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:
N/A

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
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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, Hyperglycemia, Type II diabetes mellitus 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
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibiofibular diast... ORPHA:566943
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Severe short stature,... OMIM:250460
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Short stature, Joint contracture of the hand, Os... OMIM:264010
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Disproportionate short stature, Abnormality of epiph... ORPHA:2501
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short stature, Postnatal growth ... OMIM:618728
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplastic frontal si... ORPHA:90650
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Short stature, Dela... OMIM:601561
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormality of epiphysis ... ORPHA:628
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Absent frontal sinuses, Brachydactyly, In... OMIM:265800
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Abnormal cartilage morpho... ORPHA:93284
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epiphyses of the elbow, Frag... ORPHA:166002
Greenberg Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Rhizomelia, Anterior rib punctate calcifi... ORPHA:1426
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Disproportionate short-limb ... ORPHA:93351
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Short Stature-Obesity Syndrome
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydac... OMIM:269870
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, Limb undergr... ORPHA:177
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Limb undergrowth, Short stature, Brachydactyly, Micromelia OMIM:122900
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Short stature, Diaphy... OMIM:122860
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Abn... ORPHA:1263
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, D... OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Decreased body weight, Increased bone ... OMIM:614856
Albers-Schönberg Osteopetrosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized osteosclerosis... ORPHA:53
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Disproportionate short stature, Joint laxity, Metaphyseal irregularity, Cen... OMIM:602557
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Laron Syndrome
Short long bone, Severe short stature, Limb undergrowth, Delayed menarche OMIM:262500
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Recurrent fractures, Generalized os... ORPHA:210110
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Proportionate short stature, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Dispr... OMIM:200700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Hypoplastic pubic bon... OMIM:151210
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Mandibular os... OMIM:166600
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Severe short st... ORPHA:1240
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Limb undergrowth, Bowing of the legs, Short stature, Disproportionate sh... ORPHA:156728
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Osteopenia, Increased bone mineral density, Abnormal diaphysis morphology... ORPHA:85184
Hypochondroplasia
Abnormality of femur morphology, Childhood onset short-limb short stature, Joint hyperflexibility... ORPHA:429
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, Pancytopenia, Th... OMIM:259700
Thoracomelic Dysplasia
Genu valgum, Disproportionate short-limb short stature, Joint hyperflexibility, Short ribs, Limb ... ORPHA:1803
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Wid... ORPHA:163649
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
Kyphomelic Dysplasia
Disproportionate short stature, Bowing of the long bones, Large hands, Flat acetabular roof, Join... ORPHA:1801
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Short stature, Micromelia ORPHA:93316
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplastic iliac win... OMIM:300863
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Short middle phalanx of finger, Hitchhiker thumb, Short greate... OMIM:256050
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Thrombocyto... ORPHA:2785
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Mesomelic short st... OMIM:184260
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Severe... ORPHA:2635
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity, Short stature, Ulnar deviation of finger, Abnormality o... ORPHA:2928
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Short 5th metacarpal, Aplasia/Hypoplasia of ... ORPHA:1350
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Acrocapitofemoral Dysplasia
Flared iliac wing, Short palm, Cone-shaped epiphysis, Coxa vara, Genu varum, Short stature, Abnor... ORPHA:63446
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Disproportionate short stature, Broa... OMIM:609616
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Mild short stature, Metaphyseal irregularity, Recurrent fractures, Coxa vara, Hypopl... ORPHA:93315
