Gene Summary

Name:
SET domain containing 3
Synonyms:
D12Ertd771e,  2610305M23Rik,  2610102I01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
small testis Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
hydrometra Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
vertebral fusion Setd3tm1.1(NCOM)Mfgc HOM   Early adult 6.83×10-07
hyperactivity Setd3tm1.1(NCOM)Mfgc HOM Early adult 2.76×10-06
decreased body length Setd3tm1.1(NCOM)Mfgc HOM Early adult 2.35×10-05
increased lymphocyte cell number Setd3tm1.1(NCOM)Mfgc HOM Early adult 7.38×10-05
abnormal seminal vesicle morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
decreased prepulse inhibition Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.18×10-10
abnormal pancreas morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
shortened QT interval Setd3tm1.1(NCOM)Mfgc HOM   Early adult 8.50×10-05
increased bone mineral content Setd3tm1.1(NCOM)Mfgc HOM Early adult 3.20×10-06
increased bone mineral density Setd3tm1.1(NCOM)Mfgc HOM Early adult 9.76×10-07
short tibia Setd3tm1.1(NCOM)Mfgc HOM Early adult 6.67×10-10
increased leukocyte cell number Setd3tm1.1(NCOM)Mfgc HOM   Early adult 5.47×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Histopathology

Images

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Gross Pathology and Tissue Collection

Images

7 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Human diseases caused by Setd3 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.

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

The table below shows human diseases predicted to be associated to Setd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mueller-Weiss Syndrome
Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Avascular necrosis, Sclerosi... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Avascular necrosis, Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint ... ORPHA:564003
Dysplasia Of Head Of Femur, Meyer Type
Flattened femoral head, Multicentric femoral head ossification, Leukocytosis, Lower limb pain, Co... ORPHA:168621
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Fibular Hemimelia
Craniosynostosis, Structural foot deformity, Talipes equinovalgus, Arthralgia of the hip, Thrombo... ORPHA:93323
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormality of the endocrine system, Abnormal bone ossification,... ORPHA:166119
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Diastrophic Dysplasia
Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of finger, Abnorma... ORPHA:628
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Delayed cranial sut... OMIM:113000
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Osteomesopyknosis
Infertility, Low back pain, Increased bone mineral density OMIM:166450
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... ORPHA:2790
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Bone pain, Thyroid carcinoma, Pancreatitis, Parathyroi... ORPHA:99880
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Abnormality of the vertebral column, Increased bone mineral density, Diabet... OMIM:602475
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Bone pain, Thyroid carcinoma, Pancreatitis, Parathyroi... ORPHA:143
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Small hand, Abnormal vertebral segmentation and ... ORPHA:915
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Impotence, Thymoma, Melena, Int... ORPHA:652
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia, Micrognathia, Clinodactyly, Radial deviation of finger, Delayed skelet... OMIM:608747
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Hype... ORPHA:1879
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, ... ORPHA:2204
Tibial Hemimelia
Radial club hand, Hemivertebrae, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equi... ORPHA:93322
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Hypospadias, Sudden cardiac death, Dilated cardiomyopathy, Nonc... OMIM:610198
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Schnitzler Syndrome
Bone pain, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Vasculitis, ... ORPHA:37748
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... OMIM:136300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Mandibular osteomyelitis, Osteomye... ORPHA:53
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Micropenis, Hypoplasia of the radius, Hypospadias, Shor... OMIM:607143
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Abnormal bone ossification, Slender finger, Increased bone... ORPHA:163649
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral fusion, Brachydactyly, Sc... ORPHA:377
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Slc35A2-Cdg
Precocious puberty, Talipes equinovarus, Craniosynostosis, Osteopenia, Short tibia, Aplasia/hypop... ORPHA:356961
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Kbg Syndrome
Vertebral fusion, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Thoracic kyph... ORPHA:2332
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... ORPHA:485
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Gaucher Disease Type 1
Hepatomegaly, Osteopenia, Osteolysis, Pedal edema, Pancytopenia, Delayed skeletal maturation, Inc... ORPHA:77259
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Clinodactyl... ORPHA:1445
