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Gene: Hoxa4 MGI:96176

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Gene Summary

Name:
homeobox A4
Synonyms:
Hox-1.4

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Hoxa4em1(IMPC)Mbp HOM Early adult 0.00
small kidney Hoxa4em1(IMPC)Mbp HOM Early adult 0.00
small liver Hoxa4em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Hoxa4em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Hoxa4em1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Hoxa4 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 Hoxa4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... OMIM:609052
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Abnorma... ORPHA:2790
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... OMIM:617405
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Short palm, Limitation of joint mobility, Flared, irregular rib ends, Coxa vara ORPHA:168555
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Met... OMIM:187760
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Abnormal form of the vert... ORPHA:1801
Sprengel Deformity
Scoliosis, Hemivertebrae, Rib segmentation abnormalities, Cervical segmentation defect, Spina bif... OMIM:184400
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Brachyolmia, Maroteaux Type
Pectus excavatum, Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies ORPHA:93302
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Abnormal cortical bone morpho... ORPHA:2635
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Short lower limbs, Pectus excavatum, Scoliosis, Multiple prenatal fractures, Kyphosi... OMIM:259440
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Butterfly vertebrae, Low back pain, Short neck, Missing ribs, Hemive... OMIM:122600
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... ORPHA:1836
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of... ORPHA:1354
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Limited elbow extension, Lumbar hyperlordosis, Short m... OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Pectus excavatum, Thoracic hypoplasia, Lumbar hyperlo... OMIM:608728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... ORPHA:1797
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... OMIM:277300
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Pla... OMIM:614524
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Bell-shaped th... OMIM:615633
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Abnormal rib morphology, Toe syndacty... ORPHA:474
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Abnorma... ORPHA:66637
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Irregular acetabular roof, Flared iliac wing, Halberd-shaped pelvis, Enlarged joints, ... OMIM:184252
Axial Spondylometaphyseal Dysplasia
Scoliosis, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proxi... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped verteb... OMIM:602111
Osteogenesis Imperfecta, Type Xv
Scoliosis, Thin ribs, Bowing of limbs due to multiple fractures, Platyspondyly, Recurrent fractur... OMIM:615220
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Club-shaped proximal femur, Scoliosis, Anterior rib cupping, Hypoplasia of the odontoid process, ... OMIM:184250
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Short femoral neck, Narrow c... OMIM:602271
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
Poland Syndrome
Short ribs, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Unilateral brachydactyly, Sprenge... OMIM:173800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy... OMIM:608940
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Hypersulfaturia
Costochondral pain OMIM:620372
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Joint dislocation, Wormian bones, Ab... ORPHA:2097
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Short neck, Abnormal hip bone morphology, Abnormality of the e... ORPHA:1486
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly ORPHA:2956
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Diastrophic Dysplasia
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joint dislocation... ORPHA:628
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fu... ORPHA:1436
Holt-Oram Syndrome
Down-sloping shoulders, Pectus excavatum, Abnormality of the humerus, Scoliosis, Absent thumb, Jo... ORPHA:392
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Abnormal epiphysis morph... ORPHA:93267
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Dyggve-Melchior-Clausen Disease