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Dysosteosclerosis
Disproportionate short stature, Sclerosis of hand bone, Absent frontal sinuses, Progressive bowin... OMIM:224300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dysosteosclerosis
Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal ... ORPHA:2631
Isolated Osteopoikilosis
Generalized osteosclerosis, Short stature ORPHA:166119
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Broad hallux phalanx, Hypoplasia of the ulna, Mesomelia, S... ORPHA:2249
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Abnormal thumb morphology, Abnormality of epiphysis morphology, Rhizo... ORPHA:1842
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia, Micromelia OMIM:273680
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Growth delay, 2-3 toe syndactyl... OMIM:616809
Acrocephalopolydactyly
Short long bone, Hepatosplenomegaly, Brachydactyly, Limb undergrowth ORPHA:221054
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal... OMIM:600972
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Joint hyperflexibility, Bowing of the long bones, Joint stiffness... ORPHA:40
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Synostosis of joints, Re... ORPHA:321
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Disproportionate short stature, Short... ORPHA:1427
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Limb undergrowth, Short ribs, Coarse metaphyseal trabecularization, Short lo... OMIM:618961
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short stature, Generalized bone demineralization, Joint laxity, Metaphyseal irre... ORPHA:93352
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Disproportionate short stature, Wide a... ORPHA:15
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Blomstrand Lethal Chondrodysplasia
Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Bowing of the long bones, ... ORPHA:50945
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Anemia, Ab... ORPHA:296
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Stillbirth, Hypoplastic scapulae, Shor... OMIM:200600
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Short foot, Small hand, Delay... OMIM:180870
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Thro... OMIM:259710
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Micromelia OMIM:601016
Acromesomelic Dysplasia, Hunter-Thompson Type
Severe short-limb dwarfism, Tarsal synostosis, Abnormally shaped carpal bones, Acromesomelia, Joi... ORPHA:968
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Osteopetrosis, High iliac wing, Severe short stature, Coarse metaphyseal trabec... ORPHA:2780
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormality of epiphysis morphology, Bowing of the long b... ORPHA:1798
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Neutropenia, Postnatal growth reta... OMIM:618150
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Shortening of all phalanges of fingers, Mesomelia, Shortening of all meta... OMIM:601356
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Rhizomelia, Abnormality of the radius, Mesomelia, Sh... ORPHA:93329
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Bowing of the long bones, Recurrent fractures, Increased bone mineral de... OMIM:239000
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelic short stature, Mesomelia, Talipe... OMIM:163400
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Stillbirth, Growth delay, Extramedullary hematopoiesis, Osteopetrosis... OMIM:259720
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm... OMIM:191440
Odontochondrodysplasia
Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, Cone-shaped epiphysis, Shor... ORPHA:166272
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Growth delay, Tooth abscess, Hypophosphate... ORPHA:289176
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive OMIM:615085
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Hypoplasia ... OMIM:249700
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Small han... ORPHA:93324
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Chondrodysplasia-Disorder Of Sex Development Syndrome
Short phalanx of finger, Increased skull ossification, Broad long bones, Severe short stature, Sh... ORPHA:1422
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Rhizomelia, Mesomelia, Small for gestational age, Osteopenia OMIM:616229
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, ... ORPHA:231144
Craniometaphyseal Dysplasia
Abnormality of the metaphysis, Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Hypo... ORPHA:2634
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, Short foot, Intrauterine grow... ORPHA:254525
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhizomelia, Metaphyseal cuppin... OMIM:608940
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Joint hyperflexibility, Sandal gap, Obesity, Short stature, Arachnodactyly, Micromelia ORPHA:1035
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Achondrogenesis Type 1B
Disproportionate short stature, Abnormal enchondral ossification, Severe short stature, Short foo... ORPHA:93298
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Achondrogenesis Type 1A