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Lower limb asymmetry, Hyperostosis, E... ORPHA:2485
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... OMIM:614856
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone m... OMIM:259700
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Micrognathia, Micromelia, Limb undergrowth, Generalized osteoscl... ORPHA:1423
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Prolonged QTc interval, Sandal gap, Increased QRS voltag... OMIM:619040
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... OMIM:601559
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regurgitation, Scoliosis, T... ORPHA:313892
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Short ribs, Micrognathia,... OMIM:215045
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Kyphosis, Abnor... ORPHA:3344
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Craniof... OMIM:122860
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Missing ribs, Block vertebrae... OMIM:613686
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Brachydact... ORPHA:2916
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Vertebral fusion OMIM:221950
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation, Clinodactyly of the 5th... ORPHA:1106
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... ORPHA:1306
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Andersen-Tawil Syndrome
Bidirectional ventricular ectopy, Prolonged QT interval, Torsade de pointes, Abnormal T-wave, Mic... ORPHA:37553
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... ORPHA:1988
Andersen Cardiodysrhythmic Periodic Paralysis
Bidirectional ventricular ectopy, Small finger, Delayed skeletal maturation, Prolonged QT interva... OMIM:170390
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... OMIM:268310
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Pycnodysostosis
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Micrognathia, Scoliosis, Hyperlord... ORPHA:763
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... OMIM:618469
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... OMIM:231095
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... OMIM:605274
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth hormone stimul... ORPHA:94089
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... OMIM:606612
Neonatal Lupus Erythematosus
Abnormality of the liver, Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Arrhythmia, H... ORPHA:398124
Verheij Syndrome
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Type II diabetes mellitus, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phala... ORPHA:1436
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Delayed closure of the anterior fon... OMIM:224300
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral neck, Wormian bones, Thin... ORPHA:85184
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Clitoral hypoplasia, Hypoplasia of the ul... OMIM:609945
Werner Syndrome
Telangiectasia of the skin, Joint stiffness, Type II diabetes mellitus, Ovarian neoplasm, Thyroid... ORPHA:902
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Polyarticular arthritis, Sclerotic vertebral endplates, Enthesitis, Rickets of ... ORPHA:289176
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytos... ORPHA:77297
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morpholog... ORPHA:3027
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Abnormality of the vertebral column, Generalized osteosclerosis, Calvarial osteosc... OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Short neck... OMIM:251230
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Hyperactivity, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Erectile dysfunction, Joint swelling, Joint... ORPHA:465508
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Hepatomegaly, Micrognathia, ... ORPHA:2849
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Micromelia, Platyspondyly, Genu valgum, Abnormal epiph... ORPHA:800
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Atelosteogenesis Type Iii
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Talipes equi... ORPHA:56305
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Decreased response to growth hormone stimulation test, Reduced circulatin... ORPHA:79444
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Micrognathia, Short neck, Biconcave vertebral bodies, Scoliosi... OMIM:130720
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Missing ribs, Vertebral... OMIM:122600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Chromosome 8Q22.1 Duplication Syndrome
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Limitation of joint mobility... OMIM:151200
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Elbow ankylosis, Symphalangism affecting the phalanges of the hand, ... ORPHA:2658
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Poems Syndrome
Abnormality of the endocrine system, Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal... ORPHA:2905
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Hypospadias, Micrognath... ORPHA:2522
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, External genital hypoplasia, Hepatoblastoma, Absent g... ORPHA:96334
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Flared iliac wing, Preaxial polydactyly, Hypos... ORPHA:90652