Horizontal inferior border of scapula, Atlantoaxial instability, Iliac crest serration, Limited k... ORPHA:239
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... OMIM:184253
Juberg-Hayward Syndrome
Scoliosis, Short thumb, Abnormal finger morphology, Abnormality of the elbow, Abnormality of the ... ORPHA:2319
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormal hip bone morphology, Kyphosis, Abnormal rib morphology, Ab... ORPHA:2522
Dystonia 31
Abnormal posturing OMIM:619565
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Beaded ribs, Thin ribs, Broad long bones, Multiple prenatal fractures, Crump... OMIM:166210
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pectus excavatum, Scoliosis, Osteoporosis, Coxa valga, Wormian bones, Platys... OMIM:619131
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal rib morphology, Hemivertebrae, Abnorma... ORPHA:2234
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Platyspondyly, Metaphyseal irregularit... OMIM:187601
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin bony cortex, Thin ribs, Wormian bones, Vertebral compression fract... OMIM:617952
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs... ORPHA:64755
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Short neck, Ovoid vertebral bodies, Flat acetabular r... OMIM:269250
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Coxa vara, Brachydactyly, Metaphyseal w... OMIM:250420
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping, Hypoplasia of the calcaneus, Thin ribs, Platyspondyly, Metaphyseal cupping o... OMIM:300863
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal m... ORPHA:2484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Wafer-thin platyspondyly, Metaphyseal irregularity, Radial bowing... OMIM:151210
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, ... ORPHA:582
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Wormian bones, Osteopenia, Vertebral compression fracture, Platyspondyly, Short long... OMIM:616229
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly, Joint hyperfl... ORPHA:2475
Mucopolysaccharidosis, Type Iva
Scoliosis, Large elbow, Cervical subluxation, Epiphyseal deformities of tubular bones, Pointed pr... OMIM:253000
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Preaxial ... ORPHA:1988
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Wormian bones, Scoliosis, Thin ribs, Short metacarpal, Multiple prenatal... OMIM:610915
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Lumbar hyperlordosis, Genu varum, Central vertebral hypoplasia, Short neck, Short ribs... OMIM:602557
Osteogenesis Imperfecta, Type Iii
Scoliosis, Severe generalized osteoporosis, Thin ribs, Multiple prenatal fractures, Slender long ... OMIM:259420
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormality of limb bone morphology, Abnormal rib morphology, Abnormal ver... OMIM:118100
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux, Multicystic k... OMIM:617805
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... OMIM:600081
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Flared iliac wing, Radial b... OMIM:607778
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
Dysosteosclerosis
Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Broad femoral neck, ... OMIM:224300
3M Syndrome
Scoliosis, Thin ribs, Rocker bottom foot, Hypoplastic pelvis, Horizontal ribs, Short neck, Slende... ORPHA:2616
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Abnormal rib morphology, Narrow chest, Short thorax... ORPHA:93298
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Broad long bones, Posterior rib cuppin... OMIM:228520
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Achondrogenesis, Type Ia
Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Short neck, Abnormal ... OMIM:200600
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck ORPHA:1703
Achondrogenesis Type 1A
Short thorax, Short neck, Abnormal enchondral ossification, Narrow chest, Short palm, Recurrent f... ORPHA:93299
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Aplasia/Hypoplasia of fingers, Kyphosis, Abnormal epiphysis morphology, Abnormal rib ... ORPHA:3082
Fibrochondrogenesis
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short nec... ORPHA:2021
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae, Sprenge... ORPHA:2180
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Flattened epiphysis, Thin ribs, Flared i... OMIM:300232
Spondylocostal Dysostosis 4, Autosomal Recessive
Pectus excavatum, Scoliosis, Vertebral fusion, Abnormality of the odontoid process, Short neck, M... OMIM:613686
