Not currently registered for phenotyping at IMPC

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

Gene Summary

Bardet-Biedl syndrome 9 (human)
EST 3159894,  E130103I17Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Upington Disease
Arthralgia of the hip, Flat capital femoral epiphysis, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology, Obesity ORPHA:1078
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Coxa valga, Talipes equinovarus, Acetabular dysplasia, Genu valgum OMIM:613618
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes cavus, Tapered finger, Pes planus, Short foot, Obesity OMIM:309585
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Abnormal pelvis bone morphology, Obesity ORPHA:2206
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Abnormality of the ankle, Genu valgum, Obesity ORPHA:436141
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Increased waist to hip ratio, Obesity OMIM:601665
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal striations, Short metacarpal, Abnormal pelvic girdle bone morphology, Sho... OMIM:250460
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Beukes Hip Dysplasia
Hip dysplasia, Avascular necrosis of the capital femoral epiphysis, Irregular capital femoral epi... OMIM:142669
Summitt Syndrome
Syndactyly, Obesity OMIM:272350
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... OMIM:619217
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Distal Arthrogryposis Type 1
Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphology, Rocker bottom f... ORPHA:1146
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Short foot, Obesity OMIM:300577
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Flat distal femoral epiphysis, Broad femoral neck, Short femoral neck,... OMIM:609324
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Abnormal pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling OMIM:600121
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Pes cavus, Toe syndactyly, Obesity ORPHA:217377
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Omphalocele,... ORPHA:3329
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... ORPHA:79106
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Simpson-Golabi-Behmel Syndrome, Type 2
Short finger, Inguinal hernia, Broad thumb, Postaxial hand polydactyly, Obesity 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 metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... ORPHA:3344
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Obesity ORPHA:99976
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Micromelia, Brachydactyly, A... ORPHA:2928
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Shox-Related Short Stature
Forearm undergrowth, Obesity, Lower limb undergrowth, Micrognathia, Short foot, Genu valgum, Ulna... ORPHA:314795
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... OMIM:201170
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Apl... ORPHA:93430
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal thumb morphology, Abnormal hip bone morphology, Synost... ORPHA:2639
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Large for gestational age, Polydactyly, Obesity OMIM:617119
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Metaphyseal sclerosis, Genu varum, ... OMIM:156500
Summitt Syndrome
Camptodactyly of finger, Obesity, Finger syndactyly, Short 4th metacarpal, Brachydactyly, Tall st... ORPHA:3210
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Short 5th metacarpal, Micrognathia, Tapered finger OMIM:102150
Acromesomelic Dysplasia, Hunter-Thompson Type
Hip dislocation, Short thumb, Abnormally shaped carpal bones, Short metacarpal, Patellar dislocat... ORPHA:968
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly, Clinodactyly, Obesity OMIM:615984
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Overweight, Short thumb, Osseous finger syndactyly, Short distal ... ORPHA:370010
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Hypo... OMIM:227270
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Cone-shaped epiphysis, Brach... ORPHA:1505
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... 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
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... OMIM:610797
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Inguinal hernia, Flattened epiphysis, Truncal obesity, Advanced ossification of carpal bones, Cox... OMIM:618363
Obesity, Short metatarsal, Short distal phalanx of the thumb, Short 4th metacarpal, Short distal ... ORPHA:79445
Abnormal metaphysis morphology, Genu varum, Bowing of the long bones, Micromelia, Abnormal pelvic... ORPHA:429
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Metaphyseal cupping, Metaphyseal widening, Short ribs, Obesity, Short long bone, Meta... OMIM:250420
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Micrognathia, Clinodactyly, Acromicria, Short foot, Obesity ORPHA:254525
Camptodactyly of finger, Abnormal long bone morphology, Failure to thrive in infancy, Short tibia... ORPHA:356961
