Gene Summary

sulfatase 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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.

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
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 Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... OMIM:613982
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology ORPHA:163665
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Clavicular sclerosis, Micrognathia, Absent frontal sinuses, Sclerotic scapulae, Increased interve... OMIM:224300
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... OMIM:604864
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... OMIM:620076
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology, Protrusio acet... ORPHA:99642
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Brachyolmia Type 2
Platyspondyly OMIM:613678
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... OMIM:271650
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Phalangeal dislocation, Scoliosis ORPHA:85174
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... OMIM:256050
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... OMIM:184252
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads OMIM:271600
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... ORPHA:93352
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... ORPHA:166011
Morquio Syndrome C
Platyspondyly OMIM:252300
Pyle Disease
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu... OMIM:265900
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Abnormal r... ORPHA:93351
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon... ORPHA:85198
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... ORPHA:2752
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Scarf Syndrome
Short sternum, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum ORPHA:3134
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short... OMIM:615222
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... OMIM:312830
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... OMIM:184260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Kyphosis, Coxa vara, Pectus carinatum, Vertebral wedging, P... OMIM:259450
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... OMIM:311900
Momo Syndrome
Short sternum, Short neck OMIM:157980
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Short sternum, Short neck, Femoral bowing ORPHA:2563
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Platyspondyly OMIM:184840
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... OMIM:208230
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of... OMIM:264180
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K... ORPHA:93316
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... OMIM:616229
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... OMIM:619131
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Platyspondyly, Square pe... ORPHA:166272
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon... ORPHA:93346
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Short sternum, Clinodactyly of the 5th finger, Clinodactyly of the 4... OMIM:620113
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... OMIM:610967
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Ab... ORPHA:250984
Geroderma Osteodysplastica
Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:2078
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hyp... ORPHA:2886
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad thumb, ... OMIM:619638
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... OMIM:612813
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... OMIM:617866
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Hypo... OMIM:122470
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od... OMIM:253000
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... ORPHA:2619
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Abnormal rib ... ORPHA:3404
Anauxetic Dysplasia 1
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i... OMIM:607095
Donnai-Barrow Syndrome
Short sternum OMIM:222448
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Ve... OMIM:617952
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... OMIM:619698
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec... OMIM:618853
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... OMIM:300232
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Biconcave vertebral... OMIM:610968
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Rhizomelia, Mi... OMIM:613848
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Mesomelia, ... OMIM:601356
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Short neck, Micrognathia OMIM:257300
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Back pain, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis,... ORPHA:94068
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi... OMIM:156550
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... OMIM:618019
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... OMIM:611717
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Pectus excavatum,... OMIM:618371
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... OMIM:613320
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... ORPHA:1427
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Coxa valga, Micrognathia, Short neck, Flattened epiphysis, Flat acetabula... ORPHA:163649
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ... OMIM:215150
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... OMIM:255800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... OMIM:615777
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal dysplasia, Micrognathia, Fractures of the long bones, Platyspon... ORPHA:319195
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... OMIM:183900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... OMIM:612350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... OMIM:239850
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Back pain, Abnormal thorax morphology, Abnormal forearm bone morphology, Abnormal form of the ver... ORPHA:2583
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hip dysplasia, Platyspo... ORPHA:2655
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... OMIM:231070
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Abnormal epiphysis morphology ORPHA:90653
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od... OMIM:253010
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... OMIM:618958
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... ORPHA:99413
Turner Syndrome
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... ORPHA:881
Mosaic Monosomy X
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Micrognathia, Pectus excavatum, Kyphosis, Short toe, Enlargement of ... ORPHA:99226
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, Sh... OMIM:108720
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus excavatum, Platys... OMIM:617425
Bruck Syndrome
Kyphosis, Bowing of the long bones, Scoliosis, Platyspondyly ORPHA:2771
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... OMIM:271665
