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Gene: Bbs9 MGI:2442833

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
Bardet-Biedl syndrome 9
Synonyms:
EST 3159894,  E130103I17Rik

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 Bbs9 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.

The table below shows human diseases associated to Bbs9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Obesity, Polydactyly, Postaxial polydactyly, Brachydactyly, Truncal o... OMIM:615986
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Obesity, Postaxial polydactyly, Tali... ORPHA:110

The table below shows human diseases predicted to be associated to Bbs9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly ORPHA:1078
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga OMIM:613618
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Pes cavus, Pes planus, Short foot, Tapered finger OMIM:309585
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma ORPHA:2206
Bardet-Biedl Syndrome 14
Obesity, Polydactyly OMIM:615991
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Genu valgum, Finger joint hypermobility, Obesity, Abnormality of the ankle ORPHA:436141
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Short foot OMIM:300577
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... ORPHA:1802
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Obesity, Short 4th met... ORPHA:79445
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Microduplication Xp11.22P11.23 Syndrome
Obesity, Toe syndactyly, Pes planus, Pes cavus ORPHA:217377
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Simpson-Golabi-Behmel Syndrome, Type 2
Broad thumb, Short finger, Obesity, Inguinal hernia, Postaxial hand polydactyly OMIM:300209
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Obesity ORPHA:99976
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Shox-Related Short Stature
Obesity, Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb unde... ORPHA:314795
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Large for gestational age, Micrognathia, Large hands, Tapered finger OMIM:102150
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Bardet-Biedl Syndrome 22
Obesity, Postaxial foot polydactyly, Large for gestational age, Polydactyly OMIM:617119
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Obesity, Syndactyly, Tapered finger OMIM:618725
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Tall stature, Obesity, Genu valgum, Short 4th metacar... ORPHA:3210
Osteogenesis Imperfecta, Type Xxiii
Shallow acetabular fossae, Genu valgum, Broad femoral head, Truncal obesity, Hip dislocation, Bow... OMIM:620639
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, S... ORPHA:968
Bardet-Biedl Syndrome 7
Clinodactyly, Obesity, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Tibial Hemimelia
Absent tibia OMIM:275220
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Obesity, Hip con... OMIM:618363
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Broad foot,... OMIM:250420
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Fail... ORPHA:356961
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ... ORPHA:429
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Clinodactyly, Obesity, Micrognathia, Acromicria, Short foot ORPHA:254525
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Short humerus, Short ribs, Talipes equino... OMIM:607143
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Nephronophthisis 15
Obesity, Polydactyly OMIM:614845
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Short foot, Abnormal ulnar metaphysis morphology, Obesity ORPHA:177910
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Knee dislocation, Obesity, Carpal bone hypoplasia, Pes planus, Hypoplasia of ... OMIM:618395
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Slender build, Hypoplastic pelvis, Short ribs, Metaphyseal widening, Narr... OMIM:187760
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Limb undergrowth, Diaphyseal und... ORPHA:1803
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Obes... ORPHA:65759
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Obesity OMIM:615985
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Bardet-Biedl Syndrome 2
Obesity, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615981
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Congenital hip dislocation, Omphalocele, Increased body mass index OMIM:614450
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Prominent fingertip pads, Short thumb, Obesity, Micrognathia, Patel... OMIM:618821
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... OMIM:256050
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Brachydactyly, Short metatarsal, Short metacarpal OMIM:612463
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Obesity, Cone-shaped epiphysis OMIM:606772
Trisomy 5P
Obesity, Abnormal metacarpal morphology ORPHA:1742
Achondroplasia
Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Knee joint hypermobility, Narrow grea... ORPHA:15
Biemond Syndrome Type 2
Obesity, Preaxial polydactyly ORPHA:141333
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp... ORPHA:2502
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of the toes, ... ORPHA:397973
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Obesity, Brachydactyly, Short long bone OMIM:615633
X-Linked Intellectual Disability, Stevenson Type
Long foot, Tall stature, Obesity, Genu valgum, Large hands, Tapered finger ORPHA:85325
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Obesity, Brachydactyly OMIM:600151
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Obesity, Polydactyly, Postaxial polydactyly, Brachydactyly, Truncal o... OMIM:615986
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Micrognathia, Short foot ORPHA:254531
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Obesity, Pes cavus, Abnormal toe morphology ORPHA:459033
Joubert Syndrome 32
Tall stature, Large for gestational age, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Umbilical hernia, Obesity, Genu valgum, Arachnodactyly ORPHA:1035
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Clark-Baraitser syndrome
Genu recurvatum, Tall stature, Obesity, Genu valgum, Short palm, Tapered finger OMIM:300602
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Umbilical hernia, Micrognathia, Short hu... OMIM:258315
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Temple Syndrome
Small hand, Clinodactyly, Obesity, Micrognathia, Truncal obesity, Flexion contracture, Short foot... OMIM:616222
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Obesity, Brachydactyly, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue ORPHA:71526
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Laurence-Moon Syndrome
Obesity, Polydactyly OMIM:245800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Obesity ORPHA:2183
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Temple Syndrome
Small hand, Obesity, Clinodactyly of the 5th finger, Short foot, Small for gestational age ORPHA:254516
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia... OMIM:618022
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... OMIM:210720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Postaxial polydactyly, Y-shaped ... OMIM:615996
Bardet-Biedl Syndrome 21
Obesity, Overweight, Postaxial hand polydactyly OMIM:617406
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
2-3 toe syndactyly, Clinodactyly of the 5th finger, Increased body weight, Tapered finger ORPHA:589905
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Small hand, Clinodactyly, Sandal gap, Tall stature, Obesity, Pes planus, Short foot, Tapered finger OMIM:618089
Occipital Horn Syndrome
Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip dislocation, ... ORPHA:198
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Clinodactyly, Failure to thrive in infancy, Obesity, Brachydactyl... OMIM:615547