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... OMIM:268305
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... ORPHA:1106
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short ribs, Short ti... OMIM:620076
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Clinodactyly of th... ORPHA:2370
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Short ribs, Rhizomelia, Short tibia, Failure to thrive,... OMIM:607143
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71529
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Femoral-Facial Syndrome
Inguinal hernia, Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot pol... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Ulnar bowing, Coxa vara, Flared... OMIM:602111
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... ORPHA:2378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... ORPHA:2634
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar dislocation, Kn... ORPHA:56305
Grant Syndrome
Down-sloping shoulders, Tibial bowing, Micrognathia OMIM:138930
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Short foot, Small hand, Obesity ORPHA:177910
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia OMIM:258865
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot po... OMIM:609945
Coxoauricular Syndrome
Micromelia, Abnormality of femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology ORPHA:1508
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... OMIM:251230
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing OMIM:112350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... OMIM:618395
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... OMIM:616300
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short ribs, D... ORPHA:1803
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Bowing of the long bones, Abnormal hip bone morphol... ORPHA:2725
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... OMIM:608940
Thoracolaryngopelvic Dysplasia
Slender build, Metaphyseal widening, Short ribs, Hypoplastic iliac wing, Hypoplastic pelvis, Narr... OMIM:187760
Carpenter Syndrome
Polydactyly, Obesity, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly,... ORPHA:65759
Pseudohypoparathyroidism, Type Ib
Obesity, Short metacarpal, Brachydactyly OMIM:603233
Desbuquois Dysplasia 1
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... OMIM:251450
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Bardet-Biedl Syndrome 8
Obesity, Postaxial polydactyly OMIM:615985
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epip... OMIM:600785
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Micromelia, Toe syndactyly, Abnormal ... ORPHA:474
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Increased body mass index, Omphalocele, Increased body weight OMIM:614450
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Obesity OMIM:606772
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Short ribs, Postaxia... OMIM:613091
Short metatarsal, Short metacarpal, Enamel hypoplasia, Brachydactyly, Obesity OMIM:612463
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Flat acetabular roof, Micro... OMIM:256050
Rhizomelic Limb Shortening With Dysmorphic Features
Clinodactyly of the 3rd finger, Short thumb, Rhizomelia, Patellar dislocation, Short 5th finger, ... OMIM:618821
Trisomy 5P
Abnormal metacarpal morphology, Obesity ORPHA:1742
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Equinovarus deformity, ... ORPHA:2502
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology, Obesity ORPHA:2233
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 2nd toe, Cone-s... ORPHA:397973
Biemond Syndrome Type 2
Obesity, Preaxial polydactyly ORPHA:141333
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Eiken Syndrome
Broad metatarsal, Clinodactyly, Decreased body weight, Flattened epiphysis, Long thumb, Flat acet... OMIM:600002
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... OMIM:119800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Obesity, Short long bone, Postaxial polydactyly OMIM:615633
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Abnormal iliac wing morphology, Hip joint hypermobility, Knee joint hypermobility, Limb undergrow... ORPHA:15
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obesity, Syndact... OMIM:615986
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Micrognathia, Clinodactyly, Short foot, Obesity ORPHA:254531
Bardet-Biedl Syndrome 3
Brachydactyly, Obesity, Postaxial polydactyly OMIM:600151
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Obesity, Abno... ORPHA:3409
Endosteal Hyperostosis, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Metatarsal diaphyseal endosteal sclerosis, Thickened cort... OMIM:144750
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Micromelia, Arachnodactyly, Sandal gap, Genu valgum, Obesity ORPHA:1035
X-Linked Intellectual Disability, Stevenson Type
Long foot, Tapered finger, Tall stature, Genu valgum, Obesity ORPHA:85325