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... OMIM:273250
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short neck, Finger syndactyly, Kyphosis, Abnormal rib morphol... ORPHA:2311
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal diaphysis morphology, Broad ribs, Coxa valga, Wormian bo... ORPHA:85184
Mucopolysaccharidosis, Type X
Spatulate ribs, Scoliosis, Hip dysplasia, Broad ribs, Broad clavicles, Hyperlordosis, Irregular a... OMIM:619698
Phaver Syndrome
Camptodactyly of finger, Butterfly vertebrae, Ulnar deviation of finger, Joint stiffness, Short t... ORPHA:2876
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Cortical thickening... ORPHA:93324
Hypophosphatasia
Craniosynostosis, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Recurren... ORPHA:436
Cole-Carpenter Syndrome
Scoliosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Kyphosis, Wormi... ORPHA:2050
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... OMIM:266810
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Lower limb undergrowth, Abnormal rib morphology, Tibial bowing,... ORPHA:3035
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, Hemivertebrae, Join... ORPHA:2759
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Scoliosis, Proximal placement of thumb, Mi... ORPHA:1488
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Hypoplastic ilia, Short greater sciatic notch, Short neck, Short ribs, Sever... OMIM:187600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal cupping, Joint dislocation, Bowed humerus, Metaphyseal irregularity, Short 5th metaca... OMIM:618019
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Butterfly vertebrae,... OMIM:620076
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Pyknoachondrogenesis
Abnormal iliac wing morphology, Horizontal ribs, Craniofacial hyperostosis, Enlarged thorax, Shor... ORPHA:3003
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Leydig Cell Hypoplasia
Cryptorchidism, Aplasia of the uterus, Micropenis, Ambiguous genitalia, Abnormal vas deferens mor... ORPHA:755
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... OMIM:300106
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin ribs, Calvarial osteosclerosis, Slender long bone, Delayed closure of the an... OMIM:244460
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, ... OMIM:252600
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hip dysplasia, Cervical subluxation, Epiphyseal deformities of tubular bones, Pointed ... OMIM:253010
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Scoliosis, Generalized joint laxity, Broad ribs, Thin ribs... OMIM:613848
X-Linked Hypophosphatemia
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... ORPHA:89936
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, ... ORPHA:2347
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Fused cervical vertebr... OMIM:618469
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Decreased calvarial ossification, Joint hyperflexibility, Recurrent frac... ORPHA:2772
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Triangular shaped distal phalanges of the hand, Abnormal diaphysi... ORPHA:73230
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Unilateral renal agenesis, Abnormal external genitalia, Aplasia of... OMIM:158330
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Thoracic hypoplasia, Lateral clavicle hook, Flat acetabul... OMIM:211350
Acro-Renal-Mandibular Syndrome
Scoliosis, Hip dislocation, Butterfly vertebrae, Short neck, Thin ribs, Hypoplastic scapulae, Fin... ORPHA:958
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Broad long bones, Short tubula... OMIM:200610
Cole-Carpenter Syndrome 2
Coronal craniosynostosis, Pectus excavatum, Thin ribs, Kyphosis, Osteopenia, Wormian bones, Platy... OMIM:616294
Cleidocranial Dysplasia
Scoliosis, Decreased skull ossification, Brachydactyly, Coxa vara, Down-sloping shoulders, Abnorm... ORPHA:1452
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Postaxial polydact... OMIM:617895
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Thin ribs, Platyspondyly, Short palm, Abnormality of the calcaneus,... ORPHA:163966
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Multiple pren... OMIM:215140
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Hypoplasia of ... ORPHA:1916
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... ORPHA:3258
Spondylometaphyseal Dysplasia, Sedaghatian Type
Horizontal inferior border of scapula, Metaphyseal cupping, Short toe, Metaphyseal irregularity, ... OMIM:250220
