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Gene: Hoxb9 MGI:96190

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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:
homeobox B9
Synonyms:
Hox-2.5

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 Hoxb9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxb9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Hypertrophy Of The Breast, Juvenile
Abnormal thorax morphology OMIM:113670
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Supernumerary nipple, Scoliosis, Abnormality of tibia mor... ORPHA:64755
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... ORPHA:1988
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends ORPHA:168555
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... ORPHA:1801
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal ... ORPHA:1354
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Becker Nevus Syndrome
Pectus excavatum, Hemivertebrae, Scoliosis, Unilateral breast hypoplasia, Cervical ribs OMIM:604919
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib ... OMIM:602271
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia, Abnormal thorax morphology OMIM:200900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, ... ORPHA:93351
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... ORPHA:474
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Wormian bones, Pectus carinatum, Short lowe... OMIM:259440
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Cerebrofaciothoracic Dysplasia
Bifid ribs, Rib fusion, Vertebral segmentation defect, Sprengel anomaly, Narrow chest, Hemiverteb... ORPHA:1394
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Cryptorchidism, Short sternum OMIM:184800
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... ORPHA:168549
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... OMIM:265000
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Abnor... ORPHA:2522
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Diastrophic Dysplasia
Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Abnormal clavicle morphology, Campto... ORPHA:628
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sl... ORPHA:392
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... ORPHA:93267
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Cryptorchidism, Ulnar deviation of the 2nd finger, Cu... OMIM:148050
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormality of the spleen, Abnormal form of the vertebral bodies ORPHA:93941
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Multiple pterygia, Pectus excavatum, Abnormal sternum ... ORPHA:2990
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... ORPHA:1486
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly ORPHA:261197
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... OMIM:269250
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... ORPHA:2097
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morpholog... ORPHA:3035
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology, Cryptorchidism ORPHA:1703
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... OMIM:134780
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Ant... OMIM:300232
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral... ORPHA:280195
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Neutropenia ORPHA:2643
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Rib fusion, Overlapping toe, Beaking of vertebral bodies, Pectus excavatum, Decreased... OMIM:213980
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Pectus ... ORPHA:582
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Pallister-Hall Syndrome
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Decreased response to growth ... OMIM:146510
Hypophosphatasia
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... ORPHA:436
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Elbow dislocation, Sacral dimple, Sho... ORPHA:1507
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones, Bell-shaped thorax, ... OMIM:166210
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Enlarged thorax, Thin ribs,... ORPHA:2616
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot ORPHA:93298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Bilateral cryptorchidism... ORPHA:544488
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Hypoplasia of the radius, Coronal craniosynostosis, Carpal bone ap... OMIM:218600
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Block vertebrae, Hemivertebrae, Scoliosis, Missing r... OMIM:304050
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Premature osteoarthritis, Thoracic hypo... ORPHA:93352
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... OMIM:618019
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... OMIM:187600
Phaver Syndrome
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... ORPHA:2876
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Split hand, Arachnodactyly, Preaxial hand polydactyly, Abnormality of the v... ORPHA:280
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Cryptorchidism, Small hand, Short neck, Scoli... OMIM:611209
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... ORPHA:2347
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Anemia, Congenital hypoparathyroidism, Thin clavicles, Sle... OMIM:244460
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... OMIM:252600
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Short palm ORPHA:93299
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Abnormal rib morpholog... ORPHA:2050
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Kyphosis, Splenomegaly, Short neck, Genu valgum, Broad ribs, Ovoid vertebra... ORPHA:583
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, Abnormal metaphyseal trabeculation, Short sternum, H... OMIM:224300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Short long bone, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormian ... OMIM:616229
