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Gene: Setd3 MGI:1289184

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Gene Summary

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

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
short tibia Setd3tm1.1(NCOM)Mfgc HOM Early adult 6.67×10-10
abnormal pancreas morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
vertebral fusion Setd3tm1.1(NCOM)Mfgc HOM   Early adult 6.83×10-07
increased leukocyte cell number Setd3tm1.1(NCOM)Mfgc HOM   Early adult 5.47×10-05
hyperactivity Setd3tm1.1(NCOM)Mfgc HOM Early adult 2.76×10-06
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
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
decreased prepulse inhibition Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.08×10-11
shortened QT interval Setd3tm1.1(NCOM)Mfgc HOM   Early adult 8.50×10-05
small testis Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
hydrometra Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
abnormal seminal vesicle morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
decreased freezing behavior Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.36×10-08

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Gross Pathology and Tissue Collection

Images

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Histopathology

Images

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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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
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Delayed skeletal maturation, ... ORPHA:168621
Isolated Osteopoikilosis
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... ORPHA:166119
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Coronal cleft vertebrae, Short long bone, Short 3rd metacarpal,... OMIM:118651
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... ORPHA:99880
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... ORPHA:143
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture, Scoliosis OMIM:166700
Osebold-Remondini Syndrome
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... OMIM:112910
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... OMIM:127300
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Diastrophic Dysplasia
Joint dislocation, Micromelia, Micrognathia, Proximal placement of thumb, Abnormal form of the ve... ORPHA:628
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Aarskog-Scott Syndrome
Short palm, Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly of finger, Talipes, Sho... ORPHA:915
Osteomesopyknosis
Low back pain, Increased bone mineral density, Infertility OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Diabetes mellitus, Ectopic ossification, Increased bone mineral density, Abnormality of the verte... OMIM:602475
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Delayed skeletal maturation, F... OMIM:612447
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency, Pedal edema ORPHA:75325
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency... ORPHA:93315
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u... ORPHA:2204
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syn... ORPHA:313892
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Bone pain, ... ORPHA:37748
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Bil... ORPHA:77259
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Micrognathia, Coxa valga, Abn... ORPHA:163649
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Precoc... ORPHA:356961
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius... 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
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Infertility, Scoliosis, Thoracic h... ORPHA:1445
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Microvesi... OMIM:610198
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... OMIM:601559
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... ORPHA:2332
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Plantar pits, He... ORPHA:377
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Sandwich appearance of vertebral bod... OMIM:259700
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Melorheostosis
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Bone pain, Hyperostosis, A... ORPHA:2485
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,... OMIM:611490
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Pro... OMIM:170390
Caudal Regression Syndrome
Maternal diabetes, Joint stiffness, Missing ribs, Cryptorchidism, Impulsivity, Aplasia/Hypoplasia... ORPHA:3027
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage... OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... OMIM:606612
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Polyphagia OMIM:618406
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... ORPHA:1423
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Hip dislocation, Small hand, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H... OMIM:607143
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... ORPHA:3344
Pycnodysostosis
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Micro... ORPHA:763
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... OMIM:268310
Andersen-Tawil Syndrome
Micrognathia, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopi... ORPHA:37553
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-induced behavior, Con... ORPHA:3077
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia ORPHA:1237
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... ORPHA:398124
Acheiropody
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... OMIM:200500
Diaphanospondylodysostosis
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... ORPHA:1988
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemive... ORPHA:2916
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Autoimmune hypoparathyroidism, Depression,... ORPHA:36913
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... OMIM:178110
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot morphology, Hip d... OMIM:605274
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone minera... ORPHA:800
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... OMIM:215045
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Conges... OMIM:235200
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... ORPHA:1436
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... OMIM:609945
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillation, Accelerated sk... OMIM:613327
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Werner Syndrome
Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc... ORPHA:902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... ORPHA:85184
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Short neck, Micrognathia, Cryptorchidi... OMIM:618000
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc... OMIM:258315
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... ORPHA:2345
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Cryptorchi... OMIM:300354
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Micrognathia, Cryptorchidism, Hyperinsulinemia, Abnormal pancr... ORPHA:2849
Ck Syndrome
Hyperactivity, Hyperlordosis, Micrognathia, Kyphosis, Aggressive behavior, Irritability, Scoliosi... OMIM:300831
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Increased bone mineral density, Decreased response to growth hormone stimu... ORPHA:94089
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... OMIM:265000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... ORPHA:90065