Abnormal enchondral ossification, Recurrent fractures, Severe short stature, Short foot, Microgna... ORPHA:93299
Hypophosphatasia, Infantile
Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Short ribs, ... OMIM:241500
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of tibia morphology, Abnormality of femur morphology, Synostosis of carp... ORPHA:2496
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia ORPHA:85173
Camurati-Engelmann Disease
Slender build, Genu valgum, Cortical thickening of long bone diaphyses, Increased bone mineral de... OMIM:131300
Pseudohypoparathyroidism Type 1B
Cortical subperiosteal resorption of humeral metaphyses, Increased bone density with cystic chang... ORPHA:94089
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Camptodactyly, Broad long bones, Bowing of the long bones, Short ribs, Severe short... OMIM:224400
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Severe short stature, Increased bone miner... OMIM:127000
Hall-Riggs Syndrome
Abnormality of epiphysis morphology, Limb undergrowth, Joint stiffness, Short stature, Failure to... ORPHA:2107
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Short metacar... OMIM:617604
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Micrognathia, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Sho... OMIM:616897
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Flared iliac wing, Synostosis of carpal... ORPHA:90652
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Short stature, Intrauterine growth retardation, ... ORPHA:2145
Achondrogenesis
Abnormal enchondral ossification, Severe short stature, Abnormality of bone mineral density, Micr... ORPHA:932
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Sple... OMIM:611490
Cleidocranial Dysplasia
Hypoplastic frontal sinuses, Increased bone mineral density, Increased susceptibility to fracture... OMIM:119600
Gaucher Disease Type 1
Osteolysis, Growth delay, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed... ORPHA:77259
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Wide anterior fontanel, Joint laxity, Limb undergrowth, Short stature, S... OMIM:225410
C Syndrome
Dislocated radial head, Fused sternal ossification centers, Postaxial hand polydactyly, Toe synda... OMIM:211750
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Small hand, Short foot, Mic... OMIM:241410
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly ORPHA:3352
Desmosterolosis
Growth delay, Osteopetrosis, Severe short stature, Increased bone mineral density, Metatarsus add... ORPHA:35107
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Distal Monosomy 17Q
Abnormal thumb morphology, Micromelia, Abnormality of the metacarpal bones, Small hand, Aplasia/H... ORPHA:1597
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Hip dislocation, Short stature, Short tibia, Fibular aplasia OMIM:605274
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Intrauterine growt... ORPHA:2772
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Postnatal growth retardation, Severe intrauterine growth retardation, Clinodactyly ... ORPHA:73272
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Three M Syndrome 1
Joint hypermobility, Hypoplastic pelvis, Growth delay, Short ribs, Postnatal growth retardation, ... OMIM:273750
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... ORPHA:2176
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Recurrent fractures, Limb undergrowth, Tibial bowing, Small for gestational a... ORPHA:453510
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Short humerus, Short stature, Aplasia/Hypoplasia of the u... ORPHA:2491
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Neonatal death, Syndactyly, Micrognathia OMIM:228940
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Joint hyperflexibility, Micromelia, Intrauterine growth... ORPHA:2655
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Flexion contracture, Neutropenia, Limb undergrowth, Failure to thrive, Short stature, Intrauterin... OMIM:618005
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypoplastic pubic b... ORPHA:1865
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Joint stiffness, Wrist flexio... ORPHA:800
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Abno... ORPHA:3429
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Metaphyseal cupping, Short ribs, Hypoplastic ischia, Iliac crest serration, ... OMIM:613320
12Q14 Microdeletion Syndrome
Osteopoikilosis, Clinodactyly of the 5th finger, Failure to thrive, Short stature, Intrauterine g... ORPHA:94063
Raine Syndrome
Arthrogryposis multiplex congenita, Bowing of the long bones, Increased bone mineral density, Neo... OMIM:259775
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of finger, Finger syndactyly, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis,... ORPHA:2658
Hypertrichosis Cubiti
Rhizomelia, Joint hyperflexibility, Severe short stature, Micromelia ORPHA:2220
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Postnatal growth retardation, Iliac cres... OMIM:223800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Disproportionate short-limb short stature, Short phalanx of finger, Tapered metacarpal... OMIM:611717
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria ORPHA:2089
