Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
regulator of G-protein signalling 10
Synonyms:
2310010N19Rik

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rgs10 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 Rgs10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o... ORPHA:564003
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ... ORPHA:566943
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Short stature, Splenomegaly, Abnormality of limb bone morphology,... ORPHA:2204
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Astley-Kendall Dysplasia
Disproportionate short-limb short stature, Micromelia, Epiphyseal stippling ORPHA:85175
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Enlarged e... OMIM:264010
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses ... ORPHA:166002
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... OMIM:601376
Diastrophic Dysplasia
Joint stiffness, Intrauterine growth retardation, Neonatal short-limb short stature, Hypoplastic ... ORPHA:628
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... OMIM:601561
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Langer Mesomelic Dysplasia
Disproportionate short-limb short stature, Severe short stature, Abnormal morphology of ulna, Apl... ORPHA:2632
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Disproportionate short-trunk short stature,... ORPHA:93284
Greenberg Dysplasia
Abnormal leukocyte morphology, Severe short-limb dwarfism, Abnormal bone ossification, Anterior r... ORPHA:1426
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Osteoarthriti... ORPHA:93351
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short metacarpal OMIM:611263
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Short stature, Craniofacial osteosclerosis, Craniofacia... OMIM:122860
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydactyly, Micromelia, Limb unde... OMIM:269870
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphys... ORPHA:177
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... OMIM:231095
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Decreased body weight, Increased bone mineral density, Short stature, Ara... OMIM:614856
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Short stature, Brachydactyly, Micromelia, Limb undergrowth OMIM:122900
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Osteomye... ORPHA:53
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Short stature, Broad distal phalanx... ORPHA:93430
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... OMIM:602557
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Coxoauricular Syndrome
Abnormality of femur morphology, Short stature, Reduced bone mineral density, Micromelia, Abnorma... ORPHA:1508
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Neonatal short-limb short stature, Severe limb shortening, Decreased cranial... OMIM:151210
Laron Syndrome
Delayed menarche, Severe short stature, Short long bone, Limb undergrowth OMIM:262500
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Acromesomelic Dysplasia 2A
Stillbirth, Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplas... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Disproportionate short-limb short stature, Short stature, Limited elbow exten... ORPHA:156728
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral n... ORPHA:85184
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Severe short stature, Micromelia, Short palm, Limitation of joint mobility ORPHA:168555
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... ORPHA:163649
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Severe short statur... ORPHA:1240
Hypochondroplasia
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Osteoarthri... ORPHA:429
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Sp... OMIM:259700
Thoracomelic Dysplasia
Disproportionate short-limb short stature, Short ribs, Abnormality of fibula morphology, Limb und... ORPHA:1803
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short stature, Short humerus, Micro... ORPHA:2019
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short stature, Hypo... ORPHA:93296
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Metaphyseal spurs, Dysplastic ilia... OMIM:608728
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Kyphomelic Dysplasia
Joint stiffness, Micrognathia, Micromelia, Large hands, Missing ribs, Bowing of the long bones, A... ORPHA:1801
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Short... OMIM:300863
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Micrognathia, Abnormal shoulder morphology, Brachydactyly ORPHA:1277
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... OMIM:616809
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... ORPHA:85170
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Majeed Syndrome