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Thin ribs, Slender long bone, Scapular winging, Prominent calca... OMIM:612921
Multiple Pterygium Syndrome, X-Linked
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multip... OMIM:312150
Craniometadiaphyseal Dysplasia
Scoliosis, Genu varum, Broad ribs, Coxa valga, Broad long bones, Osteopenia, Wormian bones, Flare... OMIM:269300
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Osteopenia, Periostitis, Osteomyelitis, Fused cervical ve... OMIM:612852
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal spurs, Hypoplastic ilia, Scoliosis, Ivory epiphyses, Ovoid vertebral bodies, Femoral ... ORPHA:85167
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Fractured radius, Decreased fibular diameter, Short neck, Short... OMIM:616897
Acromesomelic Dysplasia 4
Prominent deltoid tuberosities, Short metatarsal, Broad finger, Short toe, Metaphyseal irregulari... OMIM:619636
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal hip bone morphology, Abnormal rib morphology, Pectus carinatu... ORPHA:3068
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Missing ribs... ORPHA:2769
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Abnormal rib morphology, Split hand, Brachydactyly ORPHA:2145
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... OMIM:618265
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Abnormality of the costochondral junction, Atlantoaxial instabili... ORPHA:79345
Holzgreve Syndrome
Hand polydactyly, Joint stiffness, Abnormal metacarpal morphology, Abnormal rib morphology, Abnor... ORPHA:2167
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Abnormality of th... OMIM:194072
Multiple Pterygium Syndrome, Lethal Type
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multip... OMIM:253290
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Abnormal posturing, Hyperlordosis OMIM:128100
Mucopolysaccharidosis, Type Iiia
Scoliosis, Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae OMIM:252900
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... OMIM:305620
Poland Syndrome
Absent hand, Abnormality of the humerus, Scoliosis, Asymmetry of the thorax, Finger symphalangism... ORPHA:2911
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Delayed proximal fem... OMIM:271640
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... OMIM:271520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Thoracic hypoplasia, Horizontal ribs, Scoliosis, Lateral clavicle hook, Absent... OMIM:613091
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Aplasia of the uterus, Micropenis, Ambiguous genitalia, Urogenital sinus an... ORPHA:90797
Mucopolysaccharidosis Type 6
Joint stiffness, Abnormal metaphysis morphology, Short neck, Ovoid vertebral bodies, Broad ribs, ... ORPHA:583
Testicular Agenesis
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... ORPHA:325124
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Antley-Bixler Syndrome
Craniosynostosis, Elbow ankylosis, Camptodactyly of finger, Joint stiffness, Delayed cranial sutu... ORPHA:83
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short metacarpal, Abnormal scapula morphology, Abnormal rib morphol... ORPHA:93317
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Abnormal rib morphology... ORPHA:1120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... ORPHA:168563
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Unilateral renal agenesis, Aplasia of... ORPHA:3109
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Cantú Syndrome
Short distal phalanx of finger, Abnormal metaphysis morphology, Short neck, Ovoid vertebral bodie... ORPHA:1517
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... OMIM:614841
Eiken Syndrome
Broad metatarsal, Clinodactyly, Flattened epiphysis, Long thumb, Flat acetabular roof, Delayed os... OMIM:600002
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Abnormal calcification of the carpal bones, Broad long bones, Atlantoaxial instability... OMIM:271665
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... ORPHA:99429
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal posturing ORPHA:157941
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Fibrous Dysplasia Of Bone
Rickets, Abnormality of the humerus, Scoliosis, Pathologic fracture, Cortical irregularity, Osteo... ORPHA:249
Renpenning Syndrome
Pectus excavatum, Joint stiffness, Abnormal rib morphology, Sprengel anomaly, Abnormal thumb morp... ORPHA:3242
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Nephrocalcinosis, Chronic kidney disease, Nephrotic... OMIM:146255