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Cryptorchidism, Short ribs, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... OMIM:200600
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Split f... ORPHA:958
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Slender long bone, Prominent calca... OMIM:612921
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Bowing of the long bones, V... OMIM:617952
Shwachman-Diamond Syndrome 1
Narrow chest, Coxa vara, Neutropenia, Narrow greater sciatic notch, Metaphyseal sclerosis, Persis... OMIM:260400
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... ORPHA:97360
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, Radioulnar synostos... ORPHA:3258
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, Slender long bone,... OMIM:259420
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Splenomegaly OMIM:252900
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Thin ribs, Craniosynostosis OMIM:618265
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Adducted thumb, Hypoplasia of the thymus, Short neck, Overlappi... OMIM:617022
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Cryptorchidism ORPHA:2772
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Short ribs, Postaxial hand polydactyly, Abnorm... ORPHA:2519
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Prominent... OMIM:619636
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Abnormal sternal ossification, Preaxial hand polydactyly, Vertebral fusion,... OMIM:194190
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... OMIM:211350
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... OMIM:245190
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Wormian bones, Short tubular bones of the hand, Vertebral arch anomaly, Broad... ORPHA:85184
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, V... ORPHA:2911
Cartilage-Hair Hypoplasia
Prominent sternum, Femoral bowing, Macrocytic anemia, Scoliosis, Anemia, Hypoplasia of the odonto... OMIM:250250
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... ORPHA:79345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... ORPHA:1120
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... ORPHA:1318
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Abnormality of the spleen, Scoliosis, Abnormal form of... ORPHA:1834
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Platyspondyly, Wormian bones, Na... OMIM:616294
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... ORPHA:93317
Holzgreve Syndrome
Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal met... ORPHA:2167
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Cone-shaped epiphysis, Brachydactyly, Scoliosis, Fused cervical ve... OMIM:157800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... OMIM:271665
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... OMIM:613091
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Splenomegaly OMIM:252920
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Zttk Syndrome
Rib fusion, Kyphosis, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis, Cervical ribs, Abse... OMIM:617140
Pyknoachondrogenesis
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Hypoplastic ischi... ORPHA:3003
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... OMIM:251230
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, S... OMIM:312150
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... ORPHA:1452
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar ve... OMIM:252930
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, Annular pancreas, Clinodactyly of the 5th finger, Kyphosis, Spinal canal ... ORPHA:1606
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Vacuolated l... OMIM:230500
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... OMIM:142900
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... OMIM:225500
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Thin ribs, Femoral retroversion, Femoral bowing, Barrel-s... OMIM:610915
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:258850
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Renpenning Syndrome
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... ORPHA:3242
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, S... OMIM:253290
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... OMIM:305620
Cantú Syndrome
Short distal phalanx of finger, Narrow chest, Broad hallux phalanx, Short neck, Platyspondyly, Sh... ORPHA:1517
Craniometadiaphyseal Dysplasia
Flared metaphysis, Scoliosis, Genu varum, Wormian bones, Genu valgum, Broad ribs, Cubitus valgus,... OMIM:269300
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Asplenia OMIM:602361
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Platyspondyly, Scoliosis, Genu valgum, Broad ribs, Bowing of the long bo... OMIM:613848
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Bowin... ORPHA:175
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Pallister-Hall Syndrome
Hemivertebrae, Thyroid hypoplasia, Radial head subluxation, Polydactyly affecting the 4th finger,... ORPHA:672
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... OMIM:208500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Narrow chest, Thin ribs, Triangular shaped distal phalanges of th... ORPHA:73230
Familial Osteodysplasia, Anderson Type
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... ORPHA:2769
Xylt1-Cdg
Short clavicles, Joint dislocation, Flared metaphysis, Short femoral neck, Broad thumb, Broad rib... ORPHA:370930
Antley-Bixler Syndrome
Narrow chest, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral bowing, Camptodactyly of... ORPHA:83
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
X-Linked Hypophosphatemia
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Upp... ORPHA:89936
Acrorenal-Mandibular Syndrome
Absent nipple, Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplas... OMIM:200980