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Accelerated skeletal maturation, Flexion contracture, Splenomegal... OMIM:613327
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Aarskog-Scott Syndrome
Testicular atrophy, Short neck, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testoste... OMIM:305400
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Partial fusion of tarsals,... OMIM:305620
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Abnormal left ventricular function, Thigh hypertrophy, Calf muscle hypertrophy, Scolios... OMIM:607155
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Accelerated skeletal maturation, Hepatoblastoma, Congenital hip dislocation, Short ... ORPHA:373
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... OMIM:606842
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Short ribs, Micropenis, Pancreatic fibrosis, Platyspondyly, Brachydactyl... OMIM:263520
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Micropenis, Short ribs, Uterus didelphys, Decreased calvarial ossif... OMIM:617925
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Increased bone mineral density, Autoimmune hypoparathyroidism... ORPHA:36913
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Scler... OMIM:611490
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... ORPHA:166016
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Short ribs, Supernumerary vertebrae, Hemivertebrae, ... OMIM:271520
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Hypogonadism, Anemia, Delayed skeletal maturation OMIM:618165
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... ORPHA:3130
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Extramedullary hematopoiesis, Hepatosple... OMIM:612840
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... OMIM:312150
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Hyperactivity, Micropenis, Small hand, Hypospadias, Pes cavus, Brachydactyly, Pes planu... OMIM:300354
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Kbg Syndrome
Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Vertebral fusion, Cutaneous sy... OMIM:148050
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Micrognat... ORPHA:2780
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... ORPHA:1798
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Atelosteogenesis Type I
Talipes equinovarus, Joint dislocation, Abnormal ossification involving the femoral head and neck... ORPHA:1190
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Arachnodactyly, Hypospadias, Scoliosis, Hypothyroidism, ... ORPHA:96169
Spondylocarpotarsal Synostosis Syndrome
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Epiphyse... OMIM:272460
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Hyperactivity, Joint contracture of the hand, Micrognathia, Scoliosis, Joint contractur... ORPHA:352490
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Hypothyroid... ORPHA:90065
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... OMIM:253290
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Hyperactivity, Accelerated skeletal maturation, Hypospadias, Cone-shaped e... OMIM:614613
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly, Amelia, Decreased skull ossificat... OMIM:601163
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Hyperactivity, Pulmonic st... OMIM:610443
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Delayed skeletal maturation, Inc... ORPHA:432
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Congenital hypoparathyroidism,... OMIM:241410
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Decreased osteoclast count, Splenomegaly, Osteopetr... OMIM:259720
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Hypothyroidism, Prolonged QT interval, Bradycardia OMIM:601005
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Short ribs, Hemivertebrae, ... OMIM:109400
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Mend Syndrome
Overlapping toe, Kyphosis, 2-3 toe syndactyly, Microretrognathia, Aortic valve stenosis, Hyperact... OMIM:300960
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Seckel Syndrome 1
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Clitoral hypertrophy, Sanda... OMIM:210600
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99413
Turner Syndrome
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:881
Mosaic Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99228
Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99226
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Joint swelling, Osteomyelitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia,... OMIM:612852
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anemia, Hypothyroid... ORPHA:66634
Ck Syndrome
Kyphosis, Hyperactivity, Micrognathia, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint... OMIM:300831
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Micrognathia, Hemihypotrophy of lower limb, Fused cervical vertebrae OMIM:108450
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... ORPHA:3109
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... ORPHA:198
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses, Spondylolisthesis, In... OMIM:119600
Erdheim-Chester Disease
Bone pain, Joint swelling, Avascular necrosis, Osteomyelitis, Increased bone mineral density, Hyp... ORPHA:35687
