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Gene: Sulf1 MGI:2138563

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Gene Summary

Name:
sulfatase 1
Synonyms:
N/A

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.

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Viewing: all phenotypes

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 Sulf1 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 Sulf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic ... OMIM:609223
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros... OMIM:609052
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis... OMIM:271530
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Short thorax ORPHA:93283
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Bilateral coxa valga ORPHA:163665
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Beak... OMIM:616583
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis... OMIM:271630
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Dysosteosclerosis
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Absent paranasal sinuses, Flare... OMIM:224300
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Schmorl's node, Beaking of vertebral bodies, Heberden's node, Irregular vertebral ... OMIM:604864
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis OMIM:258850
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification... OMIM:617974
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Platyspondyly, Hump-shaped mound of bone in central and posterior portion... ORPHA:99642
Brachyolmia Type 2
Platyspondyly OMIM:613678
Greenberg Dysplasia
Platyspondyly, Narrow chest, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis b... ORPHA:1426
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp... OMIM:612847
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Pseudodiastrophic Dysplasia
Platyspondyly, Phalangeal dislocation, Rhizomelia, Scoliosis ORPHA:85174
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca... OMIM:184100
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... OMIM:156510
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... OMIM:184252
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... OMIM:607326
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads OMIM:271600
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... OMIM:602111
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit... OMIM:113500
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic... ORPHA:2752
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Morquio Syndrome C
Platyspondyly OMIM:252300
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal joint space, Biconc... ORPHA:166011
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro... ORPHA:93351
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Genu valgum, Abnormal thorax morphology, Metaphyseal wid... OMIM:265900
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Genu valgum, Metaphyseal enchondromatosis, Vertebral segmentation d... ORPHA:85198
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Scarf Syndrome
Short sternum, Short neck, Pectus carinatum, Abnormal form of the vertebral bodies ORPHA:3134
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscoliosis... ORPHA:1159
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Short femoral neck, Narrow vertebral interpedicular distance, Carpal bo... OMIM:618395
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Short finger, Hyperextensibility of the finger joints, Hip contr... OMIM:313420
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... OMIM:184095
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Smith-Mccort Dysplasia 2
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Broad femoral neck, Genu val... OMIM:615222
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Barrel-shaped chest, Short sternum, Shor... OMIM:312830
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... ORPHA:85166
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di... OMIM:300863
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Enlarged epiphyses OMIM:184840
Tarp Syndrome
Clinodactyly, Micrognathia, Postaxial polydactyly, Short sternum, Cutaneous syndactyly, Hypoplasi... OMIM:311900
Momo Syndrome
Short sternum, Short neck OMIM:157980
Momo Syndrome
Short sternum, Short neck, Femoral bowing, Congenital pseudoarthrosis of the clavicle ORPHA:2563
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral defor... OMIM:264180
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... ORPHA:93316
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Camptodactyly of finger, Sclerotic vertebral endplates, Enlarged interphalangeal j... OMIM:208230
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bullet-shaped middle phalanges of t... OMIM:602535
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Dysplasia of the femora... ORPHA:93284
Osteogenesis Imperfecta, Type Vi
Bowing of the arm, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebral ... OMIM:613982
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Odontochondrodysplasia
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Bowing of the... ORPHA:166272
Czech Dysplasia
Platyspondyly, Short toe, Intervertebral space narrowing, Flat capital femoral epiphysis, Irregul... OMIM:609162
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Coxa vara, Pectus exca... OMIM:619131
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Scoliosis OMIM:615220
Osteogenesis Imperfecta, Type V
Platyspondyly, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior radial head di... OMIM:610967
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Short sternum, Clinodactyly of the 5th finger, Proximal placement of... OMIM:620113
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Rhizomelia, Microretrognathia, Bowing of the long bones, Multiple ri... OMIM:616229