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Increased bone mineral density, Leuko... ORPHA:77297
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Brachydactyly, Micromelia, Truncal obesity, Ulnar deviati... ORPHA:2928
Dysosteosclerosis
Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short sternum, Absent paranasal sinu... OMIM:224300
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... ORPHA:1350
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Micrognathia, Micromelia, ... OMIM:256050
Dysosteosclerosis
Recurrent fractures, Hypoplastic vertebral bodies, Increased bone mineral density, Short stature,... ORPHA:1782
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia,... ORPHA:2631
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... ORPHA:63446
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Severe short stature, Hypoplasia of the radius, Broad hallux phalanx, Micromelia... ORPHA:2249
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Failure to thrive, Short ribs, Micromelia... ORPHA:1842
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Acrocephalopolydactyly
Limb undergrowth, Hepatosplenomegaly, Brachydactyly, Short long bone ORPHA:221054
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Ollier Disease
Joint stiffness, Micromelia, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Brachydactyly, Bowing of the long bones, Acromesomelia, Disproportionate short s... ORPHA:40
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Small for gestatio... OMIM:166210
Achondroplasia
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... ORPHA:15
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Failure to thrive, Increased bone mineral density, Short stature, Osteopenia... OMIM:239000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Pycnodysostosis
Intrauterine growth retardation, Disproportionate short-limb short stature, Acromelia, Increased ... ORPHA:763
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... OMIM:127300
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Short ribs, Hypoplastic ilia, Micromelia, Absent or minimally ... OMIM:600972
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia, Neonatal death OMIM:273680
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Small for gestational age, Short stature, Osteopenia, Dec... OMIM:616229
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Upper limb undergrowth, Disproportionate short-tru... ORPHA:168549
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Severe short statu... ORPHA:93352
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short ribs, Metaphyseal widening, Brachydactyly, Limb undergrowth, Coarse metaphyseal trabeculari... OMIM:618961
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Ruvalcaba Syndrome
Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Short fo... OMIM:180870
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate short-limb shor... OMIM:269250
Jeune Syndrome
Short stature, Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Post... ORPHA:474
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Wide anterior fontanel, Cone-sha... OMIM:618150
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Neonatal short-limb short stature, Increased bon... ORPHA:50945
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices, Short stature, Brachydact... ORPHA:1798
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... OMIM:259710
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Severe short-limb dwarfism, Brachydactyly, Cuboidal metacarpal, Abnormally shape... ORPHA:968
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth OMIM:601016
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Increased bone mineral density, Severe short stature, Osteopetrosis, Micrognath... ORPHA:2780
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Clinodactyly of the 5th finger, Short ... ORPHA:231144
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Shortening ... OMIM:601356
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Short stature,... ORPHA:93329
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Odontochondrodysplasia
Short stature, Cone-shaped epiphysis, Micromelia, Square pelvis bone, Bowing of the long bones, A... ORPHA:166272
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93324
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Pseudo-fractures, In... ORPHA:289176
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Small hand, Micrognathia, Acromicria, Short foot, Clinodactyly, Obe... ORPHA:254525
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... ORPHA:1505
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Disproportionate short-limb short stature, Talipes equinovarus, Bil... OMIM:609441
Chondrodysplasia-Disorder Of Sex Development Syndrome
Increased skull ossification, Severe short stature, Micromelia, Short phalanx of finger, Abnormal... ORPHA:1422