Lamb-Shaffer Syndrome
Hyperactivity, Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia ORPHA:530983
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Beaking of vertebral bodies, Talipes equinovarus, Supernumerary nipple, Decrease... OMIM:213980
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Micropenis, Short ribs, F... OMIM:613091
Fragile X Syndrome
Hyperactivity, Metacarpophalangeal joint hyperextensibility, Scoliosis, Pes planus, Macroorchidis... OMIM:300624
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Short humerus, Osteopo... OMIM:239000
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... ORPHA:1344
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... ORPHA:1427
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Axial Osteomalacia
Polycystic liver disease, Osteomalacia, Increased bone mineral density OMIM:109130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Flexion contracture OMIM:615351
Long Qt Syndrome 8
Sudden cardiac death, Syndactyly, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinu... OMIM:618447
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Leukocytosis,... OMIM:147750
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... OMIM:616549
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Ivic Syndrome
Joint stiffness, Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of... ORPHA:2307
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormality of the hallux, Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of ... ORPHA:456312
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Micropenis, Hypogonadotropic hypogonadism, Short femoral neck, Tapered finger, W... OMIM:617159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Maternal diabetes, ... ORPHA:45452
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Sh... OMIM:609053
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Pycnodysostosis
Spondylolisthesis, Increased bone mineral density, Spondylolysis, Micrognathia, Brachydactyly, Sc... OMIM:265800
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Hyperactivity, Cryptorchidism, Hypothyroid... OMIM:617796
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
19P13.12 Microdeletion Syndrome
Kyphosis, Precocious puberty, Toe clinodactyly, Deep plantar creases, Clinodactyly of the 5th fin... ORPHA:254346
Sanjad-Sakati Syndrome
Hypoparathyroidism, Spinal canal stenosis, Hypoplasia of penis, Congenital hypoparathyroidism, Pa... ORPHA:2323
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... OMIM:600081
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Jaundice, Short rib... OMIM:208500
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Bicornuate uterus, Split foot, Hypoplasia of the radius, Uterus di... ORPHA:958
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Prolonged QT interval ORPHA:94090
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Aortic valve stenosis, Joint stiffness, Limitatio... OMIM:139210
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Accelerated skel... ORPHA:50945
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Long thumb, Adrenal hypoplasia, Attention deficit hyperacti... OMIM:619151
Desmosterolosis
Increased bone mineral density, Splenomegaly, Osteopetrosis, Micrognathia, Micromelia, Ambiguous ... ORPHA:35107
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Cirrhotic Cardiomyopathy
Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic dysfunction, Cirrhosis, Ele... ORPHA:57777
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Talipes equinovarus, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Join... ORPHA:3306
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Hemi... OMIM:276820
Trichothiodystrophy
Multiple joint contractures, Joint dislocation, Increased bone mineral density, Craniosynostosis,... ORPHA:33364
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Finger clinodactyly, Osteolytic d... ORPHA:79474
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Camptodactyly, Short foot, Me... OMIM:227330
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Robinow Syndrome
External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Bifid distal phalanx of the thum... ORPHA:97360
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Abnormal... OMIM:118100
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Acrorenal-Mandibular Syndrome
Absent nipple, Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Rudimentary fibula, Hyp... OMIM:200980
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Sickle Cell Anemia
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... ORPHA:232
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Wolf-Hirschhorn Syndrome
Radioulnar synostosis, Biliary tract abnormality, Delayed skeletal maturation, Sacral dimple, Pre... OMIM:194190
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... OMIM:307800
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Hypertension... ORPHA:251274
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyse... OMIM:264700
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendon, Arthritis, Limitation of k... OMIM:203500
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Precocious puberty, Hyperactivity, Micrognathia, Pes cavus, Unilateral cryptorchi... ORPHA:447980
