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Gene: Rgs10 MGI:1915115

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
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
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
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
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ... ORPHA:2204
Pseudoachondroplasia
Irregular acetabular roof, Limited hip extension, Distal joint laxity, Generalized joint laxity, ... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Abnormality of radial e... ORPHA:166002
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli... ORPHA:2632
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Essential Fructosuria
Hyperglycemia ORPHA:2056
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... ORPHA:177
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... OMIM:122860
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... ORPHA:2639
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Short stature, Micrognathia, Capitate-hamate fusion, Short to... OMIM:614078
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Laron Syndrome
Limb undergrowth, Delayed menarche, Severe short stature, Short long bone OMIM:262500
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia ORPHA:93283
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Flat acetabular... ORPHA:163649
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Osteoarthritis, Short toe, Abnormal femur mo... ORPHA:429
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... ORPHA:156728
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... OMIM:614856
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... ORPHA:85184
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm ORPHA:168555
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Craniosynostosis, Th... OMIM:259700
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Severe short stature, Bowing of the long bones, ... ORPHA:1240
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Femur-Fibula-Ulna Complex
Finger syndactyly, Short humerus, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... OMIM:619489
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Osteoporosis, C... OMIM:184260
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Osebold-Remondini Syndrome
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... OMIM:112910
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d... ORPHA:85170
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet... OMIM:256050
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyse... OMIM:300863
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia ORPHA:1277
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Disproportiona... ORPHA:1801
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o... ORPHA:2635
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A... ORPHA:2928
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro... OMIM:609616
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... ORPHA:2631
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Dis... OMIM:224300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Micromelia, Co... ORPHA:63446
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Growt... OMIM:611490
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... ORPHA:1782
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... OMIM:617306
Ulna Hypoplasia-Intellectual Disability Syndrome
Broad hallux phalanx, Hypoplasia of the ulna, Severe short stature, Micromelia, Joint stiffness, ... ORPHA:2249
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... ORPHA:1842
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, Short proximal p... ORPHA:15
Acrocephalopolydactyly
Limb undergrowth, Brachydactyly, Short long bone, Hepatosplenomegaly ORPHA:221054
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Disproportionate short stature, Joint hyperflexibility... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... OMIM:602557
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Short stature, Recurr... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Prematur... ORPHA:93352
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Hypoplastic iliac wing, G... ORPHA:763
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... OMIM:239000
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... OMIM:600972
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Iliac crest serration, Micromelia, Small for gestational age, Postnatal growth ret... OMIM:613320
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly OMIM:273680
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,... OMIM:618961
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... ORPHA:168549
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of... ORPHA:2633
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... ORPHA:474
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... ORPHA:1836
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short stature, Micromelia, Short metatarsal, Small hand, Short foot... OMIM:180870
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Abnormal epi... ORPHA:1798
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Short stature, Rhizomelia, Craniosynostosis, Micrognathia, Mic... ORPHA:93329
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Severe short stature, Micrognathia, High iliac wing, Osteopetrosi... ORPHA:2780
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... OMIM:249700
Odontochondrodysplasia
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp... ORPHA:166272
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... ORPHA:1427
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... ORPHA:2634
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Increased skull ossificatio... ORPHA:1422
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... ORPHA:93324
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short stature, Microg... OMIM:259720
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... OMIM:608940
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot, Intraute... ORPHA:254525
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Micrognathia, Metap... OMIM:224400
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Achondrogenesis Type 1B
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... ORPHA:93298
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli... OMIM:608747
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren... OMIM:616897
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Pycnodysostosis
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... OMIM:265800
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Short stature, Micromelia, Obesity, Genu valgum, Joint hyperflexibility ORPHA:1035
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifica... ORPHA:93299
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars... OMIM:617102
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... OMIM:617604
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... OMIM:241500
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Mesomelia-Synostoses Syndrome
Brachydactyly, Short stature, Micromelia, Joint stiffness, Micrognathia, Abnormality of the humer... ORPHA:2496
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Severe short stature, Short stature, Small for gestational age, T... OMIM:127000