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopoie... OMIM:259720
Craniometaphyseal Dysplasia
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis ORPHA:1522
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Stenosis o... OMIM:112250
Achondrogenesis Type 1B
Severe short stature, Talipes equinovarus, Micrognathia, Micromelia, Short foot, Abnormal enchond... ORPHA:93298
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Arachnodactyly, Micromelia, Genu valgum, Sandal gap, Obesity, Joint hyperflexibility ORPHA:1035
Hypophosphatasia, Infantile
Bowing of the legs, Stillbirth, Metaphyseal cupping, Failure to thrive, Disproportionate short-li... OMIM:241500
Achondrogenesis Type 1A
Recurrent fractures, Severe short stature, Micrognathia, Micromelia, Short foot, Abnormal enchond... ORPHA:93299
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Limitation of joint mobility, Neonatal short-limb short st... OMIM:224400
Pycnodysostosis
Increased bone mineral density, Short stature, Micrognathia, Brachydactyly, Aplastic clavicle, Os... OMIM:265800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Postnatal growth retar... OMIM:614732
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Short stature, Cortical subperiosteal resor... ORPHA:94089
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Joint stiffness, Clinodactyly of the 5th finger, Short stature, ... ORPHA:2496
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Short stature, Hypoplasia of the radius, ... OMIM:617604
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, Rhizomelia, Sho... OMIM:618019
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Osteopenia, Flared ... OMIM:616897
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Hall-Riggs Syndrome
Failure to thrive, Joint stiffness, Short stature, Brachydactyly, Limb undergrowth, Abnormal epip... ORPHA:2107
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Short stature, Micrognathia, Brachydactyly, Micromelia, Split hand, Intrauterin... ORPHA:2145
Kenny-Caffey Syndrome, Type 2
Severe short stature, Increased bone mineral density, Small for gestational age, Short stature, T... OMIM:127000
Image Syndrome
Metaphyseal dysplasia, Intrauterine growth retardation, Micromelia ORPHA:85173
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Desmosterolosis
Failure to thrive, Severe short stature, Increased bone mineral density, Splenomegaly, Osteopetro... ORPHA:35107
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, 11 pairs of ribs, Micromelia, Rhizomelia,... OMIM:215140
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... ORPHA:77259
Achondrogenesis
Severe short stature, Micrognathia, Micromelia, Abnormality of bone mineral density, Abnormal enc... ORPHA:932
Otopalatodigital Syndrome Type 2
Carpal synostosis, Failure to thrive, Increased bone mineral density, Flared iliac wing, Preaxial... ORPHA:90652
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphyseal cupping, M... ORPHA:85166
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Growth delay, Retic... OMIM:611490
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Short stature, Mesomelic arm shorteni... OMIM:171480
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Wide anterior fontanel, Short stature, Osteopenia, Micrognathia, Micromelia, Short pha... OMIM:225410
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses, Increased bone minera... OMIM:119600
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Small hand, Patchy osteosclerosis, Micrognathia, Short fo... OMIM:241410
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ... ORPHA:73272
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Decreased calvarial ossification,... ORPHA:2772
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Small for gestational age, Micrognathia, Conge... ORPHA:453510
C Syndrome
Dislocated radial head, Failure to thrive, Short stature, Micrognathia, Micromelia, Fused sternal... OMIM:211750
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Acrodysostosis
Short toe, Abnormal morphology of ulna, Short stature, Hypoplasia of the radius, Cone-shaped epip... ORPHA:950
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A... ORPHA:321
Three M Syndrome 1
Growth delay, Clinodactyly of the 5th finger, Postnatal growth retardation, Small for gestational... OMIM:273750
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Fibular hyp... OMIM:164900
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short stature, Short tibia, Mesomelia, Hip dislocation, Fibular aplasia OMIM:605274
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia OMIM:228940
Schwartz-Jampel Syndrome, Type 1
Coxa vara, Bowing of the legs, Hip contracture, Talipes equinovarus, Joint contracture of the han... OMIM:255800
Infantile Systemic Hyalinosis