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Thin ribs ORPHA:456328
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ... OMIM:612852
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of fin... ORPHA:96061
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... OMIM:308205
Radio-Renal Syndrome
Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Abnor... ORPHA:3015
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split hand, Cryptorchidism, Finger synda... ORPHA:1300
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... ORPHA:3378
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosi... OMIM:109400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Pancreatic fibrosis, Platyspondyly, Brachydactyl... OMIM:263520
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... OMIM:304150
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ab... ORPHA:52
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Metaphyseal irregularity, Lumbar hyperlordosis, Kyphoscoliosis, Prominent s... OMIM:253200
Craniofaciofrontodigital Syndrome
Hypoplastic vertebral bodies, Pectus excavatum, Short neck, Hypoplastic pelvis, Cubitus valgus, B... OMIM:114620
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, 1... OMIM:607872
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow dislocation, Absent ste... OMIM:224690
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... ORPHA:1505
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs, Cryptorchidism, Aplasia/Hyp... ORPHA:3301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Shor... OMIM:276820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... ORPHA:500150
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... OMIM:610682
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... ORPHA:93473
Craniorachischisis
Bifid sternum ORPHA:63260
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... OMIM:609945
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Flared iliac wing, Preaxial polydactyly, Abnormal vertebral segm... ORPHA:90652
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Arachnodactyly, Camptodactyly of finger, Prominent metopic ridge, Sco... ORPHA:2215
Vacterl/Vater Association
Vertebral segmentation defect, Preaxial hand polydactyly, Aplasia/Hypoplasia of the radius, Abnor... ORPHA:887
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Elevated circulating growth hormone concentration, Ab... ORPHA:249
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morphology, Short ... ORPHA:488434
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Cryptorchidism, P... ORPHA:261344
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Butterfly vertebrae, Posterior rib fusion, Asplenia OMIM:265380
Aspergillosis
Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Abnormal long bone mo... ORPHA:1163
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... OMIM:266910
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation, Abnormality of the spleen, Pancreatic hypopl... ORPHA:1666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Preaxial polydacty... OMIM:617925
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Postaxial polydactyly, Short ribs, Splenomegaly, Cone-shaped epiph... OMIM:617088
Myhre Syndrome
Large iliac wing, Cryptorchidism, Abnormality of the pubic bone, Brachydactyly, Platyspondyly, Ab... ORPHA:2588
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Short neck, Abnormality of the vertebral column, Polydactyly, Abnorma... ORPHA:77301
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Biconcave vertebral bodies, Pe... ORPHA:666
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Kyphosis, Pectus excavatum, Hyperextensibility of the finger joints... OMIM:303600
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... OMIM:117650
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... ORPHA:3404
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Super... ORPHA:373
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Abnormal epiphysis morphol... ORPHA:667
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... ORPHA:2554
Monosomy 9P
Short neck, Abnormality of the vertebral column, Scoliosis, Postaxial hand polydactyly, Abnormal ... ORPHA:261112
Vater/Vacterl Association
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... OMIM:192350
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Abnormality of the spleen, Abnormal testis... ORPHA:991
Trisomy 18
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Postaxial hand polyda... ORPHA:3380
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Splenomegaly, Avascular necrosis of the capital femoral epiphysis, ... ORPHA:581
Smith-Lemli-Opitz Syndrome
Kyphosis, 2-3 toe syndactyly, Split hand, Short neck, Brachydactyly, Scoliosis, Abnormal form of ... ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... ORPHA:2907
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short 5th metacarpal, Ane... ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Kyphosis, Anemia, Platyspondyly, Scoliosis, Arthritis, Abnormal rib morphology, T... ORPHA:534
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... ORPHA:857
Alagille Syndrome 1
Short distal phalanx of finger, Hemivertebrae, Hypoplasia of the ulna, Abnormal rib morphology, B... OMIM:118450
Charge Syndrome
Clinodactyly of the 5th finger, Hemivertebrae, Brachydactyly, Anterior hypopituitarism, Abnormali... ORPHA:138
Charge Syndrome
Hypoparathyroidism, Absent tibia, Lymphopenia, Decreased response to growth hormone stimulation t... OMIM:214800

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 Hoxb9

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 Hoxb9.

No publications found that use IMPC mice or data for Hoxb9.

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MGI Allele Allele Type Produced
Hoxb9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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