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Short neck, Abnormal form of the vertebral bodies, Missing ribs, Abnormality of the kn... ORPHA:1834
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Thickened ribs, Dense calvaria, Beaking of vertebral bodies, Kyphoscoliosis, Ovo... OMIM:252930
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Scoliosis, Multiple prenatal fractures, Osteopenia, Crumpled long bones, Verteb... OMIM:610682
Xylt1-Cdg
Broad ribs, Coxa valga, Joint dislocation, Short clavicles, Broad thumb, Short femoral neck, Shor... ORPHA:370930
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Biconvex vertebral bodies... ORPHA:175
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormal rib morphology, Brachydactyly, Abnormally ossified vertebrae... ORPHA:1318
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Long clavicles, Rocker bottom foot, Intercrural pterygium, Acetabular... OMIM:265000
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Short rib... OMIM:225500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Broad ribs, Abnormal rib morphology, Postaxial hand polydactyly, Abnormal sternum mor... ORPHA:2519
Prune Belly Syndrome
Pectus excavatum, Scoliosis, Congenital hip dislocation, Abnormal rib morphology, Vertebral segme... ORPHA:2970
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp... OMIM:614837
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Proteinuria, Biliary tract abnormality,... OMIM:137920
Cerebrofaciothoracic Dysplasia
Scoliosis, Short neck, Hemivertebrae, Narrow chest, Sprengel anomaly, Vertebral segmentation defe... ORPHA:1394
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Camptodactyly of toe, Hallux valgus, Lateral clavicle h... OMIM:600920
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Acrorenal-Mandibular Syndrome
Hand polydactyly, Hip dislocation, Butterfly vertebrae, Missing ribs, Thin ribs, Hypoplastic scap... OMIM:200980
Radio-Renal Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Abnormal rib morphol... ORPHA:3015
Meier-Gorlin Syndrome 1
Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Joint contracture of t... OMIM:224690
Mosaic Trisomy 8
Patellar aplasia, Camptodactyly of finger, Scoliosis, Short neck, Abnormal rib morphology, Narrow... ORPHA:96061
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Hand polydactyly, Lateral clavicle hook, Early ossification ... OMIM:208500
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Joint stiffness, Finger syndactyly, Abnormal rib morphology, Toe syndactyly, Popliteal... ORPHA:1300
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bladder ... ORPHA:83628
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Scoliosis, Vertebral fusion, Polydactyly, Short ribs, Short distal phalan... OMIM:109400
Townes-Brocks Syndrome 2
Bifid uterus, Vesicoureteral reflux, Rectovaginal fistula, Crossed fused renal ectopia, Hypospadias OMIM:617466
Occipital Horn Syndrome
Short humerus, Limited elbow extension, Pectus excavatum, Persistent open anterior fontanelle, Br... OMIM:304150
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Short thumb, Preaxial polydac... ORPHA:90652
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Short ribs, Thin ribs, Undulate ribs, Osteopenia, Short femur, Short long bone... OMIM:618188
Trisomy 13
Scoliosis, Ectrodactyly, Kyphosis, Abnormal rib morphology, Narrow chest, Postaxial hand polydact... ORPHA:3378
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Hip dysplasia, Joint stiffness, Ovoid vertebral bodie... OMIM:253200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... OMIM:276820
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly OMIM:602361
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Undulate ribs, Preaxial foot poly... OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Broad femoral neck, Osteopenia, Abnormal rib morphology, Thickened cortex of long bon... ORPHA:488434
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Missing ribs, Finge... ORPHA:1647
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Abnormal rib morphology, Butterfl... ORPHA:52
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Polysyndactyly of hallux, Short ribs,... OMIM:263520
Vaginal Atresia
Uterus didelphys, Cervicitis, Imperforate hymen, Transverse vaginal septum, Vaginal atresia, Abno... ORPHA:65681
Schwartz-Jampel Syndrome
Scoliosis, Hip dysplasia, Spinal rigidity, Shoulder flexion contracture, Sprengel anomaly, Coxa v... ORPHA:800
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Sept... ORPHA:2237