Joint stiffness, Recurrent fractures, Failure to thrive, Severe short stature, Osteopenia, Campto... ORPHA:2176
Distal Monosomy 17Q
Abnormal hip bone morphology, Small hand, Short stature, Micromelia, Deviation of finger, Abnorma... ORPHA:1597
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Limitation of joint mobility, Severe short stature, Talipes equinovarus, Flex... ORPHA:1865
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Flexion contracture, Short stature, Osteopenia, Limb undergrowth, Neutropenia,... OMIM:618005
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short stature, Short humerus, Micromelia, Postaxial hand polydact... ORPHA:2491
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Achondrogenesis, Type Ia
Bowing of the legs, Short clavicles, Stillbirth, Talipes equinovarus, Severe limb shortening, Hyp... OMIM:200600
12Q14 Microdeletion Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Short stature, Micrognathia, Abnormality of th... ORPHA:94063
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Small for gestational age, Short stature, Short ribs, Iliac crest serration,... OMIM:613320
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Neon... ORPHA:1190
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Micromelia, Genu valgum, Abnormal epiphysis morphology, Bowing of ... ORPHA:800
Thanatophoric Dysplasia
Joint stiffness, Intrauterine growth retardation, Disproportionate short-limb short stature, Brac... ORPHA:2655
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... OMIM:602418
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Limb undergrowth, Abnormal metacarpal morphology, ... ORPHA:3429
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Sea-blue histiocytosis, Failure to thrive, Hypoplastic vertebral bodies, Splenom... OMIM:230600
Microcephalic Primordial Dwarfism, Dauber Type
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Short stature, Severe pos... ORPHA:319675
Werner Syndrome
Slender build, Joint stiffness, Increased bone mineral density, Short stature, Small hand, Osteop... ORPHA:902
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of finger, Severe short stature, Increased bone mineral density, Elbow ankylosis, Ost... ORPHA:2658
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Disproportionate short-limb short stature, Rhizo-meso... OMIM:611717
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomeg... OMIM:259730
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Di... OMIM:223800
Beemer-Ertbruggen Syndrome
Micrognathia, Thrombocytopenia, Increased bone mineral density ORPHA:1237
Raine Syndrome
Long hallux, Increased bone mineral density, Short stature, Micrognathia, Brachydactyly, Neonatal... OMIM:259775
Hypertrichosis Cubiti
Micromelia, Rhizomelia, Severe short stature, Joint hyperflexibility ORPHA:2220
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... OMIM:615777
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Br... ORPHA:3121
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... OMIM:210720
Osteoglophonic Dysplasia
Broad metacarpals, Failure to thrive, Broad phalanx, Craniosynostosis, Short phalanx of finger, L... OMIM:166250
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal sclerosis, Polycythemia, Thrombocyto... ORPHA:2905
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Sponastrime Dysplasia
Genu valgum, Rhizomelia, Hip subluxation, Small epiphyses, Intrauterine growth retardation, Short... ORPHA:93357
Acromesomelic Dysplasia 4
Metaphyseal irregularity, Broad phalanx, Short toe, Radial bowing, Short metatarsal, Short metaca... OMIM:619636
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... ORPHA:1860
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Metaphyseal widening, Brachydactyly, Irregular epiphyses, Mesomelia, Broad thumb, Rhizomelia, Joi... OMIM:612813
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Brachydactyly, Syndactyly, Micromelia, Sandal gap, Postnatal growth retardation OMIM:614800
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Increased bone mineral density, Short stature, Ectopic ossification, Brac... ORPHA:79444
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Acromesomelic Dysplasia 1
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... OMIM:602875
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Joint contracture of ... OMIM:260660
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Sclerosis of skull base, 2-3 toe syndactyly, Brachydactyly, Irregular e... OMIM:618162
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Short stature, Small hand, Patchy osteosclerosis, Microgn... ORPHA:2323
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Short stature ORPHA:1861
Pseudohypoparathyroidism Type 1A
Short fifth metatarsal, Increased bone mineral density, Reduced bone mineral density, Short statu... ORPHA:79443