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Limb undergrowth, Severe intrauterine growth retardation, Short stature, Abnormali... ORPHA:319675
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Microgna... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Rhizomelia, Short finger, Irregular epiphyses, Mesomelia, Metaphyseal ... OMIM:612813
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Micrognathia, Increased bone mineral density ORPHA:1237
Sponastrime Dysplasia
Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, Neutropenia... ORPHA:93357
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Sandal gap, Syndactyly, Short stature, Brachydactyly, Micromelia OMIM:614800
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Intrauterine growth retardation, Join... OMIM:615777
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Rhizomelia, Hypoplastic scapulae, Br... OMIM:166250
Ruvalcaba Syndrome
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Cone-shaped epiphysis,... ORPHA:3121
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, L... OMIM:210720
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Disproportionate sho... OMIM:260660
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short 3rd metacarpal, Short fifth metatarsal, Short metatarsal, Short 5th m... ORPHA:79444
Poems Syndrome
Clubbing of fingers, Metaphyseal sclerosis, Thrombocytosis, Sclerosis of hand bone, Polycythemia,... ORPHA:2905
Sanjad-Sakati Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Small hand, Short stature, ... ORPHA:2323
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Lipodystrophy, Familial Partial, Type 3
Hyperglycemia, Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:604367
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Wide anterior fontanel, Split hand, Hypoplastic i... ORPHA:1860
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly, Mesomelia, Scleros... OMIM:618162
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Short stature, Anemia, Hepatos... OMIM:259730
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Disproportionate short stature,... OMIM:602875
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Postnata... OMIM:304120
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Short 3rd metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short m... ORPHA:79443
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormality of the metaphysis, Short stature, Limb undergrowth ORPHA:1861
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Postnatal growth retardation, Tibial bowing, Osteomalacia... ORPHA:289157
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Mesomelia, Short distal phalanx of finger, Partial duplication of the phalanx of han... OMIM:616331
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Werner Syndrome
Slender build, Rocker bottom foot, Osteoporosis, Increased bone mineral density, Small hand, Join... ORPHA:902
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Intr... OMIM:251230
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Abnormality of the metaphysis, Disproportionate short-limb short stature, Li... ORPHA:175
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Postnatal gro... ORPHA:73230
Pyknoachondrogenesis
Aplastic pubic bones, Short iliac bones, Poorly ossified vertebrae, Craniofacial hyperostosis, Ab... ORPHA:3003
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
4Q21 Microdeletion Syndrome
Toe syndactyly, Growth delay, Small hand, Short foot, Intrauterine growth retardation, Short palm... ORPHA:238750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Decreased proportion of CD4... ORPHA:508533
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Erdheim-Chester Disease
Osteolysis, Abnormality of epiphysis morphology, Weight loss, Increased bone mineral density, Ane... ORPHA:35687
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Mesomelic short stature, Aplasia/Hypoplasia of the radius, Short stature, Intraute... ORPHA:1765
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Mesomelia, Clinodactyly, Short stature, Micrognathia, Brachydactyly OMIM:618529
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, Mesomelia, Sh... OMIM:614091
3M Syndrome
Rocker bottom foot, Congenital hip dislocation, Hypoplastic pelvis, Joint hyperflexibility, Hypop... ORPHA:2616
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Broad thumb, Abnormality of epiphysis morphology, Short distal phalanx o... ORPHA:1784
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short 4th finger,... ORPHA:2756
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis OMIM:618476
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Triangular sha... OMIM:271665
Thanatophoric Dysplasia Type 2
Joint hyperflexibility, Short stature, Abnormality of the metaphysis, Brachydactyly, Limitation o... ORPHA:93274
Kyphomelic Dysplasia
Radial bowing, Short femur, Disproportionate short stature, Micrognathia, Dumbbell-shaped humerus... OMIM:211350
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Abnormality of epiphysis morphology, Joint hyperflexibility, Micr... ORPHA:2637
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Advanced tarsal ossification, Hypoplastic scapulae, Hy... ORPHA:3144
Stüve-Wiedemann Syndrome