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Pectus excavatum, Ulnar deviation of finger, Arthrogryposis multiplex co... ORPHA:2215
Osteogenesis Imperfecta
Scoliosis, Abnormal long bone morphology, Abnormal cortical bone morphology, Thin ribs, Osteoarth... ORPHA:666
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae, Aplasia/Hypoplasia involvin... ORPHA:3301
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
46,Xy Sex Reversal 4
Hydronephrosis, Agonadism, Ureteropelvic junction obstruction, Hypoplasia of the uterus, Hypergon... OMIM:154230
Hurler Syndrome
Camptodactyly of finger, Scoliosis, Abnormal diaphysis morphology, Short neck, Abnormality of the... ORPHA:93473
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Craniorachischisis
Bifid sternum ORPHA:63260
Chromosome 17Q12 Deletion Syndrome
Hydronephrosis, Cryptorchidism, Aplasia of the uterus, Stage 5 chronic kidney disease, Renal cyst... OMIM:614527
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Incr... ORPHA:90793
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia OMIM:617914
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Abnormal urine potass... ORPHA:168558
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing ORPHA:225147
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Vacterl/Vater Association
Abnormal sacrum morphology, Finger syndactyly, Abnormal rib morphology, Preaxial hand polydactyly... ORPHA:887
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Abnormal urine potass... ORPHA:289548
Femoral-Facial Syndrome
Short humerus, Short fifth metatarsal, Scoliosis, Absent vertebra, Short fourth metatarsal, Missi... OMIM:134780
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Scoliosis, Abnormal metacarpophalangeal joint morphology, Metatarsal synostosis,... ORPHA:95699
Oeis Complex
Hydronephrosis, Cryptorchidism, Absent scrotum, Micropenis, Ambiguous genitalia, male, Hydrourete... OMIM:258040
Trisomy 1Q
Camptodactyly of finger, Short thorax, Abnormal rib morphology, Toe syndactyly, Preaxial hand pol... ORPHA:261344
Aspergillosis
Abnormal rib morphology, Abnormal long bone morphology, Osteomyelitis, Abnormality of the vertebr... ORPHA:1163
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Lateral clavicle hook, Long thorax, Preaxial polydactyly, Postaxial polydactyly,... OMIM:617925
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Cerebrocostomandibular Syndrome
Short humerus, Thoracic hypoplasia, Scoliosis, Congenital hip dislocation, 10 pairs of ribs, Anom... OMIM:117650
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Myhre Syndrome
Craniofacial hyperostosis, Abnormal metaphysis morphology, Joint stiffness, Large iliac wing, Abn... ORPHA:2588
Cog1-Cdg
Butterfly vertebrae, Short neck, Flat acetabular roof, Irregularity of vertebral bodies, Coxa val... ORPHA:263508
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Craniotubular Dysplasia, Ikegawa Type
3-4 finger syndactyly, Broad ribs, Broad femoral neck, Increased intervertebral space, Platyspond... OMIM:619727
Monosomy 9Q22.3
Pectus excavatum, Polydactyly, Short neck, Abnormality of the vertebral column, Metopic synostosi... ORPHA:77301
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... ORPHA:432
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased testicular size, Hypoplasia of the vagina, Clitoral hypertrophy, Hypoplasia of the uter... OMIM:202010
Microphthalmia, Syndromic 9
Hydronephrosis, Cryptorchidism, Hypoplastic spleen, Horseshoe kidney, Multilobulated spleen, Hypo... OMIM:601186
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Cardiac-Urogenital Syndrome
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Enlarged kidney, Patent... OMIM:618280
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Postaxial polydactyly, Short ribs, Short clavicles, Short long bone, Postaxial h... OMIM:617088
Ulbright-Hodes Syndrome
Short humerus, Abnormal forearm bone morphology, Phocomelia, Short neck, Short ribs, Hypoplasia o... ORPHA:3404
Exstrophy-Epispadias Complex
Cryptorchidism, Horseshoe kidney, Penoscrotal transposition, Urinary incontinence, Epispadias, Ab... ORPHA:322
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the vagina, Ambiguous genita... ORPHA:90796
Coffin-Lowry Syndrome
Pectus excavatum, Bifid sternum, Scoliosis, Coxa valga, Short metacarpal, Kyphosis, Tapered finge... OMIM:303600
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus ORPHA:3320
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Abnormal metaphysis morphology, Abnormal epiphysi... ORPHA:667
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Decreased testicular size, Hypernatriuria, Elevated urinary epinep... ORPHA:90794