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of t... ORPHA:175
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Osteopetrosis, Splenomegaly, Growth delay, Intrauterine growth retardation OMIM:618541
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Robinow Syndrome, Autosomal Recessive 2
Short stature, Micrognathia, Brachydactyly, Camptodactyly, Mesomelia, Broad thumb, Clinodactyly OMIM:618529
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal bone ossification, Postnatal growth retardation, Triangu... ORPHA:73230
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... OMIM:617866
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Abnormal epiphysis morphology, Osteolysis, Weight ... ORPHA:35687
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Aplasia/Hypoplasia of the radius, Ulnar bowing, Intraut... ORPHA:1765
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... OMIM:251230
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Narrow greater sciatic notch, Micrognathia, Broad phalanges of the hand, Short ... ORPHA:508533
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... ORPHA:93333
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia OMIM:612840
3M Syndrome
Clinodactyly of the 5th finger, Short stature, Congenital hip dislocation, Hypoplastic pubic bone... ORPHA:2616
Pyknoachondrogenesis
Sclerosis of skull base, Abnormal iliac wing morphology, Short ribs, Micromelia, Hypoplastic isch... ORPHA:3003
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Short stature, Short ribs, Brachydactyly, ... OMIM:614091
4Q21 Microdeletion Syndrome
Small hand, Micromelia, Short foot, Growth delay, Short palm, Intrauterine growth retardation, To... ORPHA:238750
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Microretrognathia, Finger joint hypermobility, Short stature, Monkey wrench f... OMIM:618870
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Talipes equinovarus, Short femur, Fem... OMIM:211350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, 11 pairs of ribs, Micromelia, Intrauterine growth retardation, Absent knee epiphy... OMIM:210710
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Short stature, Camptodactyly of finger, Brachydactyly, Micromelia... ORPHA:1784
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Bilateral talipes equinovarus, Micrognathia, Ge... OMIM:602398
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Coxa vara, Disproportionate short-limb short sta... OMIM:271510
Thanatophoric Dysplasia Type 2
Short stature, Brachydactyly, Joint hyperflexibility, Micromelia, Abnormal metaphysis morphology,... ORPHA:93274
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Metaphyseal widening OMIM:618476
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Micromelia, Hip subluxation, Short long bone, Epiphyseal stippling, Disproportiona... OMIM:271665
Stüve-Wiedemann Syndrome
Recurrent fractures, Flexion contracture of finger, Talipes equinovarus, Flexion contracture, Sho... ORPHA:3206
Osteogenesis Imperfecta, Type Vii
Coxa vara, Wide anterior fontanel, Bowing of the legs, Recurrent fractures, Short stature, Femora... OMIM:610682
Gm1 Gangliosidosis
Joint stiffness, Failure to thrive, Splenomegaly, Short stature, Camptodactyly of finger, Hepatos... ORPHA:354
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Coxa vara, Clinodactyly of the 5th finger, Brachydactyly, Disproportionate short stature, Truncal... ORPHA:2637
Trichothiodystrophy
Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Osteopenia, Increa... ORPHA:33364
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Osteogenesis Imperfecta, Type X
Generalized joint laxity, Short stature, Osteopenia, Micrognathia, Micromelia, Genu valgum, Joint... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Mesomelia, Broad thumb, Rhizomelia, Joint laxity ORPHA:171866
Fibrochondrogenesis
Wide anterior fontanel, Short stature, Short ribs, Camptodactyly of finger, Brachydactyly, Microm... ORPHA:2021
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Hip dislocation OMIM:241800
Spondyloenchondrodysplasia
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Short stature, Juvenil... ORPHA:1855
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Hypoplastic vertebral bodies, Short ribs, Increased fi... ORPHA:3144
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... ORPHA:3258
Dpm1-Cdg
Failure to thrive, Long hallux, Micrognathia, Hepatosplenomegaly, Camptodactyly, Limb undergrowth... ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Slc39A8-Cdg
Disproportionate short-limb short stature, Craniosynostosis, Short stature, Osteopenia, Cutaneous... ORPHA:468699
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Wide anterior fontanel, Severe short stature, Mesomelia, Rhizomelia, Disproportionate short stature OMIM:616482
