Gene Summary

Name:
chondroitin sulfate synthase 3
Synonyms:
4833446K15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
thick skin Chsy3em2(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Chsy3em2(IMPC)Mbp HOM Early adult 0.00
female infertility Chsy3em2(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Chsy3em2(IMPC)Mbp HOM Early adult 1.58×10-10
decreased body length Chsy3em2(IMPC)Mbp HOM Early adult 9.35×10-18
increased bone mineral density Chsy3em2(IMPC)Mbp HOM Early adult 3.20×10-07
male infertility Chsy3em2(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
increased mean platelet volume Chsy3em2(IMPC)Mbp HOM   Early adult 5.23×10-05
decreased total body fat amount Chsy3em2(IMPC)Mbp HOM Early adult 6.54×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Chsy3 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 Chsy3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Tibial Hemimelia
Absent tibia OMIM:275220
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... OMIM:609324
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... OMIM:607078
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Nephritis, Giant platel... ORPHA:182050
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Ir... OMIM:609325
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage... OMIM:153640
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes equinovarus, Epiphyseal d... OMIM:226900
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:155100
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal... ORPHA:166119
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bernard-Soulier Syndrome
Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... ORPHA:174
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly OMIM:601357
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Atypical scarr... ORPHA:2485
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Brachydactyly, Short ... ORPHA:93333
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Avascular necrosis of the capital femoral epiphysis, Epiphy... OMIM:132400
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Hypoplasia of the radius, Preaxial ... OMIM:147750
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Abnormal ossification inv... ORPHA:750
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:153670
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi... OMIM:601668
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly,... ORPHA:2204
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
H Syndrome
Psoriasiform dermatitis, Amenorrhea, Azoospermia, Lipodystrophy, Hernia, Osteolysis, Hypogonadism... ORPHA:168569
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Webbed neck, Unilateral renal agenes... OMIM:616737
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Bernard-Soulier Syndrome
Macroscopic hematuria, Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-... ORPHA:274
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Weismann-Netter Syndrome
Lateral femoral bowing, Fibular bowing, Anterior tibial bowing, Squared iliac bones OMIM:112350
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Giant platelets, Chronic hemo... OMIM:210250
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Diaphanospondylodysostosis
Cystic renal dysplasia, Absent in utero ossification of vertebral bodies, Absent in utero rib oss... OMIM:608022
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Majeed Syndrome
Leukocytosis, Hepatomegaly, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive... ORPHA:77297
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Dysplasia of the... ORPHA:94068
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Inguinal hernia OMIM:261550
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Atelosteogenesis Type I
Micrognathia, Talipes equinovarus, Limb undergrowth, Rhizomelia, Abnormality of fibula morphology... ORPHA:1190
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Craniosynostosis, Abnormal dental enamel morpho... ORPHA:251004
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Macrothrombocytopenia, Anemia OMIM:616176
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Decreased fibular diameter, Limb undergrowth, Short ribs, Flared me... OMIM:616897
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosi... OMIM:259700
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cy... ORPHA:730
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... ORPHA:1306
Ring Chromosome Y Syndrome
Hypospadias, Streak ovary, Azoospermia, Urogenital sinus anomaly, Female infertility, Abnormal sp... ORPHA:261529
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Axial Osteomalacia
Osteomalacia, Renal cyst, Increased bone mineral density OMIM:109130
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Kaposiform Lymphangiomatosis
Fractures of the long bones, Anemia, Metrorrhagia, Abnormal spleen morphology, Splenomegaly, Oste... ORPHA:464329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density, Decreased body weight, Umbilic... OMIM:614856
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Hepatomegaly, Small for gestati... ORPHA:84064
Lathosterolosis
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocyt... OMIM:607330
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Webbed neck, Flexion contracture, Un... ORPHA:487796
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Knee flexion contracture, Polyc... OMIM:608836
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Osteoarthritis, Hematuria, Anemia, Splenomegaly, Pathologic fracture, O... ORPHA:77259
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Small for gestational ... OMIM:222470
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... OMIM:259710
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Decreased glomerular filtration ra... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Menorrhagia, Nephrocalcinosis, Abnormal myeloid leukocyte morp... ORPHA:79259
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Weight loss, Lipodystrophy, Erectile dysfun... ORPHA:2905