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Ir... ORPHA:250984
Geroderma Osteodysplastica
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal form of the vertebral bo... ORPHA:2078
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Short toe, Brachytelomesophalangy, Abnormal femoral head morphology, Protrusio ace... ORPHA:2619
Bruck Syndrome 1
Platyspondyly, Pectus carinatum, Vertebral wedging, Hip contracture, Coxa vara, Scoliosis, Kyphos... OMIM:259450
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Postaxial polydacty... ORPHA:2886
Mucopolysaccharidosis, Type Iva
Platyspondyly, Constricted iliac wing, Pectus carinatum, Hypoplasia of the odontoid process, Genu... OMIM:253000
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Broad femoral neck, Abnormal metaphysis morphology, Flat capital femoral epiphysis... ORPHA:157965
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Platyspondyly, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu va... OMIM:614134
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... OMIM:619638
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Bowing of the long bones, Ve... OMIM:617952
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Hypoplastic radial head, Micrognathia, Supernumerary ribs, Short ster... OMIM:122470
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Short neck, Flattened epiphysis, Adva... OMIM:251450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Genu valgum, Abnormal metatarsal morpholog... ORPHA:93360
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Osteogenesis Imperfecta, Type Xxiii
Shallow acetabular fossae, Genu valgum, Broad femoral head, Severe platyspondyly, Hip dislocation... OMIM:620639
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Thoracic hypoplasia, Micro... OMIM:617866
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Broad ischia, Anterior... OMIM:228520
Ulbright-Hodes Syndrome
Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos... ORPHA:3404
Donnai-Barrow Syndrome
Short sternum OMIM:222448
Anauxetic Dysplasia 1
Platyspondyly, Hypoplastic ilia, Atlantoaxial dislocation, Rhizomelia, Short toe, Flared metaphys... OMIM:607095
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Anterior beaking of lumbar vertebrae, S... OMIM:230650
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Short middle ph... OMIM:618853
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... OMIM:300232
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Micromelia, Broad ribs, ... OMIM:613848
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... OMIM:169550
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Platyspondyly, Shortening of all middle phalanges of the fingers, Hypoplasi... OMIM:226980
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Osteogenesis Imperfecta, Type Xi
Vertebral wedging, Biconcave vertebral bodies, Kyphoscoliosis, Coxa vara, Vertebral compression f... OMIM:610968
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... ORPHA:163966
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Cone-shaped epiphysis ORPHA:71267
Hall-Riggs Syndrome
Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Scoliosis, Kyphosis, Irregular vertebral end... OMIM:234250
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Spinal rigidity, Platyspondyly, Kyphosis, ... ORPHA:94068
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Short neck, Micrognathia OMIM:257300
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... OMIM:156550
Turnpenny-Fry Syndrome
Pectus carinatum, Small hand, Narrow chest, Clinodactyly, Overlapping toe, Lumbar hyperlordosis, ... OMIM:618371
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... OMIM:611717
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca... OMIM:601356
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Spinal canal stenos... ORPHA:582
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Slender finger, Anisospondyly, Narrow chest, Hemiatrophy of upper limb, Micrognath... ORPHA:163649
Schwartz-Jampel Syndrome, Type 1
Micrognathia, Hip contracture, Bowing of the long bones, Short neck, Abnormal femoral epiphysis m... OMIM:255800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Short distal phalanx of ... OMIM:620662
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial insta... OMIM:183900
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab... OMIM:615777
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Platyspondyly, Fractures of the long bones, Wide humerus, Micrognathia, Met... ORPHA:319195
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Atelosteogenesis Type I
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Absent or minimally ossified verteb... ORPHA:1190
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lateral clavicle hook, Dumb... OMIM:211350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowi... OMIM:610915
Cantu Syndrome
Platyspondyly, Narrow chest, Erlenmeyer flask deformity of the femurs, Broad hallux, Ovoid verteb... OMIM:239850
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Kyphoscoliosis, Fl... OMIM:612350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Mycetoma
Abnormal form of the vertebral bodies, Abnormal forearm bone morphology, Abnormal thorax morpholo... ORPHA:2583
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of the capi... OMIM:253010
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Slender metacarpals, Micrognathia, Ovo... OMIM:620601
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Narrow chest, Short thorax, Micromelia, Abnormal sacroi... ORPHA:2655
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Platyspondyly, Hypoplasia of the odontoid p... ORPHA:485