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Microretrognathia, Progressive forearm bowing, Micromelia, Ulnar dev... OMIM:600383
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Intrauterine growth retardation, Radial bowing, Hand oligodact... ORPHA:2879
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Short stature, Partial duplication of thumb phalanx, Micrognathia... OMIM:616331
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... ORPHA:77261
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Increased bone mineral density, Reduced bone mineral de... ORPHA:79474
Glutamine Deficiency, Congenital
Micromelia, Neonatal death, Flexion contracture, Camptodactyly OMIM:610015
Roberts Syndrome
Craniosynostosis, Hypoplasia of the radius, Radioulnar synostosis, Sandal gap, Complete duplicati... ORPHA:3103
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... OMIM:609945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brachydactyly, Syn... OMIM:617895
Cardioacrofacial Dysplasia 2
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Limb undergrowth, Genu... OMIM:619143
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia OMIM:246200
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Becker Nevus Syndrome
Micromelia, Abnormality of tibia morphology, Spina bifida occulta ORPHA:64755
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Hypoplastic scapulae, Micromelia, Short stature ORPHA:79107
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Growth delay, Anemia, Femur fra... OMIM:612301
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Splenomegaly... ORPHA:355
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Splenomegaly, Short ribs, Bowing of the arm, Brachydactyly, Neonat... OMIM:269860
Short Stature, Microcephaly, And Endocrine Dysfunction
Disproportionate short-limb short stature, Lymphopenia, Short stature, Truncal obesity, Limb unde... OMIM:616541
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Failure to thrive, Tibial bowing, Sclerosis of skull base, Short ... OMIM:269150
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Osteopenia, Broad femoral neck, Spina bifida occulta, Sho... ORPHA:488434
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Duplication of the distal phalanx of hand, Proximal... OMIM:268310
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Growth delay, Splenomegaly, Craniosynostosis, Osteopetrosis, Reduced bone mi... ORPHA:667
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Intrauterine growth retardation, Flexion contracture, Small for gestational age ORPHA:79243
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Short stature, Micrognathia, Micromelia, Mesomelia, Intrauterine... ORPHA:1908
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Micromelia, Bowing of the long bones, Clubbing of toes ORPHA:1318
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Short stature, Brachydactyly, Limb undergrowth, Short foot OMIM:617809
Kagami-Ogata Syndrome
Flexion contracture, Splenomegaly, Micrognathia, Long fingers, Limb undergrowth, Coxa valga OMIM:608149
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromelia, Abnormal me... ORPHA:2636
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Impaired glucose tolerance, Diabetes mellitus, Fasting hy... ORPHA:2088
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608612
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Failure to thrive, Neutrophilia, Leukocytosis, Small for gestational age, Short ... ORPHA:99843
Osteogenesis Imperfecta
Abnormality of femur morphology, Femoral bowing, Osteopenia, Micromelia, Genu valgum, Rhizomelia,... ORPHA:666
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Micromelia, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:600092
Sclerosteosis 1
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Deviation of finger, Faci... OMIM:269500
Microlissencephaly-Micromelia Syndrome
Failure to thrive, 11 pairs of ribs, Micromelia, Adducted thumb ORPHA:50810
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93325
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Failure to thrive, Intrauterine growth retardation, Neonatal shor... ORPHA:289
Schisis Association
Micromelia, Small for gestational age ORPHA:63862
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Kinsship Syndrome
Dislocated radial head, Failure to thrive, Short stature, Osteopenia, Micrognathia, Polydactyly, ... OMIM:619297
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Failure to thrive, Short stature, Osteopetrosis, Micrognathia, Leukopenia, E... ORPHA:2785
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Micrognathia, Osteomalacia, Osteoporosis, Micromelia, Large hand... ORPHA:2671
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Absent thumb, Flexion contracture, Micrognathia, Syndactyly, Short phalanx o... OMIM:263650
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Short ribs OMIM:273730