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Osteoporo... OMIM:232200
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Lymphoid Interstitial Pneumonia
Hepatomegaly, Abnormality of connective tissue, Failure to thrive, Weight loss, Rheumatoid arthri... ORPHA:79128
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Werner Syndrome
Secondary amenorrhea, Chondrocalcinosis, Osteoporosis, Spontaneous abortion, Lipodystrophy, Slend... ORPHA:902
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Hernia, Hepatosplenomegaly, Urinary gl... ORPHA:505248
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... ORPHA:53
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Nephrocalcinosis, Failure to thri... OMIM:276700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Webbed neck, Proteinuria, Thrombocytopenia, Amin... OMIM:603585
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Omphalocele, Craniosynostosis, Polysplenia, Enlarged kidney OMIM:200995
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Shoulder flexion contracture, Large hands, Bowed humerus, Long foot, Limb undergrow... OMIM:210710
Classic Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Osteoporosis, Reduced bone mineral density, M... ORPHA:79239
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Aromatase Deficiency
Osteoporosis, Delayed epiphyseal ossification, Eunuchoid habitus, Osteopenia, Female infertility,... ORPHA:91
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Atelosteogenesis, Type Iii
Micrognathia, Tibial bowing, Knee dislocation, Radial bowing, Talipes equinovarus, Rhizomelia, Hi... OMIM:108721
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Failure to thrive, Knee osteoarthritis, Abnormal epiphyseal ossification, Loc... ORPHA:93284
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Asplenia, Polysplenia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasi... OMIM:208540
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedulla... OMIM:612840
Spondyloepiphyseal Dysplasia, Nishimura Type
Oligosacchariduria, Abnormal bone ossification, Increased bone mineral density, Delayed patellar ... ORPHA:163649
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinuria, Osteoporosis, Increased bone mineral density, Recurrent fractures, ... OMIM:239000
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility, Long penis ORPHA:3000
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Low urinary cyclic AMP response... ORPHA:94089
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Omphalocele, Abnormal renal artery morphology, Lipodystrophy, Hypop... ORPHA:79328
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal c... OMIM:259720
12Q14 Microdeletion Syndrome
Horseshoe kidney, Abnormality of the spleen, Renal hypoplasia, Failure to thrive, Osteopoikilosis... ORPHA:94063
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Czech Dysplasia
Flat capital femoral epiphysis, Short metatarsal, Narrow iliac wing, Coxa vara, Short metacarpal,... OMIM:609162
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Nephroblastoma, Multiple lipomas, Enlarged kidney ORPHA:276280
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Slender build, Anemia, Diaphyseal sclerosis, Reduced ... OMIM:131300
Pelvis-Shoulder Dysplasia
Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding c... ORPHA:2839
Dysosteosclerosis
Abnormal dental enamel morphology, Coarse metaphyseal trabecularization, Craniofacial hyperostosi... ORPHA:1782
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Erdheim-Chester Disease
Hydronephrosis, Hypogonadotropic hypogonadism, Dysuria, Anemia, Weight loss, Osteomyelitis, Incre... ORPHA:35687
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Craniosynostosis, Pseudo-fractures, Abnormal t... ORPHA:289176
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Large for gestational age, Multicystic kidn... ORPHA:500095
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency OMIM:619518
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Neutropenia, Small for gestational age, Leukemia, Ectopic kidne... OMIM:227650
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Thin skin, Pat... OMIM:112250
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Omphalocele, Polycythemia, Congenital megaureter, Congenital ... ORPHA:116
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density ORPHA:36913
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Talipes equinovarus, Talipes, Broad distal phalanx of finger, Pes planus, Clinodact... OMIM:300990
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Increased susceptibility to fractures, Anemia, Splenomegaly, Increased b... ORPHA:77261
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Hydronephrosis, Tarsal synostosis, Omphalocele, Failure to thr... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Abnormal penis morphology, Elbow ankylosis, Osteopetrosis, Abnormal dental enamel mo... ORPHA:2658
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Omphalocele, Pancreatic hyperplasia, Nephrocalcinosis, Cardio... OMIM:130650
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Desmosterolosis
Renal agenesis, Failure to thrive, Osteopetrosis, Splenomegaly, Renal hypoplasia/aplasia, Increas... ORPHA:35107
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Autosomal Recessive Polycystic Kidney Disease
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Hypersplenism, ... ORPHA:731
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Pathologic fracture,... OMIM:259900
Pseudohypoparathyroidism Type 1A
Oligomenorrhea, Abnormal platelet function, Ectopic ossification, Reduced bone mineral density, H... ORPHA:79443
Gaucher Disease
Hepatomegaly, Osteoarthritis, Hematuria, Anemia, Abnormal bone structure, Arthrogryposis multiple... ORPHA:355
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Generalized osteoscl... ORPHA:416
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Atypical Werner Syndrome
Secondary amenorrhea, Chondrocalcinosis, Failure to thrive, Osteoporosis, Generalized lipodystrop... ORPHA:79474