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Enamel hypomineralization, Trapezoidal distal femoral condyles, Abn... OMIM:307800
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Joubert Syndrome 32
Tall stature, Postaxial foot polydactyly, Postaxial hand polydactyly, Large for gestational age OMIM:617757
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Tall stature, Short palm, Genu valgum, Obesity OMIM:300602
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... OMIM:171480
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... OMIM:603671
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... ORPHA:3320
Omodysplasia 1
Short humerus, Anterolateral radial head dislocation, Umbilical hernia, Rhizomelia, Short tibia, ... OMIM:258315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Contracture of th... ORPHA:96334
Temple Syndrome
Small for gestational age, Overweight, Truncal obesity, Small hand, Micrognathia, Clinodactyly, F... OMIM:616222
Ataxia-Oculomotor Apraxia Type 4
Obesity, Pes cavus, Abnormal toe morphology, Distal lower limb muscle weakness ORPHA:459033
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Short metatarsal, Advanced ossification of carpal bones, Short phalanx of finger, Short ... OMIM:614613
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive ORPHA:71526
Laurence-Moon Syndrome
Polydactyly, Obesity OMIM:245800
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrognathia, Radioulnar synostos... ORPHA:1788
Ophthalmomandibulomelic Dysplasia
Coxa valga, Mesomelia, Radial bowing, Fibular hypoplasia, Lateral humeral condyle aplasia OMIM:164900
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Temple Syndrome
Small for gestational age, Clinodactyly of the 5th finger, Small hand, Short foot, Obesity ORPHA:254516
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Obesity ORPHA:2183
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short tibia, Short long bone, Fibular hy... OMIM:617925
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Ivory epiphyses, Narrow pelvis bone, Truncal obesity, Hypoplastic... OMIM:210720
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Congenital d... OMIM:618022
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Abnormality of the lower limb, Lower limb undergrowth, Microgna... ORPHA:3035
Bardet-Biedl Syndrome 19
Obesity, Postaxial polydactyly OMIM:615996
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Tapered finger ORPHA:589905
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Tapered finger, Tall stature, Small hand, Clinodactyly, Sandal gap, Short foot, Obesity OMIM:618089
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Overweight, Obesity OMIM:617406
Verloove Vanhorick-Brubakk Syndrome
Limb undergrowth, Finger syndactyly, Abnormal metacarpal morphology, Micrognathia, Abnormality of... ORPHA:3429
Bardet-Biedl Syndrome 6
Obesity, Syndactyly, Postaxial polydactyly OMIM:605231
Occipital Horn Syndrome
Inguinal hernia, Hip dislocation, Hip dysplasia, Keloids, Brachydactyly, Humerus varus, Down-slop... ORPHA:198
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Schaaf-Yang Syndrome
Camptodactyly, Arthrogryposis multiplex congenita, Obesity, Failure to thrive in infancy, Rocker ... OMIM:615547
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Pes planus, Bilateral coxa valga, Obesity, Short metatarsal, Short phalanx of f... ORPHA:439822
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Cantu Syndrome
Metaphyseal widening, Umbilical hernia, Coxa valga, Erlenmeyer flask deformity of the femurs, Hyp... OMIM:239850
Moebius Syndrome
Camptodactyly, Pes planus, Syndactyly, Lower limb undergrowth, Aplasia/Hypoplasia involving the m... OMIM:157900
Fibrochondrogenesis 1
Camptodactyly, Short ribs, Posterior vertebral hypoplasia, Rhizomelia, Hypoplastic scapulae, Broa... OMIM:228520
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Obesity, Tapered finger OMIM:619854
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Orofaciodigital Syndrome Type 2
Hand polydactyly, Y-shaped metacarpals, Limb undergrowth, Polysyndactyly of hallux, Short tibia, ... ORPHA:2751
Carpenter Syndrome 1
Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Toe syndactyly... OMIM:201000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Short ribs, Postaxial polysyndactyly of foot, Disproportionate shorteni... OMIM:263520
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Limb undergrowth, Broad long bones, Crumpled long bones, Tibial bowing... OMIM:166210
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Truncal obesity, Small hand, Micrognathia, Clinodactyly, Short foot, O... ORPHA:96184
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Umbilical hernia, Overgrowth, Micrognathia, Large for gestational age OMIM:618272
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Erlenmeyer flask deformity of the femurs, Flared metaphysis, Club-shaped di... OMIM:123000
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Epiphyseal stippling, Increased body weight OMIM:274300