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Craniosynostosis, Postnatal growth retar... OMIM:614732
Hall-Riggs Syndrome
Short stature, Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphy... ORPHA:2107
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Desmosterolosis
Increased bone mineral density, Severe short stature, Micromelia, Micrognathia, Metatarsus adduct... ORPHA:35107
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Intraut... ORPHA:2145
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia ORPHA:85173
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... OMIM:119600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... ORPHA:453510
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Failure to thrive, Camptodactyly of fin... ORPHA:90652
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... OMIM:171480
Achondrogenesis
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... ORPHA:932
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... OMIM:211750
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased calvarial ossification, Dispro... ORPHA:2772
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... OMIM:108720
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Broad long bones, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic... ORPHA:1865
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short stature, Shoulder fl... OMIM:255800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Mesomelic Dysplasia, Savarirayan Type
Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypopla... ORPHA:2491
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... ORPHA:950
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... ORPHA:2176
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Hip dislocation, Neutropenia, Limb undergrowth, Intrauterine growth re... OMIM:618005
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Small hand... ORPHA:1597
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
12Q14 Microdeletion Syndrome
Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th ... ORPHA:94063
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... ORPHA:800
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Microgna... OMIM:618150
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Abnormal carpal morphology, Obesity, Severe postnatal growth retardation, Hip dysp... ORPHA:319675
Osteoglophonic Dysplasia
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Pseudoarthr... OMIM:166250
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... ORPHA:2655
Werner Syndrome
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O... ORPHA:902
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... OMIM:612813
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia, Micrognathia ORPHA:1237
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... ORPHA:3429
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor... ORPHA:2658
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Small hand, Short foot, Severe... OMIM:241410
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri... ORPHA:1860
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Cone-shaped... ORPHA:3121
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia... OMIM:259775
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue histiocytosis, ... OMIM:230600
Hypertrichosis Cubiti
Joint hyperflexibility, Severe short stature, Rhizomelia, Micromelia ORPHA:2220
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Short stature, Sandal gap, Prominent delt... OMIM:619636
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Hy... OMIM:611717
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... OMIM:259730
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Short metacarpal, Short stature, Short fifth metatarsal, Short me... ORPHA:79444
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Short tibia, Humeroradial synostosis, A... OMIM:251230
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa... OMIM:271510
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate shor... OMIM:602875
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Sclerosis of ... ORPHA:2905
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... OMIM:619135
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Short metacarpal, Short stature, Short fifth metatarsal, Broad 1s... ORPHA:79443
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Wide anterio... OMIM:225410
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Short stature ORPHA:1861
Sanjad-Sakati Syndrome
Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Small hand, Sho... ORPHA:2323
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Short stature, Cortical subperiosteal resorption of humeral metap... ORPHA:94089
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... OMIM:617866
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalan... ORPHA:73230
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation OMIM:618541
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ... ORPHA:175
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal... ORPHA:508533
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho... ORPHA:35687
Pallister-Hall-Like Syndrome
Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat... OMIM:241800
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Mesomelic short stature, Aplasia/Hypoplas... ORPHA:1765
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe... OMIM:224410
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... OMIM:618162
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... OMIM:613848
Pelviscapular Dysplasia
Short femur, Short stature, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, H... ORPHA:93333
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Micromelia... ORPHA:2616
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short stature, Bowing of the long bones, Microme... OMIM:614091
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, 2-3 toe s... OMIM:618870
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Small hand, Growth delay, Short foot, Short palm, Intrauterine growth... ORPHA:238750
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Short stature, Broad hallux, Micromelia, Sandal gap, Postnatal growth retardation, Hy... OMIM:614800
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Acrofrontofacionasal Dysostosis
Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology,... ORPHA:1784
Thanatophoric Dysplasia Type 2
Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphy... ORPHA:93274
Gm1 Gangliosidosis
Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hepatosplenomegaly, Weight... ORPHA:354
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of... OMIM:271665
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Short stature, Recurrent fra... ORPHA:3206
Desmosterolosis
Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equino... OMIM:602398
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Disproportionate short stature, Coxa vara, Joint hyperflexibility, Narrow pelvis bone... ORPHA:2637
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Intrauterine growth retardation, Flexion contracture, Small for gestational age ORPHA:79243
Dpm1-Cdg
Sandal gap, Micrognathia, Hepatosplenomegaly, Knee flexion contracture, Camptodactyly, Limb under... ORPHA:79322
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... ORPHA:33364
Cole Disease
