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Gene: Bbs9 MGI:2442833

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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:
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
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Obesity 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, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... ORPHA:3408
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... 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
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia OMIM:613618
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Tapered finger, Obesity, Short foot, Pes cavus OMIM:309585
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma ORPHA:2206
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Abnormality of the ankle, Finger joint hypermobility, Genu valgum ORPHA:436141
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Summitt Syndrome
Syndactyly, Obesity OMIM:272350
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Distal Arthrogryposis Type 1
Rocker bottom foot, Camptodactyly of finger, Talipes, Ulnar deviation of finger, Abnormal hip bon... ORPHA:1146
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly OMIM:300577
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... ORPHA:1802
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Toe syndactyly, Pes cavus, Obesity ORPHA:217377
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615983
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Postaxial hand polydactyly, Obesity, Short finger, Broad thumb OMIM:300209
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Adenocarcinoma Of The Esophagus
Obesity, Clinodactyly of the 5th toe ORPHA:99976
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... ORPHA:2928
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Shox-Related Short Stature
Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb un... ORPHA:314795
Acromegaloid Facial Appearance Syndrome
Tapered finger, Large for gestational age, Micrognathia, Large hands, Short 5th metacarpal OMIM:102150
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... ORPHA:3210
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly OMIM:615984
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Tibial Hemimelia
Absent tibia OMIM:275220
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... OMIM:610797
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Pes planus, Hip contracture, Inguinal hernia, Micrognathia, Coxa valga, Advanc... OMIM:618363
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm... ORPHA:429
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Obesity OMIM:620270
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Slc35A2-Cdg
Failure to thrive in infancy, Camptodactyly of finger, Limb joint contracture, Coxa valga, Metata... ORPHA:356961
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Acromicria, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254525
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... ORPHA:2370
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615982
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ... OMIM:607143
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvi... ORPHA:1988
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormal ulnar metaphysis morphology, Small hand, Obesity ORPHA:177910
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee dislocation, D... OMIM:618395
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Weismann-Netter Syndrome
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... OMIM:616300
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Short ribs, Limb... ORPHA:1803
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Narrow pelvis bone, Short ribs, Hypoplastic pelvis, Hypoplastic iliac wing,... OMIM:187760
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Bardet-Biedl Syndrome 8
Obesity, Postaxial polydactyly OMIM:615985
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Obesity OMIM:606772
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Congenital hip dislocation, Increased body weight OMIM:614450
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Obesity, Short 5t... OMIM:618821
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Obesity, Enamel hypoplasia, Brachydactyly OMIM:612463
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... OMIM:256050
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Obesity, Cone-shaped epiphyses of the 2nd to... ORPHA:397973
Trisomy 5P
Obesity, Abnormal metacarpal morphology ORPHA:1742
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity ORPHA:141333
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly OMIM:615633
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... ORPHA:15
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Long foot, Tall stature ORPHA:85325
Bardet-Biedl Syndrome 3
Obesity, Postaxial polydactyly, Brachydactyly OMIM:600151
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254531
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Micrognathia, Obesity, Short foot, Abnormal diaphysis mo... ORPHA:3409
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty... OMIM:206920
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... OMIM:144750
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Umbilical hernia ORPHA:1035
Joubert Syndrome 32
Postaxial foot polydactyly, Postaxial hand polydactyly, Tall stature, Large for gestational age OMIM:617757
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f... OMIM:307800
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Obesity, Genu valgum, Short palm, Tall stature OMIM:300602
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... OMIM:603671
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
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
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Temple Syndrome
Small for gestational age, Micrognathia, Overweight, Flexion contracture, Small hand, Obesity, Sh... OMIM:616222
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71526
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Cone-shaped e... OMIM:614613
Laurence-Moon Syndrome
Polydactyly, Obesity OMIM:245800
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Obesity ORPHA:2183
Ataxia-Oculomotor Apraxia Type 4
Abnormal toe morphology, Distal lower limb muscle weakness, Pes cavus, Obesity ORPHA:459033
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Temple Syndrome
Small for gestational age, Small hand, Obesity, Short foot, Clinodactyly of the 5th finger ORPHA:254516
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial foot polydactyly, Y-shaped ... OMIM:615996
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb... ORPHA:3035
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Clinodactyly of the 5th finger, Increased body weight, 2-3 toe syndactyly, Tapered finger ORPHA:589905
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly, Tall stature OMIM:618089
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Bardet-Biedl Syndrome 21
Overweight, Postaxial hand polydactyly, Obesity OMIM:617406
Moebius Syndrome