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... OMIM:122600
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Lamb-Shaffer Syndrome
Hyperactivity, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosi... ORPHA:530983
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Craniosynostosis, Short neck, Absent thumb, Humeroradial synostosis, Ab... OMIM:251230
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Abnormal repetitiv... OMIM:617796
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Hip dislocation, Joint h... ORPHA:96169
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... ORPHA:2658
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogon... ORPHA:465508
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Hypospadias, Camptodactyly of finger, T... ORPHA:90652
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... OMIM:305620
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... OMIM:615583
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial... ORPHA:96334
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral en... ORPHA:289176
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Hyperactivity, Impulsivity, Cryptorchid... OMIM:610443
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Fused cervical vertebrae, Abnorma... ORPHA:2522
Fragile X Syndrome
Joint laxity, Pes planus, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Scoliosis, Re... OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn... OMIM:259720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, U... OMIM:164745
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated ske... ORPHA:373
Usmani-Riazuddin Syndrome, Autosomal Dominant
Pes planus, Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Depress... OMIM:619467
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... OMIM:614613
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Short neck, Micrognathia, Postaxial polydactyly, Preaxial pol... OMIM:617925
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic stea... ORPHA:66634
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Abnormality of t... ORPHA:2905
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Delayed skeletal maturation, Epispadias... OMIM:148050
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Polydipsia, Retrope... ORPHA:35687
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Dysostosis, Stanescu Type
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Bowing of the... ORPHA:1798
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydacty... OMIM:263520
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Sclerosis of skull base, Sc... OMIM:130720
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Micrognathia, High iliac wing, Aortic valve stenos... ORPHA:2780
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, E... ORPHA:89936
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... ORPHA:198
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Self-... ORPHA:3306
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Pes planus, Decreased r... OMIM:213980
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... ORPHA:57777
Satoyoshi Syndrome
Abnormality of the knee, Hyperlordosis, Nephrogenic diabetes insipidus, Tapered finger, Abnormal ... ORPHA:3130
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... ORPHA:1826
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... OMIM:271520
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... ORPHA:99413
Turner Syndrome
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... ORPHA:881
Mosaic Monosomy X
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... ORPHA:99228
Monosomy X
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... ORPHA:99226
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Dysphagia... OMIM:160900
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... OMIM:109400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Decreased skull ossification,... OMIM:601163
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Primary a... OMIM:614837
Seckel Syndrome 1
Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h... OMIM:210600
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... OMIM:613686
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Rett Syndrome
Kyphosis, Short foot, Scoliosis, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical ... OMIM:312750
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteol... OMIM:612852
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... ORPHA:228402
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture OMIM:615351
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... OMIM:601005
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... OMIM:241410
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long ... ORPHA:447980
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... OMIM:119600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... OMIM:618476
Acro-Renal-Ocular Syndrome
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Absent tibia, Metaphyseal widen... OMIM:613091
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cardiomyopathy, Cervical ... OMIM:616549
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Clinodactyly of the 5th finger, Hypothyroidism, Hepatic steatosis, Finger... ORPHA:254346
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Abnormal repetitive mannerisms, Accessory sp... OMIM:194190
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Congenital hip dislocation, Foot joint contracture, Diabetes mellitus, Proximal pla... ORPHA:456312
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia OMIM:109130
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contractur... OMIM:620029
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... OMIM:602111
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Pediatric-Onset Graves Disease
Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Increased circulating T4 con... ORPHA:525731
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Decreased response to growth hormone stimulation test, Short neck, Microgn... ORPHA:529962
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Anemia, Cortical thickening of... OMIM:131300
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabul... OMIM:617159
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Brachydactyly, Aplastic clav... OMIM:265800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... OMIM:619151
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Absent thumb, Short thumb, Sho... OMIM:609053
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... ORPHA:239
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Joint hypermobility OMIM:300143
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Incre... ORPHA:355
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Decreased/absent ankle reflexes, Cardiomyopathy, Scoliosis, Dysp... ORPHA:1177
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Tricuspid regurgitation, Glandular hypospadias, Talipes equinovarus, Short tibia OMIM:620306
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... OMIM:206920
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... ORPHA:958
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Aggressive behavior, Attention deficit hyperactivity disorder, Pes cavus, ... OMIM:300352
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Spinal canal st... ORPHA:1724
Desmosterolosis
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg... ORPHA:35107
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, 2-3 toe synd... ORPHA:391307
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv... OMIM:600430