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Vertebral compression fracture, Cervical spinal canal stenosis OMIM:620232
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Short ... OMIM:312870
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... OMIM:258480
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Thoracic hypoplasia, Bowing of the legs, L... OMIM:100800
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Broad metacarpal... OMIM:259600
Lowry-Wood Syndrome
Epiphyseal dysplasia, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal epiphysis morpholog... ORPHA:1824
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, M... OMIM:616897
Coffin-Siris Syndrome 1
Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... OMIM:135900
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Stickler Syndrome, Type I
Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Platyspond... OMIM:108300
Bruck Syndrome 2
Pectus carinatum, Platyspondyly, Femoral bowing OMIM:609220
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... OMIM:616507
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Ollier Disease
Abnormal metaphysis morphology, Platyspondyly, Micromelia ORPHA:296
CantĂș Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Short neck, ... OMIM:616723
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Short thorax, Platyspondyly, Narrow chest, Abnormal metaphysis morphology, ... ORPHA:93274
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Short ribs, Unossified vertebr... OMIM:241500
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Narrow vertebral interpedicular distance, Kyphos... OMIM:271510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Pectus excavatu... OMIM:615349
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m... ORPHA:1782
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Short th... ORPHA:50945
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th... OMIM:253220
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnormal metaphysis mo... ORPHA:2107
Cole-Carpenter Syndrome 2
Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... OMIM:610682
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Kyphoscoliosis, Short neck, Pectus excavatum, Long finge... OMIM:309583
Gm1-Gangliosidosis, Type Ii
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... OMIM:230600
Meier-Gorlin Syndrome 1
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cutaneo... OMIM:224690
Cole-Carpenter Syndrome 1
Vertebral compression fracture, Scoliosis, Micrognathia OMIM:112240
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Pectus carinatum,... OMIM:618476
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... ORPHA:79255
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
Spondyloocular Syndrome
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Pectus carinatum, Shield... OMIM:605822
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Short neck, Pectus carinatum, Shoulder dislocation, Narrow chest, Dislocated radial... OMIM:245600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Increased intervertebral space, Narrow greater sciatic notch, Abnormality of the ce... ORPHA:508533
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus carinatum, Ara... ORPHA:536467
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:666
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Asymmetry of the thorax, Narrow chest, Kyphoscoliosis OMIM:618644
Osteoglophonic Dysplasia
Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of finger, Rhizom... OMIM:166250
Hajdu-Cheney Syndrome
Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Short neck, Tall lumbar vertebral bodies, O... OMIM:102500
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... OMIM:607944
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus... OMIM:304150
Gaucher Disease, Type I
Vertebral compression fracture, Erlenmeyer flask deformity of the femurs OMIM:230800
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae,... ORPHA:800
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Occipital Horn Syndrome
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Aplastic ... ORPHA:198
Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal verteb... ORPHA:536471
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Preaxial hand polydactyly, ... ORPHA:261318
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... OMIM:610442
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo... OMIM:304120
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Narrow ... OMIM:616482
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... OMIM:613803
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Later... OMIM:242900
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Osteogenesis Imperfecta, Type Iv
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... OMIM:166220
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatum, Platyspo... ORPHA:1855
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma... ORPHA:1830
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Platyspondyly, Scoliosis, Hy... OMIM:612394
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Bifid sternum ORPHA:63260
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... ORPHA:2588
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Cone-shaped epiphys... OMIM:139210
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... OMIM:619269
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femo... OMIM:210710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Horizontal inferior border of scapula, Platyspondyly, Abnormal pelvic girdl... OMIM:102700
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Shwachman-Diamond Syndrome
Metaphyseal chondrodysplasia, Metaphyseal widening, Abnormal finger morphology, Deformed rib cage... ORPHA:811
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Short neck, Pectus excavatum, Genu valgum, Pectus carinatum, Cortical thickening ... ORPHA:309282
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha... OMIM:219000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin ribs, Platy... OMIM:225400
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Hip dislocation, Spinal canal stenos... ORPHA:828
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Short neck, Me... ORPHA:99646
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum ORPHA:1686
Multiple Myeloma
Vertebral compression fracture ORPHA:29073
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Platyspondyly, Abn... ORPHA:534
Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... OMIM:208400
Porphyria, Congenital Erythropoietic
Vertebral compression fracture OMIM:263700
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Kyphosis, Hip dislocation, Genu valgum, Finger swelling, Platyspondyly, ... OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of... ORPHA:2273
Fontaine Progeroid Syndrome
Syndactyly, Micrognathia, Platyspondyly, Absent distal phalanges, Scoliosis, Short distal phalanx... OMIM:612289
Cushing Disease
Vertebral compression fracture ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Vertebral compression fracture ORPHA:99889
Long fingers, Platyspondyly, Kyphoscoliosis ORPHA:79318


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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