Syndactyly, Pes planus, Brachydactyly, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... OMIM:157900
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... ORPHA:3429
Bardet-Biedl Syndrome 6
Syndactyly, Obesity, Postaxial polydactyly OMIM:605231
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Flexion contracture, Small hand... OMIM:615547
Occipital Horn Syndrome
Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Aplastic clavic... ORPHA:198
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Pde4D Haploinsufficiency Syndrome
Pes planus, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Micrognathia, Shor... ORPHA:439822
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Large for gestational age, Metaphyseal widening, Broad fi... OMIM:239850
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... OMIM:228520
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... OMIM:201000
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... OMIM:166210
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Micrognathia, Small hand, Obesity, Short foot, Truncal obesity, Clinod... ORPHA:96184
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Long hallux, Tapered finger OMIM:619854
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Micrognathia, Overgrowth, Umbilical hernia OMIM:618272
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... OMIM:123000
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Osteogenesis Imperfecta, Type V
Pes planus, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Ante... OMIM:610967
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head, Obesity OMIM:616629
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val... OMIM:615630
Retinitis Pigmentosa 51
Polydactyly, Obesity OMIM:613464
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Pes planus, Broad hallux, Increased body weight, 2-3 toe syndactyly, Short foot OMIM:300860
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippli... OMIM:222765
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Hip dysplasia, Camptodactyly, Failure to thrive, Hemihy... ORPHA:412035
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Hip dysplasia, Limb undergrowth, Clinodactyly of the 5th fin... ORPHA:319675
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Obesity, Short finger, Enamel hypoplasia, Brachyda... OMIM:103580
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... OMIM:620072
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... OMIM:260660
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pelvic girdle bone morphology,... ORPHA:1133
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbili... ORPHA:226313
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones OMIM:607634
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... ORPHA:1422
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... OMIM:200980
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cac... ORPHA:85293
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Smith-Magenis Syndrome
Pes planus, Brachydactyly, Increased body weight, Short palm OMIM:182290
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Small hand, Short clavicles, Tapered finger ORPHA:401923
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... ORPHA:1827
Momo Syndrome
Large for gestational age, Obesity, Femoral bowing, Large hands, Short sternum, Overgrowth, Conge... ORPHA:2563
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Obesity, Enamel hypoplasia, Brachydactyly OMIM:612462
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty... OMIM:224690
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal dental enamel morphology, Tapered finger, ... ORPHA:1452
Camurati-Engelmann Disease
Pes planus, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna... ORPHA:1328
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormal pelvic girdle bone morphology OMIM:166600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Otopalatodigital Syndrome Type 2
Omphalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodacty... ORPHA:90652
Harrod Syndrome
Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Failure to thrive, Arachnod... ORPHA:2115
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... ORPHA:3138
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Failure to thrive, Umbilical hernia, Large for gestational age OMIM:614520
Hydrolethalus Syndrome 1
Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Sotos Syndrome
Pes planus, Long metacarpals, Increased body weight, Genu valgum, Long phalanx of finger, Large h... OMIM:117550
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Pruritic Urticarial Papules And Plaques Of Pregnancy
Abnormality of the plantar skin of foot, Increased body weight ORPHA:64745
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... ORPHA:175
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th f... OMIM:619269
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Pes planus, Short metacarpal, Epiphyseal dysplasia, Bowed humerus, Tarsal syno... OMIM:272460
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Obesity ORPHA:110
Narcolepsy 7
Obesity OMIM:614250
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology, Inguinal hernia OMIM:600057
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Small hand, Increased body weight, Short foot, Hip dysplasia, Abdominal obes... ORPHA:398069
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity, Pedal edema ORPHA:86816
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibia... ORPHA:500095
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... ORPHA:1112
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Thauvin-Robinet-Faivre Syndrome
Pes planus, Inguinal hernia, Bowing of the legs, Large for gestational age, Pedal edema, Large ha... OMIM:617107
Faciocardiomelic Syndrome
Large for gestational age, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Insulinoma
Increased body weight ORPHA:97279
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Preaxial foot pol... OMIM:619471
Aromatase Deficiency
Eunuchoid habitus, Delayed epiphyseal ossification, Obesity, Genu valgum, Tall stature ORPHA:91
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Inguinal hernia, Broad distal phalanges of a... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopa... OMIM:300373
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... OMIM:619297
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Dorsocervical fat pad, Increased body weight ORPHA:189427
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t... OMIM:214800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight 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
Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxa... ORPHA:444077
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Cushing Disease
Dorsocervical fat pad, Increased body weight, Pedal edema, Truncal obesity, Abdominal obesity ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Increased body weight, Pedal edema, Weight loss, Truncal obesity, Abdomina... ORPHA:99889
Carney Complex
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature 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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