Metaphyseal widening, Genu valgum, Camptodactyly of finger, Osteoporosis, Flexion contracture of ... ORPHA:3206
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Rhizomelia, Mesomelia, Brachydactyly ORPHA:171866
Trichothiodystrophy
Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Neutropenia, Hypoplasia of... ORPHA:33364
Fibrochondrogenesis
Camptodactyly of finger, Wide anterior fontanel, Hypoplastic scapulae, Short ribs, Abnormal diaph... ORPHA:2021
Gm1 Gangliosidosis
Camptodactyly of finger, Abnormality of epiphysis morphology, Limb undergrowth, Weight loss, Coar... ORPHA:354
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Limited elbow extension, Finger joint hypermobility, Joint laxity, Microretrognathia... OMIM:618870
Osteogenesis Imperfecta, Type X
Genu valgum, Joint laxity, Generalized joint laxity, Bowing of the long bones, Short stature, Ost... OMIM:613848
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short ribs, Hip dislocation, Micrognathia, Micromelia OMIM:241800
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Osteogenesis Imperfecta, Type Vii
Protrusio acetabuli, Wide anterior fontanel, Rhizomelia, Decreased calvarial ossification, Recurr... OMIM:610682
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Limited elbow extension, Metaphyseal irregularity, Delayed ossification of carpal bo... OMIM:271510
Desmosterolosis
Arthrogryposis multiplex congenita, Rhizomelia, Generalized osteosclerosis, Failure to thrive, Jo... OMIM:602398
Spondyloenchondrodysplasia
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypoplastic ilia, Granuloma, Limb under... ORPHA:1855
Slc39A8-Cdg
Cutaneous syndactyly of toes, Craniosynostosis, Limb undergrowth, Failure to thrive in infancy, S... ORPHA:468699
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Gaucher Disease Type 3
Osteolysis, Growth delay, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed... ORPHA:77261
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Short phalanx of finger, Severe short stature, Short metacarpal OMIM:600092
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Small for gestational age, Limb undergrowth ORPHA:79243
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Short ribs, Syndactyly, Brachy... OMIM:617895
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Postprandial hyperglycemia, Hyperinsulinemia OMIM:246200
Glutamine Deficiency, Congenital
Neonatal death, Camptodactyly, Flexion contracture, Micromelia OMIM:610015
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Roberts Syndrome
Craniosynostosis, Postnatal growth retardation, Sandal gap, Wrist flexion contracture, Phocomelia... ORPHA:3103
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Gaucher Disease
Osteolysis, Arthrogryposis multiplex congenita, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth OMIM:619142
Cardioacrofacial Dysplasia 2
Genu valgum, Postaxial hand polydactyly, Limb undergrowth, Postaxial foot polydactyly, Clubbing, ... OMIM:619143
Atypical Werner Syndrome
Hip dysplasia, Rocker bottom foot, Intervertebral disc degeneration, Osteoporosis, Sclerosis of h... ORPHA:79474
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Wide anterior fontanel, Rhizomelia, Mesomelia, Severe short stature OMIM:616482
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Sclerosteosis 1
2-3 finger syndactyly, Cortically dense long tubular bones, Facial palsy secondary to cranial hyp... OMIM:269500
Short Syndrome
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postaxial hand polydactyly, Short 1st metacarpal, Short sternum,... OMIM:269150
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Limb undergrowth, Clinodactyly, Truncal obesity, Short stature, Anemia, Intrauterine... OMIM:616541
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Becker Nevus Syndrome
Abnormality of tibia morphology, Spina bifida occulta, Micromelia ORPHA:64755
Mesomelia-Synostoses Syndrome
Microretrognathia, Metacarpal synostosis, Mesomelic short stature, Mesomelia, Partial fusion of p... OMIM:600383
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Clubbing of toes, Brachydactyly, Micromelia ORPHA:1318
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Spina bifida occulta, Short foot, Osteopenia, Thickened c... ORPHA:488434
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Mesomelia, Aplasia/Hypoplasia of the thumb, Short stature, Intrauterine growth... ORPHA:1908
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Micromelia ORPHA:79107
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Postnatal growth retardation, Metatars... ORPHA:96334
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short finger, Short foot, Limb undergrowth, Short ribs, Short long bone, Ne... OMIM:269860
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Tibial dev... OMIM:268305
Kagami-Ogata Syndrome
Flexion contracture, Limb undergrowth, Splenomegaly, Micrognathia, Coxa valga, Long fingers OMIM:608149
Geleophysic Dysplasia 3
Limb undergrowth, Short stature, Short foot, Brachydactyly, Epiphyseal dysplasia OMIM:617809
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Glycosuria, Diabete... ORPHA:2088
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Abnormality of epiphysis morphology, Growth delay, Bowing of the long bones, Re... ORPHA:667