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Obesity, Syndactyly OMIM:605231
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f... ORPHA:439822
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Large for gestational a... OMIM:239850
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ... OMIM:228520
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg... OMIM:201000
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Epiphyseal stippling, Small for gestational age OMIM:274300
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Small ... OMIM:166210
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... OMIM:263520
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Clinodactyly, Obesity, Micrognathia, Truncal obesity, Short foot, Small for gestation... ORPHA:96184
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Obesity, Tapered finger OMIM:619854
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Micrognathia, Inguinal hernia, Overgrowth OMIM:618272
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial head dislocati... OMIM:610967
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro... OMIM:222765
Retinitis Pigmentosa 51
Obesity, Polydactyly OMIM:613464
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Senior-Loken Syndrome 9
Polydactyly, Obesity, Hypoplasia of the femoral head OMIM:616629
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs OMIM:114000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Genu valgum, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly, Con... OMIM:615630
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Increased body weight, 2-3 toe syndactyly, Pes planus, Short foot OMIM:300860
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Polydactyly, Brachydactyly, Post... OMIM:615994
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, Hemihy... ORPHA:412035
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of... ORPHA:319675
Pseudohypoparathyroidism, Type Ia
Short toe, Short finger, Obesity, Enamel hypoplasia, Brachydactyly, Short metatarsal, Short metac... OMIM:103580
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu valgum, Micrognathia, Pes planus,... OMIM:620072
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Joint contracture of the hand, Hypoplastic iliac wing, Fibular ... OMIM:260660
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphology, Cachexia, Brachydactyl... ORPHA:1133
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Large for gesta... ORPHA:226313
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... OMIM:200980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Obesity, Pes cavus, Inguinal her... ORPHA:85293
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Small hand, Overweight, Tapered finger ORPHA:401923
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Midline central ... ORPHA:1827
Smith-Magenis Syndrome
Increased body weight, Pes planus, Brachydactyly, Short palm OMIM:182290
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Momo Syndrome
Long foot, Tall stature, Obesity, Femoral bowing, Large for gestational age, Short sternum, Overg... ORPHA:2563
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology OMIM:607634
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Brachydactyly, Short metatarsal, Short metacarpal OMIM:612462
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly OMIM:615989
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... ORPHA:1452
Meier-Gorlin Syndrome 1
Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia... OMIM:224690
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... ORPHA:1328
Retinitis Pigmentosa 74
Obesity, Polydactyly OMIM:616562
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... OMIM:277170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Inguinal hernia, P... OMIM:181450
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Fractures of the long bones OMIM:166600
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Umbilical hernia, Failure to thrive, Syndactyly OMIM:614520
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Failure to thrive, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Harrod Syndrome
Arachnodactyly, Abnormal pelvic girdle bone morphology, Failure to thrive, Abnormal shoulder morp... ORPHA:2115
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Obesity, Postaxial hand pol... ORPHA:3138
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Cartilage-Hair Hypoplasia
Small hand, Abnormal pelvic girdle bone morphology, Rhizomelia, Micromelia, Abnormal diaphysis mo... ORPHA:175
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Sotos Syndrome
Long metacarpals, Long foot, Tall stature, Genu valgum, Increased body weight, Overgrowth, Pes pl... OMIM:117550
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Joint contracture of the 5th finger OMIM:619562
Pruritic Urticarial Papules And Plaques Of Pregnancy
Abnormality of the plantar skin of foot, Increased body weight ORPHA:64745
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Short toe, Obesity, Clinodactyly of the 5th finger, Short phalanx of f... OMIM:619269
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... OMIM:272460
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology, Inguinal hernia OMIM:600057
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Large for gestational age, Abno... ORPHA:500095
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Failure to thrive, Increased body weight, Abdominal obesity, Flexion contracture, Sho... ORPHA:398069
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age, Pedal edema ORPHA:86816
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Narcolepsy 7
Obesity OMIM:614250
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Thauvin-Robinet-Faivre Syndrome
Long foot, Long hallux, Tall stature, Large for gestational age, Inguinal hernia, Overgrowth, Pes... OMIM:617107
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand pol... OMIM:619471
Faciocardiomelic Syndrome
Slender long bone, Large for gestational age, Micrognathia, Hypoplastic pelvis, Polydactyly OMIM:612731
Insulinoma
Increased body weight ORPHA:97279
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Aromatase Deficiency
Delayed epiphyseal ossification, Tall stature, Obesity, Genu valgum, Eunuchoid habitus ORPHA:91
Kinsship Syndrome
Failure to thrive, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Disloca... OMIM:619297
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Failure to thrive, Fibular aplasia, Micrognathia, Fibular hypoplas... OMIM:300373
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Dorsocervical fat pad, Abdominal obesity ORPHA:189427
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Charge Syndrome
Bifid femur, Short thumb, Umbilical hernia, Micrognathia, Down-sloping shoulders, Hand polydactyl... OMIM:214800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Hypoplasia of proximal radius, Obesity, Micrognathia, Fibular hypoplasia, Brachydacty... ORPHA:444077
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Cushing Disease
Dorsocervical fat pad, Increased body weight, Truncal obesity, Abdominal obesity, Pedal edema ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Obesity, Postaxial polydactyly, Tali... ORPHA:110
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Pe... ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Dorsocervical fat pad, Abdominal obesity ORPHA:1359

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 Bbs9

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 Bbs9.

No publications found that use IMPC mice or data for Bbs9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bbs9em1(IMPC)Bay Exon Deletion Mice
Bbs9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Bbs9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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