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Pes planus, Dentinogenesis imperfecta, Hyperextensibility of th... OMIM:610967
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Polydactyly, Obesity OMIM:616629
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Acro-Renal-Mandibular Syndrome
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Congenital di... ORPHA:958
Retinitis Pigmentosa 51
Polydactyly, Obesity OMIM:613464
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short ribs, Obesity, Short long bone, Postaxial hand polydactyly, Cone-shaped epiphyses of the ph... OMIM:615630
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
13Q12.3 Microdeletion Syndrome
Camptodactyly, Hip dysplasia, Hemihypotrophy of lower limb, Failure to thrive, Congenital diaphra... ORPHA:412035
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Polydactyly, Mesoaxial polydactyly, Short fourth metatarsal, Obesity,... OMIM:615994
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Rhizomelia, Failure to thrive, Epiphyseal stippling, Micrognathia... OMIM:222765
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Broad hallux, Increased body weight, Pes planus, Short foot OMIM:300860
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... OMIM:108720
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Limb undergrowth, Obesity, Short middle phalanx of the 5th finger, Abnormal carpal... ORPHA:319675
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... OMIM:618150
Pseudohypoparathyroidism, Type Ia
Short finger, Obesity, Short metatarsal, Short metacarpal, Enamel hypoplasia, Short toe, Brachyda... OMIM:103580
Diamond-Blackfan Anemia 21
Hallux valgus, Hip dysplasia, Obesity, Clinodactyly of the thumb, Micrognathia, Tapered finger, S... OMIM:620072
Cousin Syndrome
Camptodactyly, Prominent protruding coccyx, Rhizomelia, Dislocated radial head, Hypoplastic scapu... OMIM:260660
Aredyld Syndrome
Lipoatrophy, Cachexia, Brachydactyly, Abnormal dental enamel morphology, Abnormal pelvic girdle b... ORPHA:1133
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Abnormal epiphysis morphology, Delayed epiphyseal ossification, Large for gesta... ORPHA:226313
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... ORPHA:2879
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Short phalanx of fi... ORPHA:1422
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology OMIM:607634
Acrorenal-Mandibular Syndrome
Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot polydactyly, Microgna... OMIM:200980
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Femoral bowing, Fibular bowing,... ORPHA:85165
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
X-Linked Intellectual Disability, Cabezas Type
Down-sloping shoulders, Camptodactyly of finger, Inguinal hernia, Pes cavus, Obesity, Cachexia, T... ORPHA:85293
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Umbilical hernia, Overgrowth, Omphalocele, Large for gestational age ORPHA:254534
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Small hand, Short clavicles, Tapered finger ORPHA:401923
Schneckenbecken Dysplasia
Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Hypoplastic vertebral bodies, Dumbb... ORPHA:3144
Omodysplasia 2
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Fibular hypoplasia, Rhiz... OMIM:164745
Campomelic Dysplasia
Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathia, Short long bo... ORPHA:140
Smith-Magenis Syndrome
Pes planus, Increased body weight, Short palm, Brachydactyly OMIM:182290
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinova... ORPHA:1827
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Short metacarpal, Enamel hypoplasia, Brachydactyly, Obesity OMIM:612462
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Early ossification of capital femoral epiphyses, Short ribs, Foot polydactyly, ... OMIM:208500
Meier-Gorlin Syndrome 1
Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Joint contracture of the hand, Ab... OMIM:224690
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Cleidocranial Dysplasia
Down-sloping shoulders, Hypoplastic inferior ilia, Abnormal dental enamel morphology, Hypoplastic... ORPHA:1452
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Camurati-Engelmann Disease
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Aplasia/Hypoplasia of t... ORPHA:1328
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... OMIM:274000
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormal pelvic girdle bone morphology OMIM:166600
Ulnar-Mammary Syndrome
Inguinal hernia, Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4th me... OMIM:181450
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Short thumb, Preaxial polydactyly, Hypoplastic frontal sinuses, Synostos... ORPHA:90652
Harrod Syndrome
Arachnodactyly, Abnormal shoulder morphology, Failure to thrive, Abnormal pelvic girdle bone morp... ORPHA:2115
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,... OMIM:114290
Orofaciodigital Syndrome Vi
Clinodactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Micrognathia, Preaxial foot poly... OMIM:277170
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Syndactyly, Large for gestational age, Failure to thrive OMIM:614520
Ulnar-Mammary Syndrome
Camptodactyly of finger, Absent hand, Short distal phalanx of finger, Abnormality of the humerus,... ORPHA:3138
Mesomelia-Synostoses Syndrome
Distal femoral bowing, Short metatarsal, Tarsometatarsal synostosis, Carpometacarpal synostosis, ... OMIM:600383
Partial Deletion Of The Short Arm Of Chromosome 7
Small toe, Pes planus, Obesity, Aplasia of the distal phalanx of the 5th finger, Broad toe, Short... ORPHA:261911
Hydrolethalus Syndrome 1
Omphalocele, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper limb undergrowth... OMIM:236680
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Joubert Syndrome 39
Joint contracture of the 5th finger, Overweight, Postaxial polydactyly OMIM:619562
Cartilage-Hair Hypoplasia
Abnormal distal phalanx morphology of finger, Metaphyseal chondrodysplasia, Abnormal metaphysis m... ORPHA:175
Pruritic Urticarial Papules And Plaques Of Pregnancy
Abnormality of the plantar skin of foot, Increased body weight ORPHA:64745
Sotos Syndrome
Long foot, Overgrowth, Tall stature, Increased body weight, Pes planus, Long phalanx of finger, G... OMIM:117550
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
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Rad... OMIM:304120
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Short toe, Large knee, Cone-shaped epiphyses of the phalanges of the hand, Dentinogenesi... OMIM:619269
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Pes planus, Inguinal hernia, Capitate-hamate fusion, Short metacarpal, Enam... OMIM:272460
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Obesity ORPHA:110
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Split foot, Finger syndactyly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the phalange... ORPHA:1112
Narcolepsy 7
Obesity OMIM:614250
Magel2-Related Prader-Willi-Like Syndrome
Hip dysplasia, Abdominal obesity, Failure to thrive, Small hand, Increased body weight, Flexion c... ORPHA:398069
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Abnormal pelvic girdle bone morphology OMIM:600057
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Pedal edema, Obesity ORPHA:86816
Wilson Disease
Weight loss, Failure to thrive, Increased body weight ORPHA:905
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long foot, Camptodactyly, Abnormal femoral torsion, Inguinal hernia, Proportionate tall stature, ... ORPHA:500095
Faciocardiomelic Syndrome
Hypoplastic pelvis, Polydactyly, Slender long bone, Micrognathia, Large for gestational age OMIM:612731
Increased body weight ORPHA:97279
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly,... OMIM:619471
Aromatase Deficiency
Eunuchoid habitus, Delayed epiphyseal ossification, Tall stature, Genu valgum, Obesity ORPHA:91
Thauvin-Robinet-Faivre Syndrome
Pes planus, Long foot, Inguinal hernia, Overgrowth, Tall stature, Long hallux, Bowing of the legs... OMIM:617107
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micro... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Osteopathia striata, Camptodactyly, Paranasal sinus hypoplasia, Flexion contracture of toe, Failu... OMIM:300373
Cranioectodermal Dysplasia 1
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Inguinal he... OMIM:218330
Kinsship Syndrome
Hip dislocation, Polydactyly, Dislocated radial head, Coxa valga, Mesomelia, Failure to thrive, M... OMIM:619297
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Obesity, Short metatarsal, Short phalanx of finger, Hypoplastic vertebral bodies, Short metacarpa... ORPHA:280651
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Dorsocervical fat pad, Abdominal obesity, Abnormal subcutaneous fat tissue distribution, Increase... ORPHA:189439
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Abdominal obesity, Increased body weight ORPHA:189427
Charge Syndrome
Down-sloping shoulders, Hand polydactyly, Absent radius, Absent tibia, Bilateral talipes equinova... OMIM:214800
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
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
Hypoplasia of proximal radius, Obesity, Hip subluxation, Small hand, Micrognathia, Fibular hypopl... ORPHA:444077
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Dorsocervical fat pad, Truncal obesity, Increased body weight, Abdominal obesity, Pedal edema ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Truncal obesity, Increased body weight, Abdominal obesity, Pedal edema, We... ORPHA:99889
Carney Complex
Tall stature, Dorsocervical fat pad, Abdominal obesity, Increased body weight ORPHA:1359


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.

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MGI Allele Allele Type Produced
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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