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... ORPHA:33364
Fg Syndrome 3
Hyperactivity, Broad hallux, Cryptorchidism, Joint contracture, Broad thumb OMIM:300406
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... OMIM:208500
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Del... ORPHA:2323
Myhre Syndrome
Vertebral fusion, Overlapping toe, Joint stiffness, Short neck, Cryptorchidism, Hypoplastic iliac... OMIM:139210
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stim... ORPHA:485405
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... ORPHA:85293
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph... ORPHA:1328
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... ORPHA:358
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, U... OMIM:200980
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Joint stiffness, Aggressive behavior, Splenomegaly, Ovoid thoracolum... OMIM:252920
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... OMIM:227330
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Scoliosis, Attention d... OMIM:620141
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... OMIM:307800
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, Rh... OMIM:618162
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia OMIM:617306
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Central hypothyroidism, Lymphoc... ORPHA:514
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... OMIM:269150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Limited mobili... OMIM:222300
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymme... OMIM:252900
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... ORPHA:2634
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... OMIM:206900
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar v... OMIM:252930
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Short neck, Mi... ORPHA:2879
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Aggressive behavior, Emotional blunting, Fle... ORPHA:86309
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Brachydactyly, Hyperactivity, Micrognathia, Aggressive behavior, Cryptorchidism, Fl... OMIM:300534
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... ORPHA:77261
Stankiewicz-Isidor Syndrome
Sacral dimple, Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thum... OMIM:617516
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Ventricular tachycardia, Prolonge... OMIM:616878
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... ORPHA:1788
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Ambiguous genitalia, Bowing of the long bon... ORPHA:140
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Pes planus, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior,... ORPHA:449291
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Jaundice, Dilated cardiomyopathy, Ventricular t... ORPHA:26793
12Q14 Microdeletion Syndrome
Diabetes mellitus, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Clinodact... ORPHA:94063
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... OMIM:119100
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short ... OMIM:227646
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Craniosynostosis, Fibular aplasia OMIM:218550
Williams Syndrome
Osteopenia, Hypoplasia of penis, Myocardial infarction, Micrognathia, Abnormal form of the verteb... ORPHA:904
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Satoyoshi Syndrome
Pes planus, Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalange... OMIM:600705
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... OMIM:607323
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300554
Nathalie Syndrome
Abnormal EKG OMIM:255990
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te... OMIM:310200
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... ORPHA:1305
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Epidural hemorrhage, Abnormal pe... ORPHA:464329
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... OMIM:619652
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ventricular tachycardia, Increased circulating renin level, ... OMIM:263800
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating gro... OMIM:608747
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono... ORPHA:86843
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... ORPHA:785
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Micrognathi... OMIM:309520
Bohring-Opitz Syndrome
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Ulnar deviation of the wri... OMIM:605039
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Delayed closure of the anterior fontanelle, T... OMIM:127000
Desmosterolosis
Rhizomelia, Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous geni... OMIM:602398
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Preaxial hand polydacty... ORPHA:233
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar... OMIM:615300
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Kyphoscoli... ORPHA:488642
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Dysphagia, Arrhythmia, Compensated hypothyroidism ORPHA:480864
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax... OMIM:619879
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Sp... ORPHA:85451
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia ORPHA:231111
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... ORPHA:100924
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Euphori... ORPHA:31826
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Distal Deletion 12Q
Short neck, Micrognathia, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd fi... ORPHA:96149
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hy... ORPHA:83617
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Late... OMIM:164900
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Micrognat... OMIM:613458
Trisomy 8P
Sacral dimple, Multiple joint contractures, Short fourth metatarsal, Short fifth metatarsal, Over... ORPHA:264450
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Short neck, Micrognathia, S... OMIM:259775
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopo... ORPHA:98849
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe... OMIM:610915
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy... ORPHA:563
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Fatigabl... ORPHA:268882
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Thrombo... OMIM:617941
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Delayed skeletal maturation, Hypogonadism, Testicula... OMIM:618165
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Osteopetrosis OMIM:618541
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptorchidism, Short thumb, Osteoporos... OMIM:268400
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,... OMIM:308750
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... OMIM:119800
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Talipes, Short neck, Missing... ORPHA:2308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal... OMIM:616263
Cousin Syndrome
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... OMIM:260660
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Osteoporosis, Neutropenia, Gout... OMIM:232220
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Accelerated skeletal maturation, Sh... ORPHA:3144
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hepatic necrosis, Hyperi... ORPHA:71212
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th... ORPHA:1606
Hirschsprung Disease-Ganglioneuroblastoma Syndrome