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia, Craniosynostosis OMIM:218550
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... ORPHA:2879
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ul... OMIM:143095
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Microphthalmia, Syndromic 3
Butterfly vertebrae, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Hemivertebrae, Verte... OMIM:206900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Exocrine pancreatic insufficiency, Short neck, Broad hallux, Hypermobility of inte... ORPHA:508498
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Stenosis o... OMIM:112250
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Clinodactyly of the 5th finger, Hyperactivity, Hypoplasia of penis, Small hand, Pes cav... ORPHA:85293
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Short neck, Metopic... OMIM:269150
Gaucher Disease Type 3
Delayed skeletal maturation, Bone pain, Avascular necrosis, Hepatomegaly, Increased bone mineral ... ORPHA:77261
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Rhizomelic arm shortening, Sagittal craniosynostosis, Bro... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Metaphyseal irregularity, Sclerosis of skull base, 2-3 toe syndactyly, Irregula... OMIM:618162
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hypogonadism, First degr... OMIM:160900
Gaucher Disease
Hepatomegaly, Osteopenia, Abnormal bone structure, Osteolysis, Pancytopenia, Delayed skeletal mat... ORPHA:355
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Genu valgum, Hypogonad... ORPHA:1328
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility, Macroorchidism OMIM:300143
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hypoplasia of the uterus, Hyperinsulinemia, Absence of pubertal ... ORPHA:785
Gitelman Syndrome
Graves disease, Gout, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval... ORPHA:358
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Rett Syndrome
Kyphosis, Abnormal T-wave, Scoliosis, Prolonged QTc interval, Short foot OMIM:312750
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Hyperactivity, Absent thumb, Micropenis, Hypospadias, Micrognathia, Sacral di... OMIM:617516
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Scoliosis, Dense calvaria, Ovoid thor... OMIM:252900
Aggressive Systemic Mastocytosis
Bone pain, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteopor... ORPHA:98850
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Brachydactyly, Osteolytic defects of the phalanges of the h... OMIM:600705
Cartilage-Hair Hypoplasia
Hepatomegaly, Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Microme... ORPHA:175
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Pediatric-Onset Graves Disease
Graves disease, Neutropenia in presence of anti-neutropil antibodies, Accelerated skeletal matura... ORPHA:525731
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... OMIM:300554
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
16P12.1P12.3 Triplication Syndrome
2-3 toe syndactyly, Hyperactivity, Decreased response to growth hormone stimulation test, Promine... ORPHA:485405
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Fanconi Anemia, Complementation Group D2
Annular pancreas, Aplasia of the 1st metacarpal, Neutropenia, Absent thumb, Micropenis, Hypergona... OMIM:227646
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Micrognathia, Abnormality of the spleen, Scoliosis, Diabetes mell... ORPHA:94063
Feingold Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Abno... ORPHA:1305
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia,... ORPHA:26793
Craniometaphyseal Dysplasia
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis ORPHA:1522
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Abnorm... ORPHA:1788
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Osteopenia, Primary amenorrhea, Delayed skeletal matu... OMIM:615363
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Pes cavus, Prolonged QT interval, Joint hypermobility OMIM:300352
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Short ribs, Postaxial polydactyly, Pancreatic fibrosis, Femoral bowing, Preaxia... OMIM:615503
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Micrognathia, Short neck, Abnormality of the ankles, Scoliosis, Upper limb und... ORPHA:529962
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Metrorrhagia, Fractures of the long bones, Abnorma... ORPHA:464329
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Hyperactivity, Congestive heart failure, Macroorchidism ORPHA:3077
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Calf muscle pse... OMIM:310200
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Exocrine pancreatic insufficiency, Hyperactivity, Joint hypermobility, Red... OMIM:617052
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... OMIM:619652
Nathalie Syndrome
Abnormal EKG OMIM:255990
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense ... OMIM:252920
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancyto... ORPHA:86843
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Hyperactivity, Spleno... OMIM:252930
Cousin Syndrome
Ambiguous genitalia, female, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... OMIM:260660
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Paget Disease Of Bone 3