Hyperglycemia OMIM:615522
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly ORPHA:171866
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune throm... ORPHA:1855
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anterior fontanel,... ORPHA:2021
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
Slc39A8-Cdg
Osteopenia, Short stature, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contract... ORPHA:468699
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas... ORPHA:3144
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Short stature, Recurrent fractures, Rhizomelia, Micromelia, Mult... OMIM:610682
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Abnormal ... ORPHA:2879
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Micromelia, Camptodactyly OMIM:610015
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Atypical Werner Syndrome
Sclerosis of hand bone, Short palm, Increased bone mineral density, Failure to thrive, Short stat... ORPHA:79474
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ... OMIM:617809
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Short stature, Micrognathia, Partial duplication of thumb phalanx, Partial duplica... OMIM:616331
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short s... OMIM:616482
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Splenomegaly, Short toe, Short foot,... OMIM:269860
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Short stature, Micromelia, Hypoplastic scapulae ORPHA:79107
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Micromelia ORPHA:64755
Robinow Syndrome, Autosomal Recessive 2
Short stature, Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent finger... OMIM:618529
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb undergrowth, Intr... OMIM:616541
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... OMIM:268310
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postnatal growth retardation, Wide distal femoral metaphysis, Po... OMIM:269150
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Micrognathia, Meso... ORPHA:1908
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Sho... ORPHA:355
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Brachydactyly ORPHA:1318
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Osteopetrosis, A... OMIM:612301
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... ORPHA:488434
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... ORPHA:667
Kagami-Ogata Syndrome
Micrognathia, Coxa valga, Long fingers, Splenomegaly, Flexion contracture, Limb undergrowth OMIM:608149
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Clinodactyly of the... ORPHA:2636
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short stature, Failure to thrive in infancy, Postnatal ... ORPHA:261323
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... OMIM:269500
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Short stature, Overlapping toe, Small for gestational age, Microcytic anemia, Leuko... ORPHA:99843
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly OMIM:600092
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... ORPHA:666
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Failure to thrive, Micromelia, Adducted thumb ORPHA:50810
Ellis Van Creveld Syndrome
Failure to thrive, Micromelia, Capitate-hamate fusion, Acute leukemia, Genu valgum, Abnormal pelv... ORPHA:289
Schisis Association
Small for gestational age, Micromelia ORPHA:63862
Kinsship Syndrome
Osteopenia, Short stature, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydac... OMIM:619297
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Orofaciodigital Syndrome Type 2
Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first ... ORPHA:2751
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... ORPHA:2671
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial hand polydactyly... OMIM:146510
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... OMIM:263650
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Osteoporosis, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Cl... ORPHA:488632
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Short stature, Recurrent fractures, Micrognathia, Thrombocytopenia, Leukopenia, Ell... ORPHA:2785
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... OMIM:612651
Cornelia De Lange Syndrome 1
Short stature, Micromelia, Micrognathia, Proximal placement of thumb, Hypoplasia of the radius, E... OMIM:122470
Mosaic Trisomy 9
Camptodactyly of finger, Micromelia, Micrognathia, Asplenia, Rocker bottom foot, Limitation of jo... ORPHA:99776
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Short stature, Down-slop... ORPHA:904
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Flexion contracture, Talipes equinovarus, Neonatal death, Limb undergrowth OMIM:619124
Dend Syndrome
Hyperglycemia ORPHA:79134
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly ORPHA:3015
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Diabetes mellitus ORPHA:465508
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Short stature, Micr... OMIM:180700
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Hydrolethalus
Postaxial hand polydactyly, Micromelia, Micrognathia ORPHA:2189
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... OMIM:256520
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto... ORPHA:3404
Chromosome 14Q11-Q22 Deletion Syndrome
Proportionate short stature, Micrognathia, Growth delay, Mesomelia, Failure to thrive, Hip sublux... OMIM:613457
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of... OMIM:616894
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Orofaciodigital Syndrome Type 4
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... ORPHA:2753
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Camptodactyly of finger, ... ORPHA:1507
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Small for gestational age, Mi... ORPHA:97360
8Q24.3 Microdeletion Syndrome
Joint laxity, Microretrognathia, Infancy onset short-trunk short stature, Short femur, Short stat... ORPHA:508488
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Microretrogn... OMIM:270400
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Polysplenia, Craniosynostosis, Micromelia OMIM:200995
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Short stature, Rhizomelia, Craniosynostosis, Micrognathia, Splenomegaly... OMIM:613610
Cornelia De Lange Syndrome
Toe syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Joint stiffness, Microgna... ORPHA:199
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Severe short stature, Short stature, Camptodactyly of finger, Micromelia, Micr... ORPHA:3107
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Short stature, Proximal placement of thumb, Micrognathia, Postaxia... ORPHA:818
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs OMIM:616546
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... ORPHA:93271
C Syndrome
Toe syndactyly, Short stature, Failure to thrive in infancy, Micromelia, Micrognathia, Limitation... ORPHA:1308
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Postnatal growth retardation... ORPHA:709
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... ORPHA:508
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
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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