Trichothiodystrophy
Neutropenia, Absence of subcutaneous fat, Craniosynostosis, Anemia, Osteopenia, Enamel hypoplasia... ORPHA:33364
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Schwartz-Jampel Syndrome
Cachexia, Abnormality of the ureter, Shoulder flexion contracture, Flexion contracture of toe, Hi... ORPHA:800
Leprechaunism
Hepatomegaly, Long penis, Nephrocalcinosis, Failure to thrive, Enlarged ovaries, Reduced subcutan... ORPHA:508
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Pseudohypoparathyroidism Type 1C
Oligomenorrhea, Ectopic ossification, Low urinary cyclic AMP response to PTH administration, Enam... ORPHA:79444
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Raine Syndrome
Hydronephrosis, Arthrogryposis multiplex congenita, Enamel hypoplasia, Increased bone mineral den... OMIM:259775
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility, Abnormal renal morphology ORPHA:48
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Short humerus ORPHA:17
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Meacham Syndrome
Horseshoe kidney, Aplasia of the left hemidiaphragm, Enlarged kidney, Accessory spleen, Aplasia o... OMIM:608978
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... ORPHA:1798
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Large hands, Long foot, Long fingers, Long toe, Short humerus, Short femur, Hypopla... OMIM:264090
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hydronephrosis, Leukopenia, Distal renal tubular acidosis, Failure to thrive, Renal... ORPHA:2785
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Williams Syndrome
Abnormal dental enamel morphology, Synostosis of joints, Increased bone mineral density, Hypercal... ORPHA:904
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Two carpal ossification centers present at birth, Umbi... OMIM:312870
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density, Small for gestational age OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Micropenis OMIM:241410
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Male infertility ORPHA:2239
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Secondary amenorrhea, Failure to thrive in infancy, Webbed neck, Obesity, High ... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Secondary amenorrhea, Failure to thrive in infancy, Webbed neck, Obesity, High ... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Secondary amenorrhea, Failure to thrive in infancy, Webbed neck, Obesity, High ... ORPHA:99228
Monosomy X
Horseshoe kidney, Secondary amenorrhea, Failure to thrive in infancy, Webbed neck, Obesity, High ... ORPHA:99226
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypoplasia of penis, Abnormal dental enamel morphology ORPHA:2323
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Long fingers, Thin long bone diaphyses, Hip dysplasia, Long toe, Camptodactyl... ORPHA:3455
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hepatomegaly, Generalized aminoaciduria, Failure to thrive in infancy, Ri... OMIM:219800
47,Xyy Syndrome
Hypospadias, Oligospermia, Azoospermia, Micropenis, Male infertility ORPHA:8
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Long fingers, Pes valgus, Pes planus, Congenital hip dislocation, Sh... ORPHA:508488
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... OMIM:602398
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Talipes equinovarus, Hypoplastic acetabulae, Short fifth metatarsal... OMIM:134780
Androgen Insensitivity Syndrome
Male infertility, Inguinal hernia ORPHA:754
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Nephrotic syndrome, Streak ovary, Azoospermia, Osteoporosis, Urogenital sinus anomal... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Azoospermia, Urogenital sinus anomaly, Micropenis, Male inf... ORPHA:90797
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology OMIM:612301
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Failure to thrive, Decreased fertility, Micropenis, Male hypogonadism, Male infertil... ORPHA:90793
Cleidocranial Dysplasia
Increased susceptibility to fractures, Enamel hypoplasia, Delayed pubic bone ossification, Increa... OMIM:119600
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hydronephrosis, Splenopancreatic fusion, Failure to thrive, Thickened cortex of long... OMIM:269150
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small fo... ORPHA:125
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... ORPHA:572333
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial... OMIM:218330
Familial Osteodysplasia, Anderson Type
Bifid femur, Missing ribs, Aplastic clavicle, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Horseshoe kidney, Streak ovary, Azoospermia, Chordee, Webbed neck, Penoscrotal hypos... ORPHA:1772
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Reduced bone mineral density, Splenomegaly... ORPHA:667
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Bifid femur, Large hands, Aplastic clavicle, Abnormality of the metaphysis, Broad d... ORPHA:2636
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... OMIM:300373
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Kinsship Syndrome
Micrognathia, Polydactyly, Fibular hypoplasia, Pes planus, Dislocated radial head, Hip dislocatio... OMIM:619297
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Absent radius, Down-sloping shoulders,... OMIM:214800
Noonan Syndrome 1
Hypospadias, Failure to thrive in infancy, Synovitis, Webbed neck, Amegakaryocytic thrombocytopen... OMIM:163950
Cystic Fibrosis
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Male infertility, Hypercalciuria OMIM:219700

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 Chsy3

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 Chsy3.

No publications found that use IMPC mice or data for Chsy3.

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MGI Allele Allele Type Produced
Chsy3em2(IMPC)Mbp Exon Deletion Mice, Tissue

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