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Patellar aplasia, Camptodactyly of finger, Abnormal epiphysis morphology, Slend... ORPHA:2554
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Pectus excavatum, Congenital hip dislocation, Vertebral fusion, Scoliosi... ORPHA:373
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Reduced bone mineral density, Scoliosis, Hip dysplasia, Joint stiffnes... ORPHA:581
Vater/Vacterl Association
Scoliosis, Absent radius, Short thumb, Preaxial polydactyly, Syndactyly, Abnormal rib morphology,... OMIM:192350
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Micropenis, Renal hypoplasia, Aplasia of the uterus OMIM:614083
Monosomy 9P
Scoliosis, Proximal placement of thumb, Short neck, Abnormality of the vertebral column, Abnormal... ORPHA:261112
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Hypoplasia of the uterus, Hypoplastic labia majora, Clitoral hypoplasi... OMIM:618419
Vici Syndrome
Abnormal posturing OMIM:242840
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Popliteal Pterygium Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... OMIM:119500
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Scoliosis, Ulnar deviation of finger, Hip dislocation, Proximal place... ORPHA:818
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal rib morpholo... ORPHA:3380
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Horseshoe kidney, Pancreatic cysts, Ureteral duplication, Vesicoureteral refl... OMIM:274000
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Hip dislocation, Abnormal metaphysis morphology, Joint stiffness, Joint swelling, Kyph... ORPHA:534
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus... OMIM:241080
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Clitoral hypertrophy, Hypoplasia of the uterus, Ovotestis, Chordee, Hypospadias OMIM:309801
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Abnormal rib morphology, Short ... ORPHA:2908
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia... ORPHA:3464
Okamoto Syndrome
Hydronephrosis, Urinary incontinence, Ureteropelvic junction obstruction, Unilateral renal hypopl... ORPHA:2729
Alagille Syndrome 1
Short distal phalanx of finger, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch,... OMIM:118450
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Townes-Brocks Syndrome 1
Rectoperineal fistula, Cryptorchidism, Renal insufficiency, Bifid uterus, Urethral valve, Bifid s... OMIM:107480
Hydrolethalus Syndrome 1
Hydronephrosis, Bifid uterus, Accessory spleen, Abnormal vagina morphology, Hypospadias OMIM:236680
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Wolf-Hirschhorn Syndrome
Biliary tract abnormality, Cryptorchidism, Precocious puberty, Accessory spleen, Hypospadias, Apl... OMIM:194190
Charge Syndrome
Scoliosis, Abnormality of bone mineral density, Bifid femur, Clinodactyly of the 5th finger, Abno... ORPHA:138
Coffin-Siris Syndrome 1
Hydronephrosis, Cryptorchidism, Aplasia of the uterus, Ectopic kidney, Hydroureter, Clitoral hype... OMIM:135900
Townes-Brocks Syndrome
Ulnar deviation of finger, Absent toe, Clinodactyly of the 5th finger, Abnormal rib morphology, T... ORPHA:857
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Micropenis, Ambiguous genitalia, Horseshoe kidney, Fused labia majora, Polycystic... OMIM:201750
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Peters-Plus Syndrome
Biliary tract abnormality, Hydronephrosis, Cryptorchidism, Hypoplasia of the vagina, Hypoplasia o... OMIM:261540
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine rupture, Cystocele, Uterine prolapse OMIM:130050
Charge Syndrome
Down-sloping shoulders, Hand polydactyly, Scoliosis, Absent radius, Absent tibia, Short thumb, Bi... OMIM:214800
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Bladder diverticulum, Uterine rupture, Cystocele, Renovascular hypertension, Uter... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Cryptorchidism, Aplasia of the uterus, Renal cyst, Labial hypoplasia, Hypoplastic labia majora, S... OMIM:601803
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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 Hoxa4

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 Hoxa4.

No publications found that use IMPC mice or data for Hoxa4.

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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
Hoxa4em1(IMPC)Mbp Whole-gene deletion Mice
Hoxa4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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