tm1a(KOMP)Wtsi}	PMC5676932
Blood Transcriptional Signatures for Disease Progression in a Rat Model of Osteoarthritis.	International journal of genomics (July 2017)	Wdr37^{tm1a(KOMP)Wtsi}	PMC5512050
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Wdr37^{tm1a(KOMP)Wtsi}	PMC3996542

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
Wdr37^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wdr37 MGI:1920393

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

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Legacy Phenotype Associated Images

Human diseases caused by Wdr37 mutations

Histopathology

IMPC related publications

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