Patchy osteosclerosis, Bone pain, Osteolysis, Fractures of the long bones OMIM:167250
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Hyperactivity, Micrognathia, Osteoporosis, Attention deficit hype... ORPHA:73272
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Attrv122I Amyloidosis
Angina pectoris, Spinal canal stenosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive car... ORPHA:85451
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Williams Syndrome
Cholelithiasis, Osteopenia, Sudden cardiac death, Down-sloping shoulders, Abnormality of the ankl... ORPHA:904
Bohring-Opitz Syndrome
Overlapping toe, Short toe, Dislocated radial head, Deep plantar creases, Supernumerary nipple, J... OMIM:605039
Desmosterolosis
Ambiguous genitalia, female, Ambiguous genitalia, male, Joint contracture of the hand, Bilateral ... OMIM:602398
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility OMIM:313200
Meckel Syndrome 14
Microretrognathia, Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Decreased calvar... OMIM:619879
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Hypoplasia of penis, Sandal gap, Cryptorchidism, H... ORPHA:228402
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
47,Xyy Syndrome
Increased serum testosterone level, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Oligo... ORPHA:8
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Limited mobility of proximal interphalangeal joint, Thr... OMIM:222300
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Prolonged QTc interval, Pericarditis ORPHA:231111
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Overlapping toe, Hip contracture, Clinodactyly of the 5th finger, Microretrogna... ORPHA:488642
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Anemia, Abnormality of the medullary cavity o... OMIM:127000
Duane Retraction Syndrome
Talipes equinovarus, Hypoplasia of the radius, Micrognathia, Absent radius, Short neck, Brachydac... ORPHA:233
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature thelarche, Prolonged QTc interval, Hypothyroidism, Premature pubarc... OMIM:616878
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Tachycardia, Syncope, Ch... ORPHA:98849
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Left bundle b... ORPHA:563
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia... ORPHA:514
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Accelerated skeletal maturation, Short ribs, Increased fibular diam... ORPHA:3144
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Talipes calcaneovarus, Short distal phalanx of finger, Talipes equinovarus, Hyper... OMIM:300534
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Overlapping toe, Hepatomegaly, Micropenis, Coronal craniosynostosis, Micrognathia... ORPHA:83617
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Short metacarpal, Femoral retroversi... OMIM:610915
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Metaphyseal widening, Platyspondyly, Kyphosis OMIM:618476
Trisomy 8P
Annular pancreas, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th finger, Multip... ORPHA:264450
Frontometaphyseal Dysplasia 2
Dislocated radial head, Ulnar deviation of the hand, Hip contracture, Talipes equinovarus, Pulmon... OMIM:617137
Apert Syndrome
Vertebral segmentation defect, Ovarian neoplasm, Cervical C5/C6 vertebrae fusion, Micromelia, Bro... ORPHA:87
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Telangiectasia, Kyphoscoliosis, Talipes equinovarus, Small hand, Micrognathia, ... OMIM:268400
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Talipes equinovarus, Hypospadias, Bifid uterus, Accessory spleen, Mic... OMIM:236680
Ovarian Dysgenesis 9
Delayed skeletal maturation, Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulat... OMIM:619665
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Osteopor... OMIM:232220
Raine Syndrome
Long hallux, Increased bone mineral density, Micrognathia, Short neck, Micromelia, Brachydactyly,... OMIM:259775
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal widening, ... OMIM:617941
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, 2-3 toe syndactyly, Lymphopenia, Hyperactivity, Scoliosis, Premature ovarian insu... ORPHA:391307
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Micropenis OMIM:618504
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Craniosynostosis, Micropenis, Micrognathia, Short neck, Limited elbow extension, C... OMIM:609625
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Pes cavus, Abnormal EKG, Decreased/absent ankle reflexes, Scoliosis ORPHA:1177
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... OMIM:231070
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hyperactivity, Camptodactyly, Cryptorchidism, Hemihypotrophy of lower limb, Hip d... ORPHA:412035
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hepatic steatosis, Fasting hyperinsulinemia, Dilated cardiomyopath... ORPHA:71212
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Talipes equinovarus, Hepatomegaly, Flexion contracture, Pancreatic fibrosis, Hypothyroidism, Abno... OMIM:616263
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent ... OMIM:228520
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Jacobsen Syndrome
Annular pancreas, Long hallux, Short toe, Toe clinodactyly, Aortic valve stenosis, Broad hallux p...