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetrosis, Anemia, Splenom... OMIM:612301
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Small ... ORPHA:666
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Wide anterior fontanel, Broad toe, ... OMIM:268310
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Adducted thumb, Failure to thrive, Micromelia ORPHA:50810
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93325
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Microcytic anemia, Leukocytosis, Limb undergrowth, Neutrophilia, Small for gesta... ORPHA:99843
Ellis Van Creveld Syndrome
Genu valgum, Hand polydactyly, Synostosis of carpal bones, Short distal phalanx of finger, Capita... ORPHA:289
Schisis Association
Small for gestational age, Micromelia ORPHA:63862
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Large hands, Oste... ORPHA:2671
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Short ribs OMIM:273730
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Broad toe, 2-3 toe syndactyly, Limb undergrowth, 11 pairs of ribs, Clinodactyly, Br... ORPHA:488632
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Bartsocas-Papas Syndrome 1
Oligodactyly, Arthrogryposis multiplex congenita, Short phalanx of finger, Micrognathia, Hypoplas... OMIM:263650
Mosaic Trisomy 9
Rocker bottom foot, Camptodactyly of finger, Finger clinodactyly, Asplenia, Intrauterine growth r... ORPHA:99776
Williams Syndrome
Osteoporosis, Genu valgum, Radioulnar synostosis, Joint laxity, Synostosis of joints, Micrognathi... ORPHA:904
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Symptomatic Form Of Hemochromatosis Type 1
Hyperglycemia, Diabetes mellitus ORPHA:465508
Kinsship Syndrome
Dislocated radial head, Polydactyly, Mesomelia, Fibular hypoplasia, Short stature, Failure to thr... OMIM:619297
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Flexion contracture, Limb undergrowth, Neonatal death, Talipes equinovarus OMIM:619124
Cornelia De Lange Syndrome 1
Dislocated radial head, Hypoplasia of the radius, Limited elbow extension, Micrognathia, Hypoplas... OMIM:122470
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Humeroradial synostosis, Micrognathia, Short sternum, Mesomelia, Short ... ORPHA:3404
Endocrine-Cerebroosteodysplasia
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Syndactyly, Micrognathia, B... OMIM:612651
Neu-Laxova Syndrome 1
Rocker bottom foot, Toe syndactyly, Stillbirth, Finger syndactyly, Camptodactyly, Limb undergrowt... OMIM:256520
Radio-Renal Syndrome
Hypoplasia of the radius, Severe short stature, Micrognathia, Brachydactyly, Short palm, Micromelia ORPHA:3015
Dend Syndrome
Hyperglycemia ORPHA:79134
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Smith-Lemli-Opitz Syndrome
Short toe, Postaxial hand polydactyly, Hip subluxation, Epiphyseal stippling, Overlapping toe, Mi... OMIM:270400
Hydrolethalus
Micrognathia, Postaxial hand polydactyly, Micromelia ORPHA:2189
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Camptodactyly, Mesomelia, Clinodactyly, Syndactyly, Short s... OMIM:616894
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:151660
Robinow Syndrome
Mesomelic arm shortening, Mesomelia, Fused thoracic vertebrae, Short distal phalanx of finger, Sy... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Broad thumb, Wide anterior fontanel, Broad toe, Rhizomelia, Mesomeli... OMIM:180700
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Cervical C5/C6 v... ORPHA:87
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Craniosynostosis, Joint laxity, Polydactyly, Rhizomelia, Polysplenia,... OMIM:613610
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Aplastic clavicle, Micromelia OMIM:616546
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Polysplenia, Postaxial hand polydactyly, Micromelia OMIM:200995
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Autosomal Dominant Robinow Syndrome
Hip dysplasia, Camptodactyly of finger, Finger syndactyly, Micrognathia, Severe short stature, Av... ORPHA:3107
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndacty... ORPHA:1507
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Cornelia De Lange Syndrome
Hip dysplasia, Oligodactyly, Toe syndactyly, Radioulnar synostosis, Micrognathia, Short 1st metac... ORPHA:199
Smith-Lemli-Opitz Syndrome
Postaxial hand polydactyly, Finger syndactyly, Split hand, Rhizomelia, 2-3 toe syndactyly, Growth... ORPHA:818
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Postaxial hand polydactyly, Preaxial hand polydactyly, Disproportionate short-limb short stature,... ORPHA:93271
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
C Syndrome
Dislocated radial head, Toe syndactyly, Hand polydactyly, Micrognathia, Failure to thrive in infa... ORPHA:1308
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Short hallux, Rocker bottom foot, Short femur, Congenital hip dislocation, Joint l... ORPHA:508488
Peters Plus Syndrome
Toe syndactyly, Micrognathia, Rhizomelia, Short foot, Postnatal growth retardation, Intrauterine ... ORPHA:709
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Scorpion Envenomation
Hyperglycemia, Glycosuria 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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