Tbck-Related Intellectual Disability Syndrome
2-3 toe syndactyly, Broad finger, Osteoporosis, 11 pairs of ribs, Limb undergrowth, Clinodactyly,... ORPHA:488632
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Short stature, Syndactyly, Neonatal death... OMIM:146510
Symptomatic Form Of Hemochromatosis Type 1
Hyperglycemia, Diabetes mellitus ORPHA:465508
Williams Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Increased bone mineral density, Adducted thumb, ... ORPHA:904
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Brachydac... OMIM:612651
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Dend Syndrome
Hyperglycemia ORPHA:79134
Mosaic Trisomy 9
Talipes equinovarus, Micrognathia, Camptodactyly of finger, Finger clinodactyly, Micromelia, Rock... ORPHA:99776
Developmental And Epileptic Encephalopathy 89
Talipes equinovarus, Microretrognathia, Flexion contracture, Neonatal death, Limb undergrowth OMIM:619124
Cornelia De Lange Syndrome 1
Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, 2-3 toe syndactyly, Hand o... OMIM:122470
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:151660
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... ORPHA:769
Radio-Renal Syndrome
Severe short stature, Hypoplasia of the radius, Micrognathia, Micromelia, Brachydactyly, Short palm ORPHA:3015
Robinow Syndrome, Autosomal Dominant 1
Dislocated radial head, Wide anterior fontanel, Short stature, Small hand, Micrognathia, Bifid di... OMIM:180700
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Joint contracture of the hand, Micrognathia, Micromelia, Camptod... OMIM:256520
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance OMIM:248370
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Severe intrauterine growth retardation, Short sternum, Short meta... ORPHA:3404
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:134
Hydrolethalus
Postaxial hand polydactyly, Micrognathia, Micromelia ORPHA:2189
Robinow Syndrome, Autosomal Dominant 3
Short stature, Micrognathia, Syndactyly, Brachydactyly, Short phalanx of finger, Camptodactyly, M... OMIM:616894
Orofaciodigital Syndrome Type 4
Failure to thrive, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Severe short stature, Abse... ORPHA:2753
Apert Syndrome
Micromelia, Broad thumb, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, Finger... ORPHA:87
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Disproportionate short-limb short stature, Clinodactyly of the 5t... ORPHA:1507
Robinow Syndrome
Short distal phalanx of finger, Fused thoracic vertebrae, Small for gestational age, Short statur... ORPHA:97360
Cranioectodermal Dysplasia 2
Craniosynostosis, Splenomegaly, Short stature, Short ribs, Micrognathia, Syndactyly, Brachydactyl... OMIM:613610
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Polysplenia, Micromelia, Craniosynostosis OMIM:200995
Smith-Lemli-Opitz Syndrome
Micromelia, Hammertoe, Hip subluxation, Intrauterine growth retardation, Epiphyseal stippling, Sp... OMIM:270400
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia ORPHA:99885
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short ribs, Preaxial polydactyly, Postaxial polydactyly, Micromelia, Aplastic clavicle OMIM:616546
Cornelia De Lange Syndrome
Joint stiffness, Failure to thrive, Clinodactyly of the 5th finger, Intrauterine growth retardati... ORPHA:199
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Autosomal Dominant Robinow Syndrome
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Severe short stature, Short stature, Micro... ORPHA:3107
Smith-Lemli-Opitz Syndrome
Growth delay, 2-3 toe syndactyly, Split hand, Short stature, Micrognathia, Brachydactyly, Ulnar d... ORPHA:818
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Short ribs, Micrognathia, Micromelia, Abnormal pelvis ... ORPHA:93271
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
C Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Short stature, Micrognathia, Micromelia, ... ORPHA:1308
Peters Plus Syndrome
Short toe, Clinodactyly of the 5th finger, Disproportionate short-limb short stature, Short statu... ORPHA:709
8Q24.3 Microdeletion Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Microretrognathia, Abnormal cric... ORPHA:508488
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Fasting hypoglycemia, Recurrent... ORPHA:508
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Hyperglycemia, Diabetes mellitus OMIM:600001
Scorpion Envenomation
Glycosuria, Hyperglycemia ORPHA:466677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987

Histopathology

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

There is no histopathology data for Rgs10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rgs10.

No publications found that use IMPC mice or data for Rgs10.

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