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Enlarged thorax, Short 5th meta... ORPHA:99413
Turner Syndrome
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Enlarged thorax, Short 5th meta... ORPHA:881
Mosaic Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Enlarged thorax, Short 5th meta... ORPHA:99228
Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Enlarged thorax, Short 5th meta... ORPHA:99226
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Abnormal epiphysis morphology ORPHA:90653
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax, Short neck, Aplasia/Hypoplasia ... OMIM:108720
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of the hand, Short n... OMIM:618958
Bruck Syndrome
Bowing of the long bones, Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep... OMIM:617425
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal cupping, Scoliosis, Rhizomelia, Flared metaphysis, Short finger, Femor... OMIM:608940
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, Short foot, Pectus ca... OMIM:312870
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Cervical spinal canal stenosis, Vertebral compression fracture, Hip contracture OMIM:620232
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... OMIM:602080
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lumbar kyphosis in infancy, Fe... OMIM:100800
Opsismodysplasia
Metaphyseal cupping, Hypoplasia of the odontoid process, Narrow chest, Rhizomelia, Posterior rib ... OMIM:258480
Geroderma Osteodysplasticum
Platyspondyly, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Kyphoscoliosis, Beaking... OMIM:231070
Lowry-Wood Syndrome
Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Irregular epiphyses, Brachyda... ORPHA:1824
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
Coffin-Siris Syndrome 1
Sandal gap, Prominent fingertip pads, Sacral dimple, Short distal phalanx of the 5th toe, Aplasia... OMIM:135900
Stickler Syndrome, Type I
Platyspondyly, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Micrognathia, ... OMIM:108300
Bruck Syndrome 2
Platyspondyly, Pectus carinatum, Femoral bowing OMIM:609220
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Femoral bowing, Scoliosis OMIM:126550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Micrognathia, ... OMIM:616897
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s... ORPHA:93317
Ollier Disease
Platyspondyly, Abnormal metaphysis morphology, Micromelia ORPHA:296
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus, Vertebral compression fra... OMIM:616507
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bon... ORPHA:1860
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
ERI1-related disease
Platyspondyly, Pectus carinatum, Narrow chest, Slender metacarpals, Oligodactyly, Clinodactyly of... OMIM:608739
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Ovoid... ORPHA:1517
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Hypoplastic il... OMIM:271640
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Mesomelia, Rhizomelia, Small epiphyses, Genu valgum, Lumbar hyperlordosis, Biconca... OMIM:271510
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing,... OMIM:616723
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Pectus carinatum, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symph... OMIM:614856
Thanatophoric Dysplasia Type 2
Platyspondyly, Narrow chest, Micromelia, Brachydactyly, Short thorax, Abnormal metaphysis morphol... ORPHA:93274
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Sho... OMIM:241500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Carpal synostosis, Dysp... OMIM:615349
Dysosteosclerosis
Platyspondyly, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Abnormal metap... ORPHA:1782
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Aplastic clavicle, Metaphyseal cupping, Broad clavicles, Abnormal epiphysis morpho... ORPHA:50945
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Ante... OMIM:253220
Cole-Carpenter Syndrome 2
Thin ribs, Platyspondyly, Microretrognathia, Narrow iliac wing, Pectus excavatum, Kyphosis OMIM:616294
Infantile Liver Failure Syndrome 3
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... OMIM:618641
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Limb undergrowth, B... ORPHA:2107
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Osteogenesis Imperfecta, Type Vii
Narrow chest, Rhizomelia, Micromelia, Crumpled long bones, Multiple rib fractures, Femoral retrov... OMIM:610682
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Tibial bowing, Kyphoscoliosis, Barrel-shaped chest, Se... OMIM:259770
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, A... ORPHA:79255
Cole-Carpenter Syndrome 1
Vertebral compression fracture, Micrognathia, Scoliosis OMIM:112240
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Pectus carinatum, Long hallux, Kyphoscoliosis, Short neck, Long fingers, Pectus excavatum, Verteb... OMIM:309583
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies,... OMIM:230600
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia, Patellar aplasia, ... OMIM:224690
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Radioulnar synostosis, Short neck, Broad distal p... OMIM:245600
Spondylo-Ocular Syndrome
Platyspondyly, Short neck, Abnormal intervertebral disk morphology, Thoracic kyphosis ORPHA:85194
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Erlenmeyer flask deformity of the femu... OMIM:618476
Spondyloocular Syndrome
Platyspondyly, Pectus carinatum, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Shiel... OMIM:605822
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar... ORPHA:536467
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Osteogenesis Imperfecta, Type Xx
Asymmetry of the thorax, Narrow chest, Vertebral compression fracture, Kyphoscoliosis OMIM:618644
Marshall Syndrome
Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ... OMIM:154780
Osteoglophonic Dysplasia
Platyspondyly, Hypoplastic scapulae, Broad thumb, Rhizomelia, Short thumb, Camptodactyly of finge... OMIM:166250
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Bow... ORPHA:666
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Short iliac bones, Metaphyseal sclerosis, Lumbar hyperlordosis, Increased interver... OMIM:607944
Hajdu-Cheney Syndrome
Foot acroosteolysis, Tall lumbar vertebral bodies, Genu valgum, Fibular bowing, Vertebral compres... OMIM:102500
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short palm, Short foot, ... ORPHA:93357
Gaucher Disease, Type I
Vertebral compression fracture, Erlenmeyer flask deformity of the femurs OMIM:230800
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Short hu... OMIM:304150
Schwartz-Jampel Syndrome
Genu valgum, Micrognathia, Hip contracture, Bowing of the long bones, Short neck, Sprengel anomal... ORPHA:800
Occipital Horn Syndrome
Humerus varus, Genu valgum, Abnormal fibula morphology, Short palm, Hip dislocation, Pectus carin... ORPHA:198
Trisomy 20P
Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger,... ORPHA:261318
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpa... OMIM:610442
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Narrow chest, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Kyp... OMIM:616482
Gm1 Gangliosidosis
Platyspondyly, Abnormal epiphysis morphology, Coarse metaphyseal trabecularization, Abnormal diap... ORPHA:354
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Slender long bone, Patellar hypoplasia, Short thorax, Micrognath... OMIM:613803
Schimke Immunoosseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lumbar hyp... OMIM:242900
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae, Scoliosi... OMIM:166220
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies OMIM:219090
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Abnormal femo... ORPHA:1830
Spondyloenchondrodysplasia
Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Limb undergrow... ORPHA:1855
Geleophysic Dysplasia 1
Platyspondyly, Cone-shaped epiphysis, Short metacarpals with rounded proximal ends, Camptodactyly... OMIM:231050
Bcard Syndrome
Platyspondyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of... OMIM:612394
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas... OMIM:619727
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Scoliosis, Con... OMIM:619269
Craniorachischisis
Bifid sternum ORPHA:63260
Myhre Syndrome
Platyspondyly, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Brachydactyly, Abno... ORPHA:2588
Myhre Syndrome
Platyspondyly, Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of ... OMIM:139210
Spinal Cord Injury
Vertebral compression fracture ORPHA:90058
Gaucher Disease Type 1
Vertebral compression fracture, Erlenmeyer flask deformity of the femurs ORPHA:77259
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Horizontal inferior b... OMIM:102700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Aplasia of the distal phalanges of the... ORPHA:3472
Shwachman-Diamond Syndrome
Proximal femoral epiphysiolysis, Deformed rib cage, Metaphyseal chondrodysplasia, Metaphyseal wid... ORPHA:811
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Pectus carinatum, Genu valgum, Short neck, Bilateral coxa valga, Cortical thickeni... ORPHA:309282
Fraser Syndrome 1
Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Wide pubic symphysis, Aplasia/Hyp... OMIM:219000
Stickler Syndrome
Platyspondyly, Pectus carinatum, Microretrognathia, Abnormal epiphysis morphology, Proximal femor... ORPHA:828
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Congenital hip dislocation, Progressive congenital scoliosis, Platyspondyly, Kyphoscol... OMIM:225400
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Kyphosis, Tapered finger, Lumbar kyphosis, Drumstick terminal ph... OMIM:303600
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Anterior concavity of thoracic ... OMIM:216340
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum ORPHA:1686
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Metaphyseal cupping, Irregular iliac crest, Broad carpal bones, Metaphyseal chondr... ORPHA:99646
Multiple Myeloma
Vertebral compression fracture ORPHA:29073
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Abnormal epiphysis morphology, Kyphosis, Genu valgum, Micrognathia, Abnormal rib m... ORPHA:534
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Scoliosis, Kyphosis... OMIM:208400
Porphyria, Congenital Erythropoietic
Vertebral compression fracture OMIM:263700
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Finger swelling, Kyphosis, Camptodactyly of finger, Genu valgum, Scoliosis, Hip di... OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ... ORPHA:2273
Fontaine Progeroid Syndrome
Platyspondyly, Short distal phalanx of finger, Micrognathia, Absent distal phalanges, Scoliosis, ... OMIM:612289
Cushing Disease
Vertebral compression fracture ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Vertebral compression fracture ORPHA:99889
Pmm2-Cdg
Platyspondyly, Long fingers, Kyphoscoliosis ORPHA:79318

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 Sulf1

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 Sulf1.

No publications found that use IMPC mice or data for Sulf1.

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MGI Allele Allele Type Produced
Sulf1tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice
Sulf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sulf1